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Variant IDChromosomePositionRefAltAllele IDClinical SignificanceDisease NameFrequency GO-ESPFrequency EXACFrequency 1000 Genomes ProjectGTZygosityURL
02631591977570GA249309Benignnot_specified|not_provided0.774120.894640.794131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16779471977780CT656915Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22631601978603CCTC249310Benignnot_specified0.399410.560940.479231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36779481980460GA656961Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42631721981087AG249321Benignnot_specified|not_provided0.832080.912750.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52631751981328CG249324Likely_benignnot_specified0.000230.00018.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61282971981931AG133746Benignnot_specified0.780220.876750.797721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76779501982444AG656892Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86779511982462TC656963Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96779521982513TC656900Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102631811982941TC249331Benignnot_specified0.76657.0.799921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111283021982994TC133751Benignnot_specified0.791170.898930.835861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126792931984171CAGC656918Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131283071984302TC133756Benignnot_specified0.458630.629480.545731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
142631881985266CT249338Benignnot_specified0.402220.543650.495211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
152631911985446GT249341Benignnot_specified.0.456650.335461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
162631921985449GA249342Benignnot_specified.0.530060.525561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
176779541986443CT656926Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
181283171987200CT133766Benignnot_specified0.756920.875690.788741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
196779551988932GC656939Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
201283191990280CT133768Benignnot_specified0.579160.637640.585261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2125682411956362GA249668Benignnot_specified0.81970.804440.775561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2225682311957037TC249669Benignnot_specified|not_provided0.68430.593390.56131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2367236112234251AG657433Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2467379412234903CT657434Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2526279112337277CT249841Benign/Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.082050.152960.080870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2613534912488153AG139088not_providednot_specified0.558030.544310.614820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2713339912490609TC137138not_providednot_specified.0.006130.00140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2813340412490898CA137143not_providednot_specified.0.589910.640781|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2913340612490942CA137145not_providednot_specified..0.597841|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3013341412491205CT137153not_providednot_specified.0.659610.643971|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3113535512494330GA139094not_providednot_specified0.123330.129530.113820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3267470612985885CG657839Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3367472913312963CT657891Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3467473113313282GA657892Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3568370613319061AG657896Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3667473213319674CT657843Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3767473313319681CG657844Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3867473513321134GA657849Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3966955213321715GC657852Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4022702613328358TC228438BenignLeft_ventricular_noncompaction_8|not_specified0.87774.0.945090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4122702713328659CT228440Benignnot_specified0.152310.131030.106030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4238119413329384CT365234Benignnot_specified0.138280.215510.107030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4367860013330884GA657927Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4467471413342530GA657890Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4568370713348268GC657895Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4626055915925371GA249994Benignnot_specified0.33790.445790.317890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
479568315926507TC101580BenignNephronophthisis|Renal_dysplasia_and_retinal_a...0.349020.460430.319690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4826055415934490AG249999Benignnot_specified0.672920.656570.569291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4926055315934500TC250000Benignnot_specified0.174980.314270.271170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5016737515935162AT177885BenignNephronophthisis_4|not_specified|not_provided0.843130.836250.843251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5126054715937391CT250004Benignnot_specified0.851550.810790.832670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5268280116517179GC658000Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5368280216520024CA658028Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5429790416526183GA281043BenignDistal_spinal_muscular_atrophy0.165890.169380.202280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5529790516526202CCGTGCTCTC281645BenignDistal_spinal_muscular_atrophy...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5629790616526240GCGCCG281648BenignDistal_spinal_muscular_atrophy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5729791016526319CT281658Likely_benignDistal_spinal_muscular_atrophy..0.086260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5829791216526465CG283150BenignDistal_spinal_muscular_atrophy..0.204270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5929791616526633GA283153BenignDistal_spinal_muscular_atrophy..0.201080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6029792816527333AG282866BenignDistal_spinal_muscular_atrophy..0.266970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6166794016527745CT658030Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6228556816528589CT269805Benign/Likely_benignDistal_spinal_muscular_atrophy|not_specified0.062610.053530.055710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6319497916529182TTCCT192141Benign/Likely_benignDistal_spinal_muscular_atrophy|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6419488116529443AG192043BenignDistal_spinal_muscular_atrophy|not_specified0.287180.172340.269570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6566793816530189GA657887Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6667055716530965CCG657962Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6729795916531589CT281077Likely_benignDistal_spinal_muscular_atrophy0.067750.062930.055310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6819889516533393GC196055BenignDistal_spinal_muscular_atrophy|not_specified0.27270.221240.285740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6966793716534781GA658029Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7029811318021778TC283315BenignParkinson_Disease,_Recessive..0.637381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7172117218568701GA719112Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72260540110338204CT249268Benignnot_specified0.030830.032670.014580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73129400110421878AG134846Benign/Likely_benignPheochromocytoma|Neuroblastoma|Charcot-Marie-T...0.090340.112760.080270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74291606110437778CT275918Likely_benignPheochromocytoma|Neuroblastoma|Charcot-Marie-T.....0.093650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75291608110437804GA275756Likely_benignPheochromocytoma|Neuroblastoma|Charcot-Marie-T.....0.093650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76291609110437995GGA275764Uncertain_significancePheochromocytoma|Neuroblastoma|Charcot-Marie-T......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77291618110438687CT275844BenignPheochromocytoma|Neuroblastoma|Charcot-Marie-T.....0.546530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78368794110441664TC353023BenignPheochromocytoma|Neuroblastoma|Charcot-Marie-T.....0.526960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7995145110678488AT101045BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.186530.157870.194890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80167454110689942GT177935Benign/Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.140820.157760.103630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81522225111080723TTG512791BenignAmyotrophic_lateral_sclerosis_type_10...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82291763111085004AATGTTT276114BenignFrontotemporal_dementia|MASP2_deficiency|Amyot......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83291772111086717AG275885BenignFrontotemporal_dementia|MASP2_deficiency|Amyot.....0.709670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84291781111087524GA275846BenignFrontotemporal_dementia|MASP2_deficiency|not_s...0.673150.78550.68750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
85291785111090897AG275927Likely_benignMASP2_deficiency0.055360.052850.118410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86291790111097867CT275866BenignMASP2_deficiency0.08350.061770.131390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
87516652111181327CT497964Benignnot_specified0.302090.218440.220650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88380311111190646GA364358Benignnot_specified0.305940.221520.228630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89516653111301714AG498006Benignnot_specified0.585350.716980.639580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90291872111346336AG275981Likely_benignSchnyder_crystalline_corneal_dystrophy..0.009190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91291887111347155CCTGTT276079BenignSchnyder_crystalline_corneal_dystrophy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92292153111846092GGT276302BenignNeural_tube_defects,_folate-sensitive...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93292158111846252GA276582Likely_benignNeural_tube_defects,_folate-sensitive..0.706470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94292160111846447GA276602BenignNeural_tube_defects,_folate-sensitive..0.933311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95292171111847334GGGAA276604Likely_benignNeural_tube_defects,_folate-sensitive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96292181111847759CT276668Likely_benignNeural_tube_defects,_folate-sensitive..0.558510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97292191111848139GA276111Likely_benignNeural_tube_defects,_folate-sensitive.0.236780.12681|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98292203111848879AG276650BenignNeural_tube_defects,_folate-sensitive..0.930511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99292209111849447AG276356BenignNeural_tube_defects,_folate-sensitive.0.987120.932911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100292223111850365TG276753Likely_benignNeural_tube_defects,_folate-sensitive..0.62840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101167306111854457GA177842BenignNeural_tube_defects,_folate-sensitive|not_spec...0.890510.969660.902961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023521111854476TG18560Conflicting_interpretations_of_pathogenicity,_...Schizophrenia,_susceptibility_to|Gastrointesti...0.259570.2950.24941|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1033520111856378GA18559drug_responseVenous_thrombosis|Neoplasm_of_stomach|Gastroin...0.270570.303670.245410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104683180112052405GA657052Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105439571115769139GA432974Benignnot_specified..0.182910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106439565115770101CA432977BenignHereditary_pancreatitis0.22882.0.171330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107439563115772057GT432983BenignHereditary_pancreatitis0.37075.0.357630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
108585697116351275AG576424BenignBartter_syndrome,_type_4b|not_provided0.600880.563640.642971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109585696116358932TC576425Benignnot_provided0.695220.688220.7491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110447107116371067GT440382Benignnot_specified|not_provided0.5263.0.555511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111447104116373124AG440387Benignnot_specified|not_provided0.672150.802230.740421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112447105116374533GC440388Benignnot_specified|not_provided0.878440.929840.893971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113381050116374994CT364523Benign/Likely_benignnot_specified|not_provided.0.80080.738621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
114789426116375063CAGC706794Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115447108116376191CT440389Benignnot_specified|not_provided.0.909630.829871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116377683116376319TC364524Benignnot_specified|not_provided0.815090.911350.830071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117504914116377108GC496594Benignnot_specified0.180920.231370.162540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118447094116380196TC440394Benignnot_specified0.888250.931010.838261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119447096116380243AG440395Benignnot_specified|not_provided0.700830.658570.701680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120447097116380252CT440396Benignnot_specified|not_provided0.611330.621030.613620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121293400116451413CT278005BenignAge-related_cortical_cataract..0.905751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122767658117250836AG696246Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123772652117272037GA696248Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124128475117312743CT133924BenignParkinson_disease_9|History_of_neurodevelopmen...0.421320.506530.331270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125559000117313157GA549503Benignnot_provided0.423180.495820.346850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126128473117313343GA133922BenignParkinson_disease_9|History_of_neurodevelopmen...0.416420.464790.338460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127128470117313654CT133919BenignParkinson_disease_9|History_of_neurodevelopmen...0.425560.463860.346250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128128466117314942GA133915BenignParkinson_disease_9|History_of_neurodevelopmen...0.415420.458950.338660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129128465117319011GA133914BenignParkinson_disease_9|History_of_neurodevelopmen...0.569280.553970.448480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130703790117328301TC695018Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131258889117359676CA249532Benignnot_specified0.952330.971890.959071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13244641117380497GT53808BenignPheochromocytoma|Hereditary_cancer-predisposin...0.95147.0.957071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133590790117662639TC581729associationRheumatoid_arthritis0.539750.561920.515181/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134294367119201928CT279073Likely_benignHyperprolinemia0.112030.104390.047920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135294382119203997CG278123BenignHyperprolinemia0.711540.707170.641570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136262027120964328AG249677Benignnot_specified|Parkinson_Disease,_Recessive|not...0.843380.862280.821891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137262028120972048GA249678Benignnot_specified|Parkinson_Disease,_Recessive|not...0.844230.862760.820691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138295004120972111GA278643Benign/Likely_benignParkinson_disease_6,_autosomal_recessive_early...0.037440.092110.12280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139295006120977000AC279809Benign/Likely_benignCongenital_disorder_of_glycosylation|Parkinson...0.270030.297390.300521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140295011120977221AT278644BenignCongenital_disorder_of_glycosylation|Parkinson...0.853350.863890.834471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
141295013120977365CG278645BenignCongenital_disorder_of_glycosylation|Parkinson.....0.836661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
142295014120977380TC278656Likely_benignCongenital_disorder_of_glycosylation|Parkinson.....0.300121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
143295021120977710CCAGTA278548Uncertain_significanceParkinson_Disease,_Recessive...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
144295024120977748TG279966Likely_benignCongenital_disorder_of_glycosylation|Parkinson.....0.299921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
145295030120977856TC279967Likely_benignCongenital_disorder_of_glycosylation|Parkinson.....0.302721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
146295031120977907AAAGAG278679Likely_benignCongenital_disorder_of_glycosylation|Parkinson......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
147295057120978832TC279865BenignCongenital_disorder_of_glycosylation|Parkinson...0.84402.0.824881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
148258081121571601GA249711Benignnot_specified0.207980.240520.160140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
149258080121573722GA249712Benignnot_specified0.196990.220410.146770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
150197678121889635TC194839Benignnot_specified0.921730.944980.929510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
151295558121904206CT279050BenignHypophosphatasia..0.336660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
152295561121904267AG278910BenignHypophosphatasia..0.868211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
153295563121904374AC278914BenignHypophosphatasia..0.164540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
154295571121904826AAT278920Likely_benignHypophosphatasia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
155295685122149183GC280433BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom.....0.319890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
156295695122149935TC280437BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.79233.0.780351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
157295700122150120CT280442BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.145930.184870.176120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
158295701122150160GT278997BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.12956..1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
159295707122154845AG279137BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.252350.298210.257190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
160439796122155723TC433613Benignnot_specified..0.763381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
161618168122155841TC609379Benignnot_specified0.130630.182070.156350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
162618169122155853CT609380Benignnot_specified0.145320.184710.171530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
163295723122159008CA280489BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.13248.0.157750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
164295729122160111CT280462BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.132940.175750.164140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
165295733122161275GA279065BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.133250.174760.159550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
166295750122165901AG280514BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.349920.287570.346050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
167295753122165987GA279250BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.124640.17280.152160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
168295787122174600AG280605BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.783870.811560.761981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
169291236122191454GA275473BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.699140.746310.691490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
170285755122199245CT269992BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.524690.606650.424921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
171295864122202109CT279443BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.940870.983740.942291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
172295881122206649TC280764BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.93518.0.929911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
173295882122206942GA280765BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.935180.981180.929911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
174295887122207235TC279454BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.975660.993120.973641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
175439797122208030CT433614Benignnot_specified0.926880.968770.925921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
176295910122216574CA280779BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.550290.576940.444491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
177295912122216604CG280780BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.55036.0.444491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
178295913122217108GA280781BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.953790.986080.948081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
179138926124018277CG142629BenignDiamond-Blackfan_anemia0.983850.994630.976841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18092889124122986CT98796BenignUDPglucose-4-epimerase_deficiency|not_specified0.53492..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
181296841124128467CT281738BenignDeficiency_of_hydroxymethylglutaryl-CoA_lyase|.....0.883391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
182684182124134462CT657772Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18392602124134721TC98510BenignDeficiency_of_hydroxymethylglutaryl-CoA_lyase|...0.926270.90420.887381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
184673763124141011CT657752Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
185255488124143932AG249839Benignnot_specified0.92650.905280.887781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
186683937124180613CG657778Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
187683932124180623TC657780Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
188691124180962TC15730BenignFU1/FU2_POLYMORPHISM|Fucosidosis|not_provided.0.279120.211260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
189683990124181177CT657784Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
190683986124191720AG657770Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
191683925124192200AG657786Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
192296993125893927ATA280237BenignFamilial_hypercholesterolemia_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
193297006125894468CCTG281950BenignFamilial_hypercholesterolemia_1..0.903361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
194297011125894853GT282036BenignFamilial_hypercholesterolemia_1..0.571091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
195297021125895238CT280262BenignFamilial_hypercholesterolemia_1..0.569291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
196680991126126375AG657812Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
197669827126127425GA657800Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
198669828126128307CT657807Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19995963126131654GA101859BenignEichsfeld_type_congenital_muscular_dystrophy|n....0.814430.841850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
200680776126135913TC657744Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
201669830126136452AC657813Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
202261271126138136CA249869Benignnot_specified|not_provided0.68480.786130.747010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20395956126138262TC101852BenignEichsfeld_type_congenital_muscular_dystrophy|n...0.737170.813250.791930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
204669832126138451AG657821Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
205261274126139137CT249873Benignnot_specified|not_provided0.637140.794430.697680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
206669834126139392AG657829Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
207669835126139444GA657815Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20895959126140573CA101855BenignEichsfeld_type_congenital_muscular_dystrophy|n...0.631950.774730.697480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
209669836126141803GT657819Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
210297050126143821TC282081BenignSEPN1-Related_Disorders..0.762980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
211297053126143931TC280308BenignSEPN1-Related_Disorders..0.862220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
212297061126144437TCT280694Uncertain_significanceSEPN1-Related_Disorders...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
213297106126797654CT282168Likely_benignRetinitis_Pigmentosa,_Recessive..0.099640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
214635265129145188CT623097drug_responsebuprenorphine_response_-_Efficacy..0.459070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
215297151133245802CG282106BenignCharcot-Marie-Tooth_disease,_dominant_intermed...0.09880.098190.087460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
216670891133247797GT657853Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
217670337133251739TC657748Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
218670336133252887TC657861Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
219670889133256645GC657834Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
220670888133256884CA657841Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
221670335133276424GA657749Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
222297163133282775CA280382Benignnot_specified|Charcot-Marie-Tooth,_Intermediate0.09680.09760.085660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
223297175133283528GA280750BenignCharcot-Marie-Tooth,_Intermediate|not_provided..0.06030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
224297196135251229GA280761BenignErythrokeratodermia_variabilis_et_progressiva_.....0.403950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
225297204135251545GC282177BenignErythrokeratodermia_variabilis_et_progressiva_.....0.258191|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
226297210135251735GC282201BenignErythrokeratodermia_variabilis_et_progressiva_.....0.212861|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
227256790136937059AG249885Benignnot_specified0.608570.564810.592451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
228256789136937065AG249886Benignnot_specified0.299710.315610.246410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
229434837136939403CG427809Benign/Likely_benignnot_specified|not_provided0.003460.002990.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
230684263140319375CT656850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
231684262140319379TC656853Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
232297230140539076CT280445BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.667330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
233297233140539203AATGAT280826BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.614020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
234297234140539228GC282406BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.660740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
235297240140539448AC282423BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.661140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
236668044140555321CT657872Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237670733140557656GA657899Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238668040140558345TA657789Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239684006140558459GGGCATGTGAAAA657790Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240684001140558511AG657791Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
241297250140562993TC280858BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.832670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
242140502140722795GA150180not_providednot_provided..0.218050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
243140525140733658AG150203not_providednot_provided..0.222640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
244140535140737516TG150213Benignnot_specified|not_provided0.989850.985870.993211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
245140538140741899CT150216not_providednot_provided..0.913541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
246258399140773149TC249913BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.27810.303350.397360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
247683426140774194AC657914Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
248258392140776752CA249920BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.12271.0.178120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
249258387140777800TG249924Benignnot_specified0.27227.0.401560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
250258385140778377CT249927Benignnot_specified0.23773.0.37440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
251668734140781613TC657886Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
25245104141284366GC54271BenignDFNA_2_Nonsyndromic_Hearing_Loss|not_specified0.69170.675750.567491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
25345105141285087TC54272BenignDFNA_2_Nonsyndromic_Hearing_Loss|not_specified0.67630.651180.56331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
254402571141466803GA389436Benignnot_specified0.333230.40480.333070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
255402941141976328TC389395Benignnot_specified0.969070.988980.963061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
256402943141979156AG389444Benignnot_specified0.621670.668730.734430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257402944142046613GT389407Benignnot_specified0.18845.0.121210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258402945142046812CT389445Benignnot_specified0.978930.993440.977241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
259402946142049032GA389449Benignnot_specified0.954940.986810.949281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
260402947142049140CG389454Benignnot_specified0.955020.986850.949281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
261297335143200526TC280544BenignRenal_Hypomagnesemia,_Recessive..0.606831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
262194558143212431AG191721Likely_benignnot_specified..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
263674901143213499CT657889Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
264667664143213610TC657900Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
265667663143215571AG657995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
266667661143227867GA657824Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
267674899143228189TA657940Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
268674898143232807CG657944Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
269297374143392250CG282346BenignDystonia|Glucose_transporter_type_1_deficiency.....0.383390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
27095414143395635CT101313BenignDystonia|Glucose_transporter_type_1_deficiency...0.15116.0.119610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
27195411143396414GA101310BenignDystonia|Glucose_transporter_type_1_deficiency...0.163920.190220.141370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
272670109143409179GT657948Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
273668836143424051AG657832Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
274297395143424812CG282361BenignDystonia|Glucose_transporter_type_1_deficiency.....0.142170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
275259760143812075GA249934Benignnot_specified0.329080.30320.209670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
276260613143886494CT249939BenignSeizures|not_specified|not_provided0.338860.319110.198080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
277260619143901011AC249945Benignnot_specified0.314090.320030.198880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
278260620143903589GT249946Benignnot_specified0.33577.0.211860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
279260623143906896AG249949BenignSeizures|not_specified|not_provided0.318390.318350.196290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
280260626143909265TC249952BenignSeizures|not_specified|not_provided0.331160.330960.221050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
281262909144386615AG249955Benignnot_specified0.850430.881290.809111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
282262910144395786CT249956Benignnot_specified0.595880.668380.518770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
283415448145292173GA391273BenignGorlin_syndrome0.016070.044040.06290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
284239554145294693CT238304Benignnot_provided0.001230.003580.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
285261222145362992TC249960Benignnot_specified0.661080.658860.791130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28695947145444038GA101843BenignLeukoencephalopathy_with_vanishing_white_matte...0.28410.258760.296530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
287297453145452227GC281149BenignLeukoencephalopathy_with_vanishing_white_matter..0.480630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
288439920145796269GC432989Benignnot_specified0.926250.924460.93530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
289257529145798555TC249965Benignnot_specified0.930260.925510.93710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
290297505145975300GA280720Likely_benignDisorders_of_Intracellular_Cobalamin_Metabolism..0.118411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
291167524146655158TC177974BenignMuscle_eye_brain_disease|not_specified0.941260.983840.942491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
292130004146658217CT135450Benignnot_specified|not_provided0.01230.009010.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2936724146870761CA21763BenignFAAH_POLYMORPHISM.0.233310.261580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
294297544147716040TAAT281229BenignPrimary_Microcephaly,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29594095147717189AG99995BenignPrimary_autosomal_recessive_microcephaly_7|not...0.40850.497870.393370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29694094147726087TC99994Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_7|not...0.282640.242060.178320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
297670142147729034TG657961Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
298160057147735280TC168006Benignnot_specified|not_provided0.40872.0.394370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
299673949147753405GA657936Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
300670465147765490TC657937Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
301670581147767141CA657855Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30221354147767914GA34206BenignPrimary_autosomal_recessive_microcephaly_7|not...0.593110.503450.606430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
303670580147770441AC657963Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
304670141147770786TA657859Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
305193357147882497CT190521Benignnot_specified0.313180.350950.278551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
306559025153453683CT549525Benignnot_provided0.310060.221980.402161/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
307559026153453714GT549526Benignnot_provided0.174380.08720.191490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
308683619153666108TC657968Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
309680257153675532TC657867Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31092429153676448GA39074BenignCarnitine_palmitoyltransferase_II_deficiency|n...0.456410.484130.413140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
311460427153679096TC448240Conflicting_interpretations_of_pathogenicitynot_provided0.003310.002350.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
312368876153679878TC353105BenignCarnitine_palmitoyltransferase_II_deficiency..0.228240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3136996153712727CT22035risk_factorMyocardial_infarction_1.0.295290.144370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
314735250153727885GA743758Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
315297612155315351TC281322BenignDesmosterolosis..0.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
316297621155315941GT282895Likely_benignDesmosterolosis..0.010180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
317297623155316082AC282901BenignDesmosterolosis..0.983231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318297654155319902AG281388BenignDesmosterolosis0.666150.665060.62761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319297656155330966TC282617BenignDesmosterolosis0.987930.996840.988621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320297673155464743TC280880BenignBartter_syndrome..0.594051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321297674155464790CG281402BenignBartter_syndrome..0.595051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
32246553155474262GA55718Benign/Likely_benignBartter_syndrome|Bartter_syndrome_type_4|not_s...0.199680.158610.116011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323297681155474325AC282935BenignBartter_syndrome0.44649.0.362421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324368877155474476CG353106BenignBartter_syndrome..0.429911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325440703155504650GA434132BenignFamilial_hypercholesterolemia_1..0.601441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
32636666155505447CT45327Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob.....0.093850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
32736669155505668CT45330Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.09582.0.091250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328262904155505732AG249984Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.911640.936990.908551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329440710155505926CT434139BenignFamilial_hypercholesterolemia_1..0.093450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
330265925155518166GA260601BenignFamilial_hypercholesterolemia_1..0.549321|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331265928155518190ACA260605Uncertain_significanceFamilial_hypercholesterolemia_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
332265929155518198CA260604BenignFamilial_hypercholesterolemia_1..0.138581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
333262908155518467AG249988Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.504150.431150.466251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
334262899155523033AG249989Conflicting_interpretations_of_pathogenicityFamilial_hypercholesterolemia_1|Familial_hypob...0.97970.994540.981831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
335265943155524116CT260619BenignFamilial_hypercholesterolemia_1..0.869210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
336201126155524197AG196755Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.817780.85440.869210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
337201124155524237GA196757Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.817780.854440.869011/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33836670155529187GA45331Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.889440.943280.898961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
339770847155643658TC696804Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34017039157340727CA32078BenignCOMPLEMENT_COMPONENT_8,_ALPHA_SUBUNIT,_A/B_POL...0.320930.368380.343650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
341297752159041220CT282697BenignCorneal_Dystrophy,_Dominant/Recessive..0.256990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
342297754159041436TC282703Likely_benignCorneal_Dystrophy,_Dominant/Recessive..0.104630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
343297756159041577AG281504BenignCorneal_Dystrophy,_Dominant/Recessive..0.412940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
344297763159041809CT282981Likely_benignCorneal_Dystrophy,_Dominant/Recessive0.085.0.053910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
345297769159042311TG280967Likely_benignCorneal_Dystrophy,_Dominant/Recessive0.12250.097210.104030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
346297778159042997CT282741Likely_benignCorneal_Dystrophy,_Dominant/Recessive..0.104030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
347770850161872228CT777132Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
348585796162976259CT576551Likely_benignnot_provided0.000150.00032.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34995531163881552CT101430Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.7370.751430.830470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
350297858163903452TC280998BenignCongenital_disorder_of_glycosylation..0.68470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
351676174164059644CG657878Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
352297871164095111AG282807Benign/Likely_benignCongenital_disorder_of_glycosylation|Congenita...0.174460.130430.129791|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
353676177164095862GA657978Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
354297874164097432CT283126Benign/Likely_benignCongenital_disorder_of_glycosylation|Congenita...0.223130.24280.241410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
355558803164100478AT549534Benignnot_provided0.42350.414110.50020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
356676178164102114AG657879Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
357474681165849887GA448350BenignParkinson_disease_19a,_juvenile-onset0.018760.021450.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
358297982165886398TC282919BenignLeptin_receptor_deficiency|Monogenic_Non-Syndr...0.441840.551540.567890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
359487357166036501GT480430BenignLeptin_receptor_deficiency0.999460.9999111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
360298000166102257GA282947BenignLeptin_receptor_deficiency|not_specified|Monog...0.40750.452620.529750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
361298008166103042AACA281762BenignLeptin_receptor_deficiency|Monogenic_Non-Syndr......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
362298009166103101TC281763Uncertain_significanceLeptin_receptor_deficiency|Monogenic_Non-Syndr.....0.00160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
363298027170876959AT281783Likely_benignCystathioninuria..0.032350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
364676188176190569CG658055Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
365254691176194054CG250014Benignnot_specified0.25350.250610.182911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
366226050176194229GTG227862BenignMedium-chain_acyl-coenzyme_A_dehydrogenase_def......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36792259176198436TC98170Benign/Likely_benignMedium-chain_acyl-coenzyme_A_dehydrogenase_def...0.31760.274040.231231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
368676189176198785GA658062Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
369254689176199345CG250015Benignnot_specified0.317390.273660.231031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
370254690176205643CA250016Benignnot_specified0.258940.286080.19011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37192254176227022AG98165Benign/Likely_benignMedium-chain_acyl-coenzyme_A_dehydrogenase_def...0.249960.233350.174321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
372298078176229120TC281831Likely_benignMedium-chain_acyl-coenzyme_A_dehydrogenase_def.....0.098241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373298081176229326TC281218BenignMedium-chain_acyl-coenzyme_A_dehydrogenase_def.....0.691691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374402356177763542GA389423Benignnot_specified0.983930.995530.978831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375402357177883412CT389425Benignnot_specified0.129370.138260.12540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
376402358178024284TC389472Benignnot_specified0.716820.746190.68530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
377402359178024345CCTAT390495Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
378671176178383467GA658068Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
379683664178392867CT658080Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
380298100178408922CAC281853Uncertain_significanceHypertrophic_cardiomyopathy|Dilated_Cardiomyop......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
381225991178956432TC227744drug_responselatanoprost_response_-_Efficacy..0.782351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
382722691185462511CT732625Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
383298125192711972CG281871BenignGlomuvenous_malformations..0.616011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
384298167192940850GT281285BenignSevere_congenital_neutropenia..0.158150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
385298175192941357AG283194BenignSevere_congenital_neutropenia..0.808311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
386259698192944188GA250019Benign/Likely_benignSevere_congenital_neutropenia|Severe_congenita...0.014530.013570.005390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
387211078192946479GA206837BenignSevere_congenital_neutropenia|not_specified0.851880.888340.918931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
388402836192979354AG389473Benignnot_specified0.838380.851970.920331|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
389402838193089823TC389434Benignnot_specified0.913190.921580.949081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
390402839193160902TC389440Benignnot_specified0.912960.921580.950281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
391298213193306317GA283380BenignDiamond-Blackfan_anemia0.569060.6770.691891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
392136235194471075AG139938BenignMacular_degeneration|not_specified|Cone-Rod_Dy...0.775720.889380.769971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
393678762194474020GA658099Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
39499396194476388CG105285Benign/Likely_benignMacular_degeneration|not_specified|Cone-Rod_Dy...0.249270.219670.200680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
39599390194476467TA105279Conflicting_interpretations_of_pathogenicityMacular_degeneration|Stargardt_disease_1|Starg...0.047750.044560.020770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
39699389194476555GA105278not_providednot_provided..0.691490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
397680456194477232TG658070Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
398678761194480439TC657925Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
399680455194480529AC657991Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
400255923194487285AACA250031BenignMacular_degeneration|not_specified|Cone-Rod_Dy......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
401678759194495816TC658078Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
402678756194509226GT657938Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
403680452194525623AG658079Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40499079194528363CT104968not_providednot_provided..0.37360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
405193579194544135AAC190742BenignMacular_degeneration|not_specified|Cone-Rod_Dy......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40699037194544276GA104927BenignMacular_degeneration|not_specified|Cone-Rod_Dy...0.465480.481440.514781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407680451194566683TC658087Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
408166618194578548TC177452Benignnot_specified0.9877.0.987021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
409258821194930345GA250040Benignnot_specified|not_provided0.372210.392330.279950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
410298277197544258AG283459Likely_benignDihydropyrimidine_dehydrogenase_deficiency..0.106830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
411100080197770920CT105957Benign/Likely_benignDihydropyrimidine_dehydrogenase_deficiency|not...0.041370.046470.043930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
412100086197847874TC105963not_providednot_provided..0.226640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
413100092197981395TC105969Benign/Likely_benignDihydropyrimidine_dehydrogenase_deficiency|not...0.183610.192960.18490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
414100103198039541AG105980Benign/Likely_benignDihydropyrimidine_dehydrogenase_deficiency|not...0.094820.104580.06370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
415100105198060481AC105982not_providednot_provided..0.109230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
416100123198348885GA106000BenignDihydropyrimidine_dehydrogenase_deficiency|not....0.765170.739821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4176760911100316765CT658089Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4182567501100327026CT250042Benignnot_specified0.241810.196230.227240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4196827101100328272GA657959Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4206760921100329889GC658003Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4216760941100330237AG658006Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4226779431100330295TC657960Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4236792831100335788AG658096Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4241984321100336361CT195593BenignGlycogen_storage_disease_type_III|not_specifie...0.767110.721410.762580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4252567511100340225GA250046Benignnot_specified|not_provided0.748310.731420.743410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4266800371100347463CA658117Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4272567301100353675GA250058BenignGlycogen_storage_disease_type_III|not_specifie...0.654850.689760.681110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4282567341100358103CT250062Benign/Likely_benignGlycogen_storage_disease_type_III|not_specifie...0.139470.136130.110620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4292567351100358200GA250063Benignnot_specified|not_provided0.654950.69120.681510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4306827271100358451GA658121Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4316800381100362180GA658125Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4326800391100377789CT658124Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4332913591100387939CT283552BenignGlycogen_storage_disease_type_III..0.590450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4342913951100655583TA275557BenignMaple_syrup_urine_disease..0.766771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4352913961100655695TAAT275589Uncertain_significanceMaple_syrup_urine_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4362914041100656265CT275613BenignMaple_syrup_urine_disease..0.800721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4372914071100656661TC275571BenignMaple_syrup_urine_disease..0.769571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4382914241100658578GA275625BenignMaple_syrup_urine_disease..0.769571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4391288851100672060TC134332BenignMaple_syrup_urine_disease|not_specified.0.913770.891771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4406812211100673032AG656866Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4416812201100683906GT656835Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4426812191100695989AC656873Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4437763391100740485TC695917Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4446829651100819273TC656814Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4452914771103342392TC275622BenignMarshall_syndrome|Fibrochondrogenesis_1|Stickl.....0.224440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4466812091103345744CG656841Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4476812081103348460AT656816Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4486812071103352076CT656844Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4492584701103352451AG249270BenignMarshall_syndrome|Fibrochondrogenesis_1|not_sp...0.448410.580150.484630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4502584671103354115TC249273Benignnot_specified0.12840.135420.173521|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
451171371103354138AG32176BenignMarshall_syndrome|Lumbar_disc_herniation,_susc...0.807010.794160.782950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4522584661103354428AG249274BenignMarshall_syndrome|Fibrochondrogenesis_1|not_sp...0.622940.723870.62260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4532584651103356107AG249275Benignnot_specified0.12328.0.173720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4546812031103379548AG656837Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4552584611103379918GA249279BenignMarshall_syndrome|Fibrochondrogenesis_1|not_sp...0.451720.591550.496610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4565161771103380379TTA497941Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4576812011103386485TC656854Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4586812001103386807CT656865Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4596811991103404323AG656867Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4606811981103404936AT656895Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4616747561103428389GA656897Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4622584451103444679TG249292Benignnot_specified0.551670.691250.629191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4636747551103449598GC656882Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4646747541103455217CT656884Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4652584431103461508TA249294Benignnot_specified|not_provided0.905480.953640.923921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4666747521103463976GT656887Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4676811971103464210TC656893Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4686747511103467615CT656896Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4696747501103483514CT656903Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4706747491103496620GT656905Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4712188281103496805GAG215177Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4722584501103548319CG249303Benignnot_specified|not_provided0.456250.59180.576281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4736747471103573547GA656914Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4746813601109446045CG656944Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4756817821109456850GA656975Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4766833181109460963CT656976Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4772266491109465165ACTTA228257Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4786817841109466858GA656980Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4792917111109472773GA276041Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.368210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4802917141109473017CT276043Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.207070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4812597441110148974CT249359BenignAchromatopsia|not_specified0.330620.449040.378590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4826771691111661413TC656955Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4836835501112319388AG656981Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4846820431112321322TC656919Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4856838891112329296GA656983Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4862918271113454571AG276274Likely_benignHyperinsulinism,_Dominant..0.247010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4872918311113455099GA276277Likely_benignHyperinsulinism,_Dominant..0.675521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4881303151113456546AT135762Benign/Likely_benignnot_specified|Hyperinsulinism,_Dominant0.666230.597210.676721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4892604431113659065ACTA249366Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4907692391114372332TAT777012Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49189101114415368GC23949risk_factorDiabetes_mellitus,_insulin-dependent,_suscepti.....0.747011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4921577181114438951AG167566BenignHistory_of_neurodevelopmental_disorder|Spastic...0.437950.318640.3770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4933807671114447565GA364302Benignnot_specified..0.329470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4942919461115247749TAT275943Likely_benignNoonan_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4952919671115249843GA276416Likely_benignNoonan_syndrome..0.150960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4965618211115252609GC552484Benignnot_provided..0.87640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4972566401115576023AG249367BenignCongenital_hypothyroidism|Secondary_hypothyroi...0.975240.970660.983631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4982919931115829313GA276307BenignCongenital_sensory_neuropathy_with_selective_l...0.369140.365570.24740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4996676721115881055GA656988Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5002920051116206423GA276198Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome0.12410.14210.115021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5012920171116234217CT276462Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.066690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5022920181116234300CT276201Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.066690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5032920201116234313AG276202Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.739421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5042920251116234505AG276336Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.739421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5052920271116234694CA276337Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.06530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5062920521116236351TG276395Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.442091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5072920541116236489CT276234Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.073080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5082920571116236581GA276235Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.102440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5092920661116237417CT276023Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.073280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5102920671116237496TA276398Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.337660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5112920751116238478CT276248Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.44011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5122920761116238504CT276408Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.175521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5132920841116239266CT276527Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.175321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5142920881116239368GA276533Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.423321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5152920951116239751AG276037Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.43751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5162920971116239841AT276256Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.423121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5172921011116239995AT276450Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.423121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5182921061116240212CT276480Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.175721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5192921071116240321TG276262Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.072280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5202921121116240721AG276263Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.102241|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5212921131116240756TTC276264Likely_benignNeural_tube_defect|Catecholaminergic_polymorph......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5222921181116242844ATA276578Likely_benignNeural_tube_defect|Catecholaminergic_polymorph......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5232921201116243230CG276271Benign/Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.717851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5242921221116243380GA276272Benign/Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.700881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5252921241116243724AG276056Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.103630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
526441571116243877GA53325Benign/Likely_benignNeural_tube_defect|Catecholaminergic_polymorph...0.387980.383790.425721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5276721861116245809CT656936Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5286832951116245899TC656990Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5296832941116247535GC656992Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5306832931116247557CG656993Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5312576531116247790GA249368Benignnot_specified0.40120.348620.428710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5322576521116260532AT249369BenignVentricular_tachycardia,_catecholaminergic_pol...0.59926.0.642770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5336720651116260604GA656948Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5346717421116268283CT657041Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5356832921116269331CA657044Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
536441631116283343AG53331BenignCatecholaminergic_polymorphic_ventricular_tach...0.708440.787170.643571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5376717411116283526GA656994Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5386720641116283625AG657011Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5396784551116283699AG656996Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5406832911116283747TC657015Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5416720631116287682TC657016Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5422922991120254506AG276862BenignPhosphoglycerate_dehydrogenase_deficiency..0.698280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5432923001120254545GC276166BenignPhosphoglycerate_dehydrogenase_deficiency..0.817490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5442923061120263780TC276179Likely_benignPhosphoglycerate_dehydrogenase_deficiency0.014380.004970.018770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5452923211120285546GA276452BenignPhosphoglycerate_dehydrogenase_deficiency|not_...0.706060.692410.722240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5462923261120291471TAAACT276923Uncertain_significancemitochondrial_3-hydroxy-3-methylglutaryl-CoA_s......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5476841881120293748TG657050Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5486841831120307515CG657022Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5492617021120480583GA249380BenignHajdu-Cheney_syndrome|not_specified0.071510.022180.071090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5507695271144921924GA696066Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5517692431144922523CT696065Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5524032941144923728GTG390579Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5537676941144923823TAGGAAGAAACGGCAT776998Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5542924411147229662GA276310Likely_benignFamilial_atrial_fibrillation..0.067491|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5552924561147245383TC276317Likely_benignFamilial_atrial_fibrillation..0.18830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5563688281147245474GC353057Likely_benignFamilial_atrial_fibrillation..0.974841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5573688291147245497CT353058Likely_benignFamilial_atrial_fibrillation..0.18830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5586808011150460168AG657024Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5596808031150462811CT657029Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5606808051150464603AG657075Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5616764281150470322CA657069Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5623811751150471157TA364442Benignnot_specified0.023450.040550.046330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5636808061150476516GA657030Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5646764291150477061CT657083Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5652610761150531008TC249390BenignEctopia_lentis|Ectopia_lentis_et_pupillae|not_...0.867520.906690.81451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5662610771150531050GA249391BenignEctopia_lentis|Ectopia_lentis_et_pupillae|not_...0.843530.867570.87841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5675170111150531170CT498023Benignnot_specified0.915960.976770.921531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5682926001151313774AG276632BenignBare_lymphocyte_syndrome_2..0.6281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5692926051151314379TC276401BenignBare_lymphocyte_syndrome_2..0.764381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5702926121151315287GC277245Benign/Likely_benignBare_lymphocyte_syndrome_2|not_specified0.118870.118750.06351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5714033731151316161GA389326Benignnot_specified0.975240.993350.978041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5724028681152282684GA389322Benignnot_specified0.029520.030660.012980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5732926251154134557AC277165BenignNemaline_myopathy|Congenital_fiber-type_dispro.....0.321490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5742926521154136657GT277319Uncertain_significanceNemaline_myopathy|Congenital_fiber-type_dispro.....0.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5752926661154138228GA277341BenignNemaline_myopathy|Congenital_fiber-type_dispro.....0.320090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5762926771154139165CCT277239BenignNemaline_myopathy|Congenital_fiber-type_dispro......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5772926821154139381AC276481BenignNemaline_myopathy|Congenital_fiber-type_dispro.....0.322880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5782626271154141908AG249393Benignnot_specified|not_provided0.602180.607670.732230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5792599171154245917TC249399Benign/Likely_benignSevere_congenital_neutropenia|not_specified0.099190.11360.075280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
580146601154426970AC29699associationInterleukin_6,_serum_level_of,_quantitative_tr....0.375620.293131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5812927131154554951AAGGGGCATG277338Uncertain_significanceSymmetrical_dyschromatosis_of_extremities...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5822927171154555492TC276509BenignSymmetrical_dyschromatosis_of_extremities..0.598041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5832927211154555733AT276511BenignSymmetrical_dyschromatosis_of_extremities..0.194690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5842927291154556266GA277418BenignSymmetrical_dyschromatosis_of_extremities..0.597841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5852927341154556425GA276770BenignSymmetrical_dyschromatosis_of_extremities..0.394971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5862927401154556663GA277437BenignSymmetrical_dyschromatosis_of_extremities..0.396171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5872574751154557685CT249407BenignSymmetrical_dyschromatosis_of_extremities|not_...0.40320.4630.388781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5881951121154573967TC192273BenignSymmetrical_dyschromatosis_of_extremities|not_...0.607870.695610.62261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5895003351154574820TC491759Benignnot_specified0.995690.998760.996211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5902574761154575040CT249409BenignSymmetrical_dyschromatosis_of_extremities|not_...0.997160.999160.997011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5914030011154744807CG,T389335Benignnot_specified0.58158.0.535341|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
5924030021154744852AG389312Benignnot_specified0.705140.761570.779151|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5932568711155205669GT249411Benignnot_specified|not_provided.0.984230.94091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5941815191155870416GA178910Benignnot_specified|not_provided0.79340.877190.779751|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5955614951155873960AG552490Benignnot_provided..0.850241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5962270471155880573CG228267Benignnot_specified|not_provided0.795250.877460.779951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5975614031155880952GA552497Benignnot_provided..0.356231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5986743101156011444TC655043Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5996836221156085375TC657048Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6006689221156095648TC657087Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6016836131156095712TC657090Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6026727511156095756CT657094Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6036727521156095848CT657095Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6046727781156096387GA657102Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6056727791156096417TG657096Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6066727801156096873TC657112Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6076727811156096919GA657110Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6081921901156099669TG189381BenignHutchinson-Gilford_syndrome|not_specified0.187540.163010.197680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6096689231156100139TC657104Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6106727821156100739TC657111Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6116836141156100838CG657115Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6126727831156103997AC657051Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
613480711156104292GA57235Benign/Likely_benignCardiomyopathy|Hutchinson-Gilford_syndrome|Cha...0.005690.009720.007991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
614480881156105028TC57252BenignCardiomyopathy|Hutchinson-Gilford_syndrome|Cha...0.197830.109430.193090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6156830611156105337CT657105Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
616364741156105928GA45136Benign/Likely_benignPrimary_dilated_cardiomyopathy|not_specified|n...0.197520.107650.192290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
617480371156106185TC57201BenignCardiomyopathy|Hutchinson-Gilford_syndrome|Cha...0.25412.0.24920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6186727841156106369GA657120Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
619668341156106863CT77731Benignnot_specified|not_provided0.18730.106370.182310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6206836151156108019CT657114Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6216830621156108048TC657123Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
622667561156108976GC77653not_providednot_provided0.17674.0.18530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6232615761156146218CT249423Benignnot_specified|Cone-Rod_Dystrophy,_Recessive|Re...0.531760.527250.430910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62433621156146640GA18401Benign/Likely_benignRetinitis_pigmentosa_35|not_specified|Cone-Rod...0.034680.035410.021771|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6256677361156785356TC657124Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6263808531156785617GA364541Benignnot_specified0.617720.667410.636981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6276677671156785771AG657128Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6286677681156785779GA657107Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6296677381156838141TC657082Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6306677411156841259AC657129Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6316677431156841674GA657131Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6326677631156848794CT657109Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6336677641156848808TC657091Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6342928911156848909CAC277584Benign/Likely_benignHereditary_insensitivity_to_pain_with_anhidros...0.06670.06250.089261|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6351385641156848995CT142267BenignHereditary_insensitivity_to_pain_with_anhidros...0.556830.572360.334070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6361385651156849775TC142268Benignnot_specified0.111330.064090.12240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6376677651156850104GC657121Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6386677661156850112TG657130Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6396705561156851041TG657097Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6402929171158580553TAT277518Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|S......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6412929201158580759GA276935Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|S.....0.503990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6422589581158582646TC249424Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.509480.538490.504790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6432589571158584091AG249425Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.506810.537350.506190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6442929471158584103GGAA276686Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6452589551158587390CT249427Conflicting_interpretations_of_pathogenicityElliptocytosis|Hereditary_pyropoikilocytosis|n...0.48524.0.491010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6462589431158607935TG249439Conflicting_interpretations_of_pathogenicityElliptocytosis|Hereditary_pyropoikilocytosis|n...0.218360.273680.245610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6472589421158612236AG249440Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.59956.0.594050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6482589301158618455GA249450Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.203330.253390.228240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6492589291158619728AC249451Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.993970.998260.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6502589261158626378CT249454Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.386960.309270.423520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6512589221158631171AC249458Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.22536.0.243610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6522930281158637865GAAAG276726Uncertain_significanceElliptocytosis|Hereditary_pyropoikilocytosis|S......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6532589171158644105TA249462Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.327120.399910.354230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6542589621158647495AT249465Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.958050.984970.956871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6552589611158647522AG249466Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.477730.544910.453870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6562589591158647631TA249468Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.958110.984940.956871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6572589161158655036GA249471Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.973190.991970.969851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6582589201158656281TC249472Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.973130.991950.969851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6592930661158656432GGA277611Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|S......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6602930901160009121AC276775Likely_benignPendred_syndrome|Seizures,_Sensorineural_Deafn.....0.481031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6612930911160009143GC277643BenignPendred_syndrome|Seizures,_Sensorineural_Deafn.....0.99821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6622931021160009419AC276778BenignPendred_syndrome|Seizures,_Sensorineural_Deafn.....0.862821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6636680001160085281AT657100Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6646782001160085868AC657103Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6656680171160085955AC657133Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6666707391160090674TC657139Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6671667051160090681CCCTTC177497BenignFamilial_hemiplegic_migraine|Alternating_hemip......1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6686689751160091346GA657142Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6691971631160093222CT194324Benignnot_specified0.949410.984910.942491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6706707401160093911TC657155Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6716747171160093942GA657126Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6726780761160094458AG657135Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6736680181160094644AG657106Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6746707551160095127TA657134Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6756707561160097666GA657116Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6761284771160098543GA133926BenignFamilial_hemiplegic_migraine|Alternating_hemip...0.19245.0.209671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6776713401160110812CT657187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6782931471160111701GC277097Likely_benignFamilial_hemiplegic_migraine|Alternating_hemip.....0.208871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6792931601160112138AG277810Likely_benignFamilial_hemiplegic_migraine|Alternating_hemip.....0.212461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6802931621160112207TA277121Likely_benignFamilial_hemiplegic_migraine|Alternating_hemip.....0.212461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6812931751160112594CAC276850BenignFamilial_hemiplegic_migraine|Alternating_hemip......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6822931791160112741TC277817Likely_benignFamilial_hemiplegic_migraine|Alternating_hemip.....0.212861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6832931891160113371TA277710Likely_benignFamilial_hemiplegic_migraine|Alternating_hemip.....0.217851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6842931961160247185GC277712BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.564150.452281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68548951160807715TC19934risk_factorRheumatoid_arthritis..0.56151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6862932381161136224CA277167Likely_benignVariegate_porphyria..0.359230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6872932441161136343CG277833Likely_benignVariegate_porphyria..0.021770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6886711381161178684TC657138Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6891296971161182208CG135143Likely_benignMitochondrial_complex_I_deficiency|not_specifi...0.068660.078440.049320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6906780421161182484AG657160Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6912932921161192316GA277897Likely_benignApolipoprotein_A-II_deficiency0.082190.113520.103040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6921977721161202605GA194933Benignnot_specified0.269870.353430.336260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6932933041161274905TC277907BenignRoussy-Lévy_syndrome|Charcot-Marie-Tooth_disea.....0.136381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6946831891161276434AG657140Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6956676461161279518TC657151Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6966831881161279882AG657168Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
697148231161479745AG29862drug_responseLupus_nephritis,_susceptibility_to|Pseudomonas....0.47910.441690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6982426851161599693TC45587Benignnot_provided.0.588730.532951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6998015681161751741AG789872BenignAchromatopsia_7...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7008015721161823011TA789876BenignAchromatopsia_7...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7012599361162722846CG249489Benignnot_specified0.973010.992350.970451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7022599301162740327TC249493Benignnot_specified0.94756.0.945491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7032599321162743418GT249495Benignnot_specified0.99477.0.992411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7042933881162750210CTTC278133BenignSpondyloepimetaphyseal_dysplasia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7057677241167871297GGA777031Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7062525761168105581AAG246866Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7072934811168282261TA277084BenignAdrenocorticotropic_hormone_deficiency0.45639.0.489420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7082934971168283158AAAAGA277351BenignAdrenocorticotropic_hormone_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7092935201169435027CT278187BenignThiamine-responsive_megaloblastic_anemia|Megal.....0.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7106838541169446183AG657157Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7116838501169455435GC657162Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7122935411169481223CG278256Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_.....0.912341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7132935461169481950GA277166Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_.....0.275560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7142935541169482436GA278264Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_.....0.477440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7152552111169498834TC249500Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.916350.932570.93631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7162552101169498975TC249501Conflicting_interpretations_of_pathogenicityThrombophilia_due_to_activated_protein_C_resis...0.289410.335060.308710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7172552081169510233GA249503Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.329080.295820.182110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7182552021169511555TC249507Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.24350.273660.262780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7192552011169511734TC249508Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.243730.273770.262780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7202552001169511755TC249509Conflicting_interpretations_of_pathogenicityThrombophilia_due_to_activated_protein_C_resis...0.243580.276840.266770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7212551961169512027TC249512Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.243580.273650.262780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7222551941169512093AG249514Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.24350.273680.262780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7232551931169512120GA249515Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.243580.273610.262780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7242260071169519049TC227743drug_responsehormonal_contraceptives_for_systemic_use_respo....0.97850.994011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7252551971169551682TC249526Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.205410.313540.226440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
726135271169563951TG28566BenignSELECTIN_P_POLYMORPHISM.0.082080.035940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7272626291170521376GA249533BenignGeroderma_osteodysplastica|not_specified0.48585.0.592650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7282600741171077198GA249539Benignnot_specified0.546440.504850.538540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7292600761171077372CG249541BenignTrimethylaminuria|not_specified0.2332.0.198880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
730163051171080080GA31344Benign/Likely_benignTrimethylaminuria|not_specified.0.080520.097640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7317677261171178257CCT696269Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7322937091171605539AG277613Benign/Likely_benignGlaucoma|Primary_open_angle_glaucoma|not_speci...0.02184.0.012180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7335954951172411496AG586557Benignnot_specified0.853760.87470.924120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7346837031173807157CT657200Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7352244861179519880TC226216BenignSteroid-resistant_nephrotic_syndrome|Nephrotic.....0.901761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7362244851179520050TC226217Likely_benignSteroid-resistant_nephrotic_syndrome|Nephrotic.....0.283150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7372244831179520151CT226219BenignSteroid-resistant_nephrotic_syndrome|Nephrotic.....0.905151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7382938451179520254CG278562Likely_benignSteroid-resistant_nephrotic_syndrome..0.587861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7392604321179520506GA249553Benign/Likely_benignSteroid-resistant_nephrotic_syndrome|Nephrotic...0.61718.0.587661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7402604241179544898TC249559BenignSteroid-resistant_nephrotic_syndrome|Nephrotic...0.966320.961570.930911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7412251441179545050CA227036Likely_benignSteroid-resistant_nephrotic_syndrome|Nephrotic...0.193140.365380.183311|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7422576991179852074TC249561Benignnot_specified0.5692.0.608831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7432577011179858444GA249563Conflicting_interpretations_of_pathogenicityMuscular_dystrophy,_limb-girdle,_type_2y|not_s...0.583060.646590.635381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7442577031179876988CG249565Benignnot_specified0.54021.0.584061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7452576981179887125GA249568Benignnot_specified0.92750.94850.918531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7462938661180240510TC278580Likely_benignCombined_Pituitary_Hormone_Deficiency,_Dominant0.059050.06650.041330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7472622251180243524AG249572BenignPituitary_hormone_deficiency,_combined_4|not_s...0.410660.485020.426320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7482938821182350896CG277506BenignGlutamine_deficiency,_congenital..0.675720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7492938911182351233GA277529BenignGlutamine_deficiency,_congenital..0.713460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7502938931182351422AG278611BenignGlutamine_deficiency,_congenital..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7512939021182351627TA277558BenignGlutamine_deficiency,_congenital..0.854631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7522939031182351630TTAAATGA277731BenignGlutamine_deficiency,_congenital...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7532939251182352621TC277624BenignGlutamine_deficiency,_congenital..0.670330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7542939341182353198AT278734BenignGlutamine_deficiency,_congenital..0.675720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7552939491182356399AG277633BenignGlutamine_deficiency,_congenital0.59050.574810.675720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7562939501182359678CA277634Likely_benignGlutamine_deficiency,_congenital..0.010981|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7572939621182360843CG278664BenignGlutamine_deficiency,_congenital..0.857431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7582939661182360930AG278773BenignGlutamine_deficiency,_congenital..0.856631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7592939711182361162CG277777Likely_benignGlutamine_deficiency,_congenital..0.093250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7602939831183155482CA278713BenignEpidermolysis_bullosa,_junctional0.221820.37990.274760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7612597851183177218AG249573BenignEpidermolysis_bullosa,_junctional|not_specified0.447490.473860.496210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7622941551185984517TC277933Likely_benignMacular_degeneration0.346430.427090.343050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7632941831186026474TC277951Benign/Likely_benignMacular_degeneration|Age-related_macular_degen...0.525370.53890.529950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7642941861186031041CT278860Likely_benignMacular_degeneration0.62840.597970.654350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
765962081186050417AG102102Benign/Likely_benignMacular_degeneration|Age-related_macular_degen...0.554980.545280.582670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7662942011186055371AG278898Likely_benignMacular_degeneration0.628110.578320.661340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7672942311186086578GA279089Likely_benignMacular_degeneration0.63263.0.675520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7682943231186159684CT278073Likely_benignMacular_degeneration..0.183310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7695183091186273994CT508763BenignCamptodactyly_arthropathy_coxa_vara_pericardit...0.296480.3050.231631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7705183111186277989AG508765BenignCamptodactyly_arthropathy_coxa_vara_pericardit...0.284640.301590.221251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7716923031186280235GA680086Uncertain_significanceFetal_akinesia_sequence|Arthrogryposis_multipl......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7726768071193202001CG657203Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7732944291193220974GGT279150Uncertain_significanceParathyroid_carcinoma|Hyperparathyroidism_2|Is......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7742944881196654324AC279197BenignMacular_degeneration|Mesangiocapillary_glomeru...0.60810.666620.713060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7752944901196659237CT278205BenignMacular_degeneration|Mesangiocapillary_glomeru....0.672070.733430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7762944981196695742AG278184BenignMacular_degeneration|Mesangiocapillary_glomeru...0.136940.194740.202880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7772945091196709774GT278188BenignMacular_degeneration|Mesangiocapillary_glomeru...0.138010.195480.203280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7787782401196759282CT696347Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7792945621196978615TG278235BenignMesangiocapillary_glomerulonephritis,_type_II..0.277761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7802945661197008365CT278241Likely_benignFactor_XIII_subunit_B_deficiency..0.228440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7812585041197009798AG249586BenignFactor_XIII_subunit_B_deficiency|not_specified0.388610.527010.524960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7822945861197030087CT279299Uncertain_significanceFactor_XIII_subunit_B_deficiency0.005840.007690.003390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7832585051197030201TC249588BenignFactor_XIII_subunit_B_deficiency|not_specified0.756150.880520.783751|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784165201197031021CT31559BenignFactor_XIII_subunit_B_deficiency|Venous_thromb....0.871970.761781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7852945911197053373GA278274BenignPrimary_Microcephaly,_Recessive..0.782351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7866780551197055782TC657204Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7871577751197055925TC167622BenignPrimary_autosomal_recessive_microcephaly_5|not...0.755120.878630.782751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7886739241197059878GA657210Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7896739231197059892AG657173Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7906739221197059928AG657196Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7916688751197060783AT657198Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7921579021197063352CT167749Benignnot_specified|not_provided0.313250.348060.214260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7936679991197064826AG657205Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7946780541197064897TTGTA657208Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
795216111197070442GT34463BenignPrimary_autosomal_recessive_microcephaly_5|not...0.3229.0.214260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
796216051197070697TC34457BenignPrimary_autosomal_recessive_microcephaly_5|not...0.321080.340890.214260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
797216041197070707GA34456BenignPrimary_autosomal_recessive_microcephaly_5|not...0.32172.0.214260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
798216021197070815TC34454BenignPrimary_autosomal_recessive_microcephaly_5|not...0.786920.887560.81591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
799215991197070901AG34451BenignPrimary_autosomal_recessive_microcephaly_5|not...0.995690.99560.99741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
800215931197072420TC34445BenignPrimary_autosomal_recessive_microcephaly_5|not...0.321330.340780.213060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
801215861197073932TC34438BenignPrimary_autosomal_recessive_microcephaly_5|not...0.322370.343890.214460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8026739111197086669CT657216Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
803215781197091537AT34430BenignPrimary_autosomal_recessive_microcephaly_5|not...0.754730.877880.782551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8046781941197091808TC657220Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8056704231197093098AT657224Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
806215731197094030CT34425Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_5|not...0.263530.280110.216650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8076780531197098143GC657214Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8086679981197099485AG657225Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8096739101197101303CA657215Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8106780511197102839AC657227Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8116781901197102926CT657238Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8126739091197103975GA657219Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8136780501197108693CT657234Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8141577881197109042CT167635Benignnot_specified|not_provided0.75550.877880.782551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
815958901197112533GA101786BenignPrimary_autosomal_recessive_microcephaly_5|not...0.730780.869780.755591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
816958881197113073GA101784Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_5|not...0.730240.870380.755591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
817966601197297540AT102553BenignLeber_congenital_amaurosis|Pigmented_paravenou...0.286570.445710.403161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8182632601197316435TC249591Benignnot_specified0.830850.818410.839260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8191669561197390368AG177648Benignnot_specified0.921040.978060.919731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8204277521198776931CA417641PathogenicAcute_myeloid_leukemia_with_maturation..0.477240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8214277531198796120CT417642PathogenicAcute_myeloid_leukemia_with_maturation..0.518371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8224277541198867678GT417643PathogenicAcute_myeloid_leukemia_with_maturation..0.795731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8234277551198868084GA417644PathogenicAcute_myeloid_leukemia_with_maturation..0.795531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8244277561198869514TC417645PathogenicAcute_myeloid_leukemia_with_maturation..0.820091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8257677401200880978CT696372Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8266782411201009897TC657244Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8271996801201020105AG196497BenignMalignant_hyperthermia_susceptibility|Hypokale...0.754810.770490.880391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8286680571201020574TG657255Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8296688801201023034CG657228Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8306680561201023980GC657233Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8312548261201028299GA249614Benignnot_specified0.015070.015270.004390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8326680551201037962TC657261Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8336782981201042618GA657273Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8346782971201042983GA657276Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8356680541201043301CT657281Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8366680531201044344CT657245Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8372548041201044748AG249634BenignMalignant_hyperthermia_susceptibility|Hypokale...0.703290.781370.759591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8386782211201046379TG657275Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8396782201201046388AG657278Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8406782191201052640GA657249Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8416782181201058692TC657290Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8426782161201060525CT657277Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8432548521201060865GA249654BenignMalignant_hyperthermia_susceptibility|Hypokale...0.329770.388670.305111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8442947951201252701AT279712BenignEctodermal_dysplasia_skin_fragility_syndrome..0.613620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8452948391201299470AC278505BenignEctodermal_dysplasia_skin_fragility_syndrome..0.671931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8462948461201299748GA279643BenignEctodermal_dysplasia_skin_fragility_syndrome..0.629391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8472948471201299785AC278428BenignEctodermal_dysplasia_skin_fragility_syndrome..0.801321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8482948511201299852AG278508BenignEctodermal_dysplasia_skin_fragility_syndrome..0.62741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8492948541201299900GA278432BenignEctodermal_dysplasia_skin_fragility_syndrome..0.62741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8502948711201300842TC279691BenignEctodermal_dysplasia_skin_fragility_syndrome..0.904151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8512948721201300858CA278521BenignEctodermal_dysplasia_skin_fragility_syndrome..0.946691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8522948861201301873AG279700BenignEctodermal_dysplasia_skin_fragility_syndrome..0.842251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8532948871201301906CG279701BenignEctodermal_dysplasia_skin_fragility_syndrome..0.864221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8542568451201331554TG249665BenignFamilial_hypertrophic_cardiomyopathy_2|not_spe...0.734120.733490.742211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8556719461201331664CA657344Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856436321201334382GA52801Benign/Likely_benignCardiomyopathy|Hypertrophic_cardiomyopathy|Lef...0.682760.71940.695091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8576840181201336641GA657303Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8582568431201336984CT249666Benignnot_specified0.32685.0.285541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8596719451201337170AG657292Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8606840131201342862CT657320Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86181121203155882GC23151risk_factorAsthma-related_traits,_susceptibility_to,_7..0.785541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8622949491203198845CT279777Likely_benignChitotriosidase_deficiency0.03920.056980.020770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8636772221203472112TC655057Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8642563801204129671AC249672Benignnot_specified0.24643.0.281150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8654030181204159611CTC389367Benignnot_specified0.167240.29830.221850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8668016061205031116CT789914BenignEpilepsy,_familial_adult_myoclonic,_5...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8672606581205129319GA249674Benignnot_specified0.285640.300960.371410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8682606571205130413AG249675Benignnot_specified0.930190.931670.961061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8694034511205884274TC389347Benignnot_specified0.199370.105490.154150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8704034541205890679TC389371Benignnot_specified0.904280.915040.914141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871168731206946407TG31912protective,_risk_factorHuman_immunodeficiency_virus_type_1,_susceptib.....0.56511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8724024441207297680TC389358Benignnot_specified0.860990.854490.857831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8738109141207653364AG799152Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8744025621207653395CA389350Benignnot_specified0.878790.883540.942891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8752949831207967719TC278756BenignAtypical_hemolytic_uremic_syndrome..0.347240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8763688591209788213TC353088BenignEpidermolysis_bullosa,_junctional..0.774760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8772950591209788514GA280031BenignEpidermolysis_bullosa,_junctional..0.295130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8782555901209792015AAC249681BenignEpidermolysis_bullosa,_junctional|not_specifie...0.951840.956690.983631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8792555871209799253AG249684BenignEpidermolysis_bullosa,_junctional|not_specified0.7460.756450.764980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8802555981209804095GA249689BenignEpidermolysis_bullosa,_junctional|not_specified0.840610.847170.823280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8812555961209807972GA249691BenignEpidermolysis_bullosa,_junctional|not_specified0.31370.362480.245410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8822555921209811886TG249694BenignEpidermolysis_bullosa,_junctional|not_specified0.574580.570940.432510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8832555841209823354GA249695BenignEpidermolysis_bullosa,_junctional|not_specified0.242350.277910.297920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8842951751209959614GT280046BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.30991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8852951781209959872GA280163BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.808111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8862951841209960436GA280053BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.299121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8872951901209960925TC280057BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.297121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8882951931209961023TA280172BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.303711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8892951991209961314TC280174BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.087461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8902599261209965587GC249700Benignnot_specified0.34453.0.405151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8912599251209968684CA249701BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn...0.34238.0.403751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8922599231209969902GC249702BenignVan_der_Woude_syndrome|not_specified0.330540.326010.270971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8932952671211665298AAG278948BenignLeber_congenital_amaurosis..0.739020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8942953051211666218AG278964Likely_benignLeber_congenital_amaurosis..0.482030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8957176111211844535CG729961Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8964032281211846876AG389380Benignnot_specified0.501460.558360.603040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8971779931215848641TC172380Benignnot_specified0.754420.766190.68971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8986678981215901987GT657334Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
899483781215914826TC57540Benignnot_specified0.21844.0.159341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
900483771215916563GA57539BenignUsher_syndrome,_type_2A|not_specified0.202450.191850.144571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9016788861215931704TC657298Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9026678971215932743TG657339Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9036678961215933460CT657341Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9046724651215955813TC657342Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9056788851215955869TC657346Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9066788841215955937TG657343Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
907483441215960167TG57506BenignUsher_syndrome,_type_2A|not_specified0.570580.546890.588661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9086724641215960476TG657347Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9096715971215968078AG657348Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9101378961216143948TC141599Benignnot_specified0.10334.0.078470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
911485621216172380AG57724BenignUsher_syndrome,_type_2A|not_specified0.480930.556690.593451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9121678151216219781AG172908BenignUsher_syndrome,_type_2A|not_specified0.700450.606930.595651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9131779921216348764CT172529Benignnot_specified0.606410.658010.662341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9146678941216390475CT657377Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
915484831216424303AG57645Benignnot_specified|not_provided0.012920.015810.007390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9162954611218519260AC279029BenignLoeys-Dietz_syndrome..0.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9172954761218519398GCAG280527Likely_benignLoeys-Dietz_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9182138361218578521GA209434Benign/Likely_benignConnective_tissue_disorder|Loeys-Dietz_syndrom...0.000690.00089.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9192955761220087703CT280820Likely_benignHypermanganesemia_with_dystonia_1..0.040931|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9202955781220088047CA280787BenignHypermanganesemia_with_dystonia_1..0.869810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9213805701220267581GT364655Benignnot_specified|not_provided0.014790.035150.028950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9223800231220269439AT364786Benignnot_specified|not_provided0.034540.080870.071290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9236806651220269800CT657384Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9246761401220275378GA657376Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9256806111220276333AG657379Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9266806721220287350CT657381Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9276806141220287461CT657385Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9286806731220288100GA657392Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9293800241220319007AG364901Benignnot_specified0.077890.10230.069090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9306806161220320541AG657393Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9312956351220324189AG280822Likely_benignMartsolf_syndrome|Warburg_micro_syndrome..0.06270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9321300801220330672CT135526Benign/Likely_benignMartsolf_syndrome|Warburg_micro_syndrome|not_s...0.06920.087630.06050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9331300791220331205CG135525Benign/Likely_benignMartsolf_syndrome|Warburg_micro_syndrome|not_s...0.06920.089450.06030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9346807341220383449CG657397Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9356739801220406291AG657395Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9362621311223178561AC249737Benignnot_specified0.534910.545330.4980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93766591223284599TC21698risk_factorLegionellosis.0.148720.140180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9384026441225230608CT389376Benignnot_specified0.824350.865910.701281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9394026451225266966CG389361Benignnot_specified0.826610.865440.702281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9404026461225268106CA389364Benignnot_specified0.03044.0.015970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9414026471225268343AG389366Benignnot_specified0.826760.865430.703281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9424026481225268346GA389396Benignnot_specified0.826760.86630.702681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9434026491225270409AT389369Benignnot_specified0.761720.801990.662141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9444026501225273248GT389401Benignnot_specified0.825130.866570.702081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9454026521225439988TC389377Benignnot_specified0.347350.32520.485020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9464026531225445652GT389378Benignnot_specified0.324350.32480.485020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9474026561225528183CA389404Benignnot_specified0.492550.493430.529751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9484026571225533684AG389385Benignnot_specified0.492340.506970.528951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9494026591225534219TC389383Benignnot_specified0.492760.493570.529151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9504026601225534348GA389387Benignnot_specified.0.512320.529151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9514026611225555512CT389391Benignnot_specified0.464080.428050.325081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9524026621225555602TG389393Benignnot_specified0.468460.433390.329471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9534026631225562385CT389386Benignnot_specified0.723390.74860.709671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9544026641225565015TC389408Benignnot_specified0.561760.557210.556311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9554026651225565073CT389410Benignnot_specified0.490150.500250.491811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9564026661225569241TG389388Benignnot_specified0.531980.548330.528361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9572959351225599035AG280960Conflicting_interpretations_of_pathogenicityGreenberg_dysplasia|not_provided0.000540.000180.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9582586191225607144CT249738BenignGreenberg_dysplasia|not_specified|not_provided0.703290.800920.712261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9592586171225609884AG249740BenignGreenberg_dysplasia|not_specified|not_provided0.65916.0.670931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9602586161225611661CT249741BenignGreenberg_dysplasia|not_specified|not_provided0.698990.711230.657151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9618108841225611845CT799185Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9622561841227069677TC249746Benign/Likely_benignEarly-Onset_Familial_Alzheimer_Disease|not_spe...0.79310.760350.735621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9632561801227069737CT249747Benign/Likely_benignAlzheimer_disease,_type_4|Early-Onset_Familial...0.489540.499480.443291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9642561811227071525CT249748Benign/Likely_benignAlzheimer_disease,_type_4|Early-Onset_Familial...0.490160.499070.443291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9652960011227083550CT281058Likely_benignEarly-Onset_Familial_Alzheimer_Disease|Dilated.....0.450881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9666832001227165484TC657414Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9676715301227170298AG657420Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9686715311227170543CG657424Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9696715321227170768TC657396Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9701282741227172290CT133723BenignCoenzyme_Q10_deficiency,_primary,_4|not_specif...0.37367.0.238620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9716760901227172903GA657418Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9725183131227172935CG508767Likely_benignCoenzyme_Q10_deficiency,_primary,_40.398590.363150.265180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9736832011227173892TA657421Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9742960241227174145TC279683BenignCoenzyme_Q10_deficiency,_primary,_4|Autosomal_...0.47570.415480.351640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9751282751227174210TC133724BenignCoenzyme_Q10_deficiency,_primary,_4|not_specif...0.442180.405360.31390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9762960381227174823AAT280934BenignAutosomal_recessive_cerebellar_ataxia|Coenzyme......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9772960401227174902GA281095BenignAutosomal_recessive_cerebellar_ataxia|Coenzyme.....0.352040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9782960451227175119GA281096Likely_benignAutosomal_recessive_cerebellar_ataxia|Coenzyme.....0.094450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9792960501227175245CCT281105BenignAutosomal_recessive_cerebellar_ataxia|Coenzyme......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9803688671227175253CT353096BenignAutosomal_recessive_cerebellar_ataxia|Coenzyme.....0.419130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9813800391228353651GC364874Benignnot_specified|not_provided.0.489050.356030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9826842121228362213CG657426Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9833799881228362682GA364698Benignnot_specified|not_provided0.256940.289430.156951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9847132651228451941CT718723Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9856765641229568231TG657430Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9867677601229663064GAGGAAG777079Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9872547251230841687TC249765BenignRenal_dysplasia|not_specified0.940870.944070.972641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
988180681230845794AG33107BenignHypertension,_essential,_susceptibility_to|Pre....0.548430.705071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9892960831230845977GA280975Likely_benignRenal_dysplasia0.109260.123010.101640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9902960901230849872CT281157BenignRenal_dysplasia|not_provided..0.710461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9912960921230849886TG280986Likely_benignRenal_dysplasia..0.175921/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9922960971230850083CT279450BenignRenal_dysplasia..0.18950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9932961081231377081CT279735BenignRhizomelic_chondrodysplasia_punctata|not_speci...0.55090.549010.581870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9946711641231396634TC657443Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9956711681231400905AG657355Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9962603631231401902GA249768BenignRhizomelic_chondrodysplasia_punctata|Rhizomeli...0.59480.567620.628590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9976711691231403265TC657404Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9986711881231403830CT657356Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9996711891231403966AG657452Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10006711901231406295TC657453Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10016711961231406961CT657358Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10026675991231410115TC657459Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10032961511231500238AG281187BenignFamilial_erythrocytosis..0.027360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1004983461231830295GA104239not_providednot_provided0.260030.292340.232230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10054029811234743237GA389397Benignnot_specified0.124170.109040.085260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10064029841234745009AG389426Benignnot_specified.0.636480.603830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10072963051235600741AG281239Likely_benignHypoparathyroidism_retardation_dysmorphism_syn...0.049440.022690.036140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10082626511235652513TC249770Benignnot_specified0.520910.583980.678710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10094030651235826382TAT389398Benign/Likely_benignChédiak-Higashi_syndrome|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10106843681235827641CT657363Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10116843671235856395AC657477Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10122549081235860340CT249775Benignnot_specified|not_provided0.582280.43660.399960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10136843631235872665TC657480Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10146843611235887276GT657482Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10156843601235896726CT657489Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10166720171235906983TC657493Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10172549351235922228TC249784Benignnot_specified0.318930.248950.230030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10182549311235922671TG249788Conflicting_interpretations_of_pathogenicityChédiak-Higashi_syndrome|not_specified|not_pro...0.004690.004280.003590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10196843521235933904CT657494Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10202549271235940450CT249791BenignChédiak-Higashi_syndrome|not_specified|not_pro...0.435410.348320.300920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10212549231235945294TC249795BenignChédiak-Higashi_syndrome|not_specified|not_pro...0.436110.350120.303510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10226843451235945502AG657454Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10232549121235972435TC249806BenignChédiak-Higashi_syndrome|not_specified|not_pro...0.436650.349920.302720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10242549101235972867TC249807BenignChédiak-Higashi_syndrome|not_specified|not_pro...0.436490.349990.303320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10256843391235976594CT657366Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10266843381235976651TC657368Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10272626001236557771GA249813Benignnot_specified|Hypohidrotic_Ectodermal_Dysplasi...0.73835.0.776760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10284396371236557928GA433521Benignnot_specified..0.772360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10292626021236645670CT249816Benign/Likely_benignnot_specified|Hypohidrotic_Ectodermal_Dysplasi...0.189680.202390.133190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10306719811236850256AG657372Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10316719821236881403CT657423Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10326719831236882110GA657435Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1033439371236882303TC53106Benignnot_specified|Cardiovascular_phenotype|not_pro...0.992230.997910.992611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10346784371236883161AG657436Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10356719841236883240TC657439Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1036439381236883421CT53107Benignnot_specified|not_provided0.937720.962380.920731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10376719851236883564GA657440Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10386720011236883686GT657442Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10396720021236890781AG657373Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10406710601236894647GA657467Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10416720031236897633AG657456Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10426720041236898035TC657468Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10431777991236899042GA172789Benignnot_specified|not_provided0.156620.166740.195890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10446720051236900018GA657513Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10456780911236902364CT657461Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10466710611236902560CT657476Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1047439501236902594CG53119Benign/Likely_benignHypertrophic_cardiomyopathy|Dilated_cardiomyop...0.77749.0.767570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10486710621236902865AC657522Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10496720061236902955TC657466Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10506724461236910863TC657470Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10516826681236911343CT657416Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10526720071236912219GT657527Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10536720081236912286GA657491Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10546826691236912839AG657488Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10556720091236914576CT657531Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10566720101236914610GC657501Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10576826711236915207GA657492Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10586826811236918005TC657547Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10596720111236923299AG657517Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10606826821236923390CA657499Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10616710631236924506AG657523Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1062439331236925844GA53102Benign/Likely_benignHypertrophic_cardiomyopathy|Dilated_cardiomyop...0.15570.168810.196090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10632965121236926030AG281366Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.349840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10642965171236926366CG280081Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.404550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10652965181236926445TC281561Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.557310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10662965201236926643GC281562Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.217451|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10672965211236926667AG279762Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.399160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10681382881237038161TC141991BenignDisorders_of_Intracellular_Cobalamin_Metabolis...0.266650.31840.232230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10691382891237048500AG141992BenignNeural_tube_defects,_folate-sensitive,_suscept...0.220360.209080.218250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10701382841237058828CT141987BenignDisorders_of_Intracellular_Cobalamin_Metabolis...0.54606.0.529150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10711382851237060433GT141988BenignDisorders_of_Intracellular_Cobalamin_Metabolis...0.713360.675590.75240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10722965861237060945CTC280140Conflicting_interpretations_of_pathogenicityMETHYLCOBALAMIN_DEFICIENCY,_cblG_TYPE|Disorder......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10732965871237061056AC279822BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.540140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10742965981237061849GA281447BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.246010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10752966101237062198AC279848BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.764581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10762966111237062305AG281657BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.764381|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10772966181237062628CT281662BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.203671|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10782966311237063335GC281701BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.732830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10792966351237063709TTA281703BenignDisorders_of_Intracellular_Cobalamin_Metabolism...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10802966371237063717AAGA280180BenignDisorders_of_Intracellular_Cobalamin_Metabolism...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10812966551237064626TG280196BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.539740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10822966681237065326CT281517BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.544730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10832966731237065583GT280208BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.764580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10846689121237433524CT657524Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10856720661237433625CT657528Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10866837441237434181GA657549Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10876837461237434251AT657437Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10886837511237493854CA657447Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10896710211237519137TA657533Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10906837541237550323AC657540Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091438171237551376TA52986Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.52728.0.556511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10926717451237580606GT657541Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10936717461237580612GC657557Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1094437491237619875ATA52918Benign/Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10956837671237654831GT657521Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10966691981237656018AC657496Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10976717481237693471TC657625Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10986733031237693479CT657564Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10996720711237693921AG657535Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11006708951237694039GA657627Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11016837761237711457AG657569Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11026717491237711644TC657532Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1103437631237711797AG52932Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.85111.0.830270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11046699021237713557AG657571Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11056717501237729774GA657572Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11062572071237730124AG249820Benignnot_specified|not_provided0.905520.957540.905550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11076717511237730169CT657534Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11086717521237732332CT657643Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11092572081237732395GA249821Benignnot_specified|not_provided0.59350.64430.492810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11106720721237753364AC657559Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11116720731237753390AG657550Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11126746561237753519TC657583Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11136692661237753542CT657646Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11146837781237753571GA657584Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11152572101237754340AG249823Benignnot_specified|not_provided0.386310.446710.337460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11166837811237754605GA657648Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11176715041237754963AG657553Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1118437821237755076AG52951Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.01610.018240.007190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11192572111237755188CT249824Benignnot_specified|not_provided0.389150.459790.335860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11202572121237755203TC249825Benignnot_specified|not_provided0.38190.431740.337460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11216712011237755348TC657555Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11226712021237755402TG657651Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11236720741237757027GA657656Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11246720751237765200GA657565Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11256712031237765470AT657562Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11266837821237774614CT657599Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11276717691237788844TC657598Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11286717701237788862TC657666Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11296720781237789317AG657603Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11306717711237791674CT657588Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11316717721237794603AG657607Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11326837841237795150GC657612Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11336717731237796759GC657626Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11342572141237796837GA249826Benignnot_specified|not_provided0.386790.363650.428510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11356712051237797082TG657616Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11366712061237797103CA657618Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11376717741237797973CT657681Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11386717751237797997AG657637Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11396717761237798450GA657621Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1140438191237801770TC52988Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.959210.988390.954871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11416837871237807069TC657630Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11426720951237813030CT657631Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11436717771237813126AG657605Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1144438271237814783CT52996Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.450730.519820.554910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11456712071237814898CA657613Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11466720961237817784AG657635Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11476720971237819014CG657619Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11486720981237819431CT657645Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11496720991237821109TA657657Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11506709461237823959CT657678Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11516710261237824332GA657663Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11526837881237830895GT657680Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11536712081237831103CA657664Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1154367501237841390AG45411Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.224870.253330.099241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11556721001237862436TC657629Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11566721011237862458AG657667Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11576837921237862587GA657668Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11586837941237863210GT657669Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1159438361237863718TG53005Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.97182.0.969251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11606717781237865203CT657711Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11616837891237875417CT657640Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1162436991237881770CT52868Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.961620.988590.960461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11636721021237886739CT657655Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1164437021237890437CT52871Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.960780.988530.960261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11651986681237893674CT195829Benignnot_specified0.985380.995390.985221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11666837971237896736GA657676Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11676837931237905342GA657712Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11686721031237924044TC657719Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11696692491237949020TTG657700Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1170934761237951451AG99381Benignnot_specified0.617640.5750.636581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11712572001237951482GA249835Benignnot_specified|not_provided0.356030.278810.297921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11726721611237954545GC657746Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11732572011237957146GA249836Benignnot_specified0.624190.713440.734030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1174437311237957161AG52900Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.651380.739890.757590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1175437321237957309AC52901Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopath...0.647840.727310.75080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11766696181237958925AATTTT657707Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11776780171237961712CCTATT657734Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11786838001237961740TC657745Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11796838021237961789TC657761Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11806692521237964934AG657762Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11816838041237995162TTTTGA657773Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11826721061237995671AG657743Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11832967891237996581GGA280387Uncertain_significanceArrhythmogenic_right_ventricular_cardiomyopath......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11842967991237996661CG281694Likely_benignArrhythmogenic_right_ventricular_cardiomyopath.....0.220451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11852968091237997087AG281876Likely_benignArrhythmogenic_right_ventricular_cardiomyopath.....0.246811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11866839081241671638CT657728Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11872600061243493907AT249851BenignRenal_dysplasia_and_retinal_aplasia|Bardet-Bie...0.268180.297560.271370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11882600081243507680CCA249853Benignnot_specified0.281750.26080.237820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11896776381243827863AG656829Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11902969311247581692TC280586BenignFamilial_amyloid_nephropathy_with_urticaria_AN.....0.99781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11911385281247587477GA142231BenignFamilial_amyloid_nephropathy_with_urticaria_AN...0.40597.0.387380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11924032431247587531AG389399Benignnot_specified0.918810.942590.919931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11932969561247612036GC280213BenignFamilial_amyloid_nephropathy_with_urticaria_AN.....0.653550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11942969601247612202TA281902BenignFamilial_amyloid_nephropathy_with_urticaria_AN.....0.131590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11957677751248343990TC696646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119633121521417244AG282528Likely_benignCongenital_hypothyroidism..0.632390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119725660721418192CG250164Benign/Likely_benignCongenital_hypothyroidism|Deficiency_of_iodide...0.3553.0.31170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119825660521481155GT250167Benign/Likely_benignCongenital_hypothyroidism|Deficiency_of_iodide...0.40690.457820.408150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119925660621481231GC250168BenignCongenital_hypothyroidism|Deficiency_of_iodide...0.781630.640040.710261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120025660821497803CT250170Benign/Likely_benignCongenital_hypothyroidism|Deficiency_of_iodide...0.350530.363040.359030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120125661021499899CT250173Benign/Likely_benignCongenital_hypothyroidism|Deficiency_of_iodide...0.41304.0.43890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120225661121499927AC250174Benign/Likely_benignCongenital_hypothyroidism|Deficiency_of_iodide...0.470320.427980.49840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120325661421520676TC250292BenignCongenital_hypothyroidism|Deficiency_of_iodide...0.613260.589820.663940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120433164421546327CG282293Likely_benignCongenital_hypothyroidism0.38152.0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120526022821647171TC250314Benignnot_specified|not_provided0.86344.0.907751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120626022421652660GA250318Benignnot_specified|not_provided0.25024.0.244811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120726022321652822TG250319Benignnot_specified|not_provided0.89915.0.93551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120826022021664654AG250345Benignnot_specified|not_provided0.713490.756010.81091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120968367423597974TC655445Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121066956323599539AG659171Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121168367223599700GT659096Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121268366823605468AG659172Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121367003423605528TG659098Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121467002823605538AC659196Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121533590523628383CA289245BenignDiamond-Blackfan_anemia|not_specified0.139420.120250.133390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121640255723653844TC389501Benignnot_specified.0.782660.75120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121740255623673648GA389503Benignnot_specified0.107950.127220.119210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1218330649210192851GGTT281475BenignMaturity_onset_diabetes_mellitus_in_young...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1219330669210194192TC281495BenignMaturity_onset_diabetes_mellitus_in_young..0.830871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1220330674210194487TC283502BenignMaturity_onset_diabetes_mellitus_in_young..0.587061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1221403386211333994TG389448Benignnot_specified0.230930.318160.301921|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1222403387211359120GT389439Benignnot_specified0.450540.498150.399760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1223403044211817812GC389455Benignnot_specified|not_provided.0.632260.486420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122496495211905876CT102389Benignnot_specified0.264650.297870.204671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1225683089211924950TC658057Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1226262586211932173GT250105Benignnot_specified|not_provided0.696220.559760.536941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1227683094211932335TC658186Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1228684303211945533CA658010Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1229262591211955322GC250108Benign/Likely_benignnot_specified|Acute_Recurrent_Myoglobinuria0.04536.0.044730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1230330929211965541AG284019BenignAcute_Recurrent_Myoglobinuria..0.694891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1231330932211965814CT283783Likely_benignAcute_Recurrent_Myoglobinuria..0.116410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1232330933211965998AGA283789Likely_benignAcute_Recurrent_Myoglobinuria..0.018970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1233330940211966317TC283806BenignAcute_Recurrent_Myoglobinuria..0.231230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1234330957211967219GT282373Uncertain_significanceAcute_Recurrent_Myoglobinuria..0.005790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1235333371220130145TG286855Benign/Likely_benignShort_Rib_Polydactyly_Syndrome|Cranioectoderma...0.09380.114810.142970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1236167846220131184CA178154BenignShort_Rib_Polydactyly_Syndrome|Cranioectoderma...0.964550.987950.964861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1237256877220135283TC250472BenignShort_Rib_Polydactyly_Syndrome|Cranioectoderma...0.42973.0.510781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1238333407220189015TC283829Benign/Likely_benignShort_Rib_Polydactyly_Syndrome|Multiple_Epiphy...0.065430.106510.118611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1239256876220189089CT250473Benignnot_specified0.568120.546810.62161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1240333410220192696GA284474BenignShort_Rib_Polydactyly_Syndrome|Multiple_Epiphy.....0.509191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1241258646220194036GC250475Benignnot_specified0.420460.515810.509391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1242195170220205680CT192331BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.429970.483710.524361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1243195169220205848GA192330BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.436880.475390.524761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1244128418221225281CT133867Benign/Likely_benignFamilial_hypercholesterolemia|Familial_hyperch...0.802970.705740.629591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1245128425221232195GA133874Benign/Likely_benignFamilial_hypercholesterolemia|Familial_hyperch...0.413890.389940.2511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1246128424221232803TGCA133873Benign/Likely_benignFamilial_hypercholesterolemia|Familial_hyperch...0.395970.389140.24921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247335352225383887GA289041Likely_benignProopiomelanocortin_deficiency|Monogenic_Non-S.....0.115621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1248706983225565907AG695137Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1249335372226413917CT289069BenignMitochondrial_trifunctional_protein_deficiency.....0.787541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1250676137226415429AG659109Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1251676135226416301AG659032Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1252676286226417829GA658940Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1253676133226420708TG659072Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1254681693226420809GC659036Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1255673764226424384GA659116Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1256681690226438276TC659121Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1257681680226460072CT659080Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1258335395226467666GA288705BenignMitochondrial_trifunctional_protein_deficiency.....0.457271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1259676138226476977AG659125Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126092600226477125GGACT98508BenignMitochondrial_trifunctional_protein_deficiency......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1261335410226512957GC289128BenignMitochondrial_trifunctional_protein_deficiency..0.711061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1262262566226647277TG250699Benignnot_specified0.78571.0.62341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1263402796226667130AG389516Benignnot_specified0.125250.184030.161140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1264262564226667615TC250700Benignnot_specified0.9980.999330.99921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1265262565226671544AG250701Benignnot_specified0.678460.715720.530351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1266402797226676322AG389508Benignnot_specified0.995310.998320.994411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1267683011226707593TA659141Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126821864226712561CT34716Benign/Likely_benignDeafness,_autosomal_recessive_9|not_specified|...0.083650.055460.055910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126921836226741961GA34688Benign/Likely_benignDeafness,_autosomal_recessive_9|not_specified|...0.367910.434980.269971|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1270402999226951449GA389500Benignnot_specified0.970270.989290.962661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1271335473227309659AC288764BenignFructosuria,_essential..0.546331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1272335500227322636TCAT285791Likely_benignFructosuria,_essential...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127395736227589810TC101633BenignLeukoencephalopathy_with_vanishing_white_matte...0.415890.39860.383390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127495738227592423CT101635BenignLeukoencephalopathy_with_vanishing_white_matte...0.415810.396190.37840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1275335549227600239GA285839Likely_benignRetinitis_Pigmentosa,_Dominant..0.352040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1276379412227667297AG366599Benignnot_specified0.479090.44030.454070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1277379411227676287AT366532Benignnot_specified0.375830.388570.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1278683620227684957TC659148Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1279379410227688601CT366610Benignnot_specified0.478930.418650.454070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1280683618227693485TC659095Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1281476042227693802GC451000Conflicting_interpretations_of_pathogenicitynot_specified|not_provided0.005230.007210.00280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1282667025229001691AG654284Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1283335573229284806AG286629BenignRetinitis_Pigmentosa,_Recessive..0.921531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1284335575229284981TC288858Likely_benignRetinitis_Pigmentosa,_Recessive..0.495411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1285335576229285065AG286632BenignRetinitis_Pigmentosa,_Recessive..0.81571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1286335578229285150TC289266BenignRetinitis_Pigmentosa,_Recessive..0.978441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1287335583229285210CT289296BenignRetinitis_Pigmentosa,_Recessive..0.509780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1288335584229285254CT288860Likely_benignRetinitis_Pigmentosa,_Recessive..0.069290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1289335590229285575CT285857BenignRetinitis_Pigmentosa,_Recessive..0.594050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1290335591229285631AG285858BenignRetinitis_Pigmentosa,_Recessive..0.594450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1291335592229285713CT288868BenignRetinitis_Pigmentosa,_Recessive..0.588060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1292335599229286072GA286655BenignRetinitis_Pigmentosa,_Recessive..0.580070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1293335601229286193TC285864BenignRetinitis_Pigmentosa,_Recessive..0.62380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1294335605229286364CT288870Likely_benignRetinitis_Pigmentosa,_Recessive..0.132990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1295335609229286509TC286672Likely_benignRetinitis_Pigmentosa,_Recessive..0.366610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1296335613229286670TC286673Likely_benignRetinitis_Pigmentosa,_Recessive..0.367010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1297335621229286905GT286682Likely_benignRetinitis_Pigmentosa,_Recessive..0.335060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1298335625229287192GA288899Likely_benignRetinitis_Pigmentosa,_Recessive..0.130590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1299335627229287227TAACAG289343Uncertain_significanceRetinitis_Pigmentosa,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1300335635229287708CT285893Likely_benignRetinitis_Pigmentosa,_Recessive0.284040.269430.327080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1301287770229294629CT272007Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.17530.170670.12480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1302287769229294754GC272006Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.175110.170450.1250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1303193145229295016AG190310Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.304680.269360.333870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1304335662229295676GA288932Likely_benignRetinitis_Pigmentosa,_Recessive0.304120.26830.331670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1305335672229296870CT285944Likely_benignRetinitis_Pigmentosa,_Recessive0.168150.165670.111220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1306335674229297068CT286730Likely_benignRetinitis_Pigmentosa,_Recessive0.173190.170880.116610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1307335677229415792GA289362BenignNeuroblastoma_Susceptibility..0.992811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1308133472229416572TC137211BenignHereditary_cancer-predisposing_syndrome|Neurob...0.990310.997160.992211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1309676841229419591GT659127Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1310676840229436633GT658978Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1311676839229437182TC659162Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1312259271229446202GA250717BenignNeuroblastoma_3|not_specified|Neuroblastoma_Su...0.266340.289560.176520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1313259268229455267AG250719BenignHereditary_cancer-predisposing_syndrome|Neurob...0.661390.61210.50/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1314676804229541104CT659063Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1315259266229543663TC250720BenignHereditary_cancer-predisposing_syndrome|Neurob...0.79094.0.776561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1316259274229940529AT250722BenignHereditary_cancer-predisposing_syndrome|Neurob...0.62702.0.589260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1317259269230143499GC250724BenignHereditary_cancer-predisposing_syndrome|Neurob...0.909290.894950.893771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1318335749231558115AAGA286785Likely_benignXanthinuria...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1319191300231570376TC189103BenignXanthinuria|Deficiency_of_xanthine_oxidase|Xan...0.751730.778460.777361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1320255969231571241GC250726BenignXanthinuria|not_specified0.742970.776120.768371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1321255968231571786AG250727BenignXanthinuria|not_specified0.772950.786350.799921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1322801659231572482TTG790228BenignXanthinuria_type_2...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132397419231749714CT103311Benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de.....0.166930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1324335803231749993TC286076Likely_benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de.....0.014580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1325335811231751042TA286098Likely_benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de.....0.014580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132697403231805675AG103295Benignnot_specified|not_provided0.701310.684410.642370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132797400231805706GC103292Benignnot_specified|not_provided0.724470.699910.652160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132897386231806031CG103278Benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de.....0.640380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1329671069232288478CA659068Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1330684075232340482CG659179Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1331684076232353188TC659185Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1332667494232370344CT659029Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1333335865232381110TG289568BenignSpastic_paraplegia,_autosomal_dominant..0.337860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1334335875232381715GC289215Likely_benignSpastic_paraplegia,_autosomal_dominant..0.00281/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1335335876232381727AAAGG286164BenignSpastic_paraplegia,_autosomal_dominant...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1336335878232381829GA286168BenignSpastic_paraplegia,_autosomal_dominant..0.480031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1337335879232381883GA286173Likely_benignSpastic_paraplegia,_autosomal_dominant..0.0030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1338783022232656153CT708246Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1339783023232689842CT708251Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1340783024232702561GA708252Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1341783116232774505CT708254Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1342783117232819010GA708255Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1343236028233682737GT237595associationLip_and_oral_cavity_carcinoma..0.643370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1344790641236704117CT708265Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1345335967239209047AG289323Likely_benignGingival_fibromatosis|Noonan_syndrome..0.74760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1346335973239209426AG286987Likely_benignGingival_fibromatosis|Noonan_syndrome..0.746610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1347335979239210398AT289331Likely_benignGingival_fibromatosis|Noonan_syndrome..0.899560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1348212289239210719TTTA207000Likely_benignGingival_fibromatosis|Noonan_syndrome|not_spec......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1349335987239211121TC289686Likely_benignGingival_fibromatosis|Noonan_syndrome..0.762180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1350212288239211358TAT207001Likely_benignGingival_fibromatosis|Noonan_syndrome|not_spec......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1351336010239212565TTTG287026Likely_benignGingival_fibromatosis|Noonan_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1352336011239212637TC289730Likely_benignGingival_fibromatosis|Noonan_syndrome..0.523360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1353561358239216697TAT552503Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1354561828239216773TC552504Benignnot_provided..0.744010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1355259848239224351GT250731Benignnot_specified0.9460.918820.900160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1356259847239224615GGT250733Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1357561381239224637GA552509Likely_benignnot_provided..0.006591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1358180170239233500GA178349BenignNoonan_syndrome..0.905150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135940708239233584CT49178BenignRasopathy|not_specified|not_provided0.000540.00067.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1360561380239234432GC552512Likely_benignnot_provided..0.006590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1361561827239249409CG552519Benignnot_provided..0.729830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1362561826239250673AG552527Benignnot_provided..0.729430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1363561825239262068CT552528Benignnot_provided..0.899560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1364561372239278066CT552534Benignnot_provided..0.894170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1365180179239281730GC178351BenignNoonan_syndrome|not_specified0.937350.901410.891370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1366561824239285551TAAACT552538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1367336080244101538CT286334BenignSitosterolemia|not_specified.0.673340.764981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1368336112244114074GA287094BenignLeigh_syndrome..0.600641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1369684334244116100CT659202Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1370671284244128912CT659221Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1371684327244139986GA659210Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1372671279244145799CT659128Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1373684311244190392CT659268Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1374336184244502788AC286471BenignCystinuria0.778870.732750.703471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1375167690245171842AG178072Benignnot_specified|not_provided0.936880.921450.93751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1376336258246603671CG287200BenignFamilial_erythrocytosis0.42911.0.31250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1377336293246612326GTTG286566BenignFamilial_erythrocytosis...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1378528477247233120CT518362Likely_benignnot_provided0.00038..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1379678452247390026CT659070Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1380683290247390058TC659303Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1381676950247643191CG659157Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138236564247656801GA45226BenignLynch_syndrome..0.593650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138390598247663845GA96073BenignLynch_syndrome..0.599240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138490607247666838TC96082BenignLynch_syndrome..0.082470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138590609247671742AC96084BenignLynch_syndrome..0.601240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138690599247672569GA96074BenignLynch_syndrome|not_provided..0.794731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138790687247692281CT96162BenignLynch_syndrome..0.556710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138890846247703241AG96321BenignLynch_syndrome..0.551920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1389676471247703379CT659239Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1390676957247703885GA659163Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139190924247704027GC96399BenignLynch_syndrome..0.962461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139241867247739551AG50306Benignnot_specified|not_provided0.429190.457950.527951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139336581248010488GA45243BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.17965.0.200880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139489294248012846CT94768BenignLynch_syndrome..0.294330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139589521248019485TC94995BenignLynch_syndrome..0.169530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1396676475248022900AG659241Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139789532248022981GT95006BenignLynch_syndrome0.22616.0.224440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139889544248024876CT95018BenignLynch_syndrome..0.737821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139989345248030458GC94819BenignLynch_syndrome|not_specified..0.822481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140042471248030838AT51641BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.314620.404260.400960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140189410248032312GA94884BenignLynch_syndrome..0.672321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1402595919248032613GA586980Benignnot_specified..0.769571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140389429248032874ACTATA94903BenignLynch_syndrome|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140489432248032937TC94906BenignLynch_syndrome|not_specified..0.81431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140536594248033551CG45256BenignLynch_syndrome|Hereditary_nonpolyposis_colorec...0.787220.742650.809111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1406336454248914615CG286696BenignHypergonadotropic_hypogonadism|Leydig_cell_age.....0.162740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1407255607248915871AG250744BenignHypergonadotropic_hypogonadism|Leydig_cell_age...0.496690.602630.592250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1408255609248921375TC250745BenignHypergonadotropic_hypogonadism|Leydig_cell_age...0.491220.637620.591050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1409255608248925746CT250746BenignHypergonadotropic_hypogonadism|Leydig_cell_age...0.852380.765650.737421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1410137403249381585CT141106BenignOvarian_hyperstimulation_syndrome|Ovarian_dysg...0.259110.316020.345050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1411336515250147171CA290280BenignPitt-Hopkins-like_syndrome..0.227241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1412336528250148111AAAAGT289874BenignPitt-Hopkins-like_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1413667709250149510AG659168Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1414675103250170729GC659254Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1415801713250201110AG790282BenignPitt-Hopkins-like_syndrome_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1416667731250463700GA659349Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1417667707250463701AG659112Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1418667711250692459TA659118Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1419667708250699205CA659183Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1420667706250699305TA659189Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1421667704250699758CT659194Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1422667536250699890TC659273Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1423667703250733958TC659285Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1424667702250766007TA659287Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1425670683250780219TG659288Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1426667697250780392GA659135Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1427668651250848056GGC659149Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1428667699251148872TA659203Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1429674918251254538CG659212Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
143093603251254901GA99507BenignHistory_of_neurodevelopmental_disorder|Pitt-Ho...0.174020.130580.213060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1431683578255870827AG659152Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1432138739255872538TC142442Benignnot_specified|not_provided0.157110.082820.147560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1433138738255873385CG142441Benignnot_specified|not_provided0.203210.129790.198480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1434683569255874811CT659161Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1435671592255881816CT659375Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1436671591255883713CA659246Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1437671588255889062GA659301Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1438671576255889454GA659252Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1439669542255889466GA659169Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1440683568255894428GA659302Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1441683567255895321TC659253Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1442683564255898929AG659395Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1443671587255899228AT659404Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1444516898255900231GGA500091Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1445683552255910710TC659262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1446671575255913271ATA659184Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1447257227256098272GA250749BenignDoyne_honeycomb_retinal_dystrophy|not_specified0.053670.053390.037740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1448257495258388696AG250750BenignFanconi_anemia|not_specified|not_provided0.704090.648660.706470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1449336653258388708CT287621Conflicting_interpretations_of_pathogenicityFanconi_anemia|not_provided.4e-05.1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1450257494258431410GC250751Benignnot_specified0.147240.126040.176720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1451127265260720246CT132722BenignFetal_hemoglobin_quantitative_trait_locus_5|In.....0.483230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1452336670261275771CG287662Conflicting_interpretations_of_pathogenicityPeroxisome_biogenesis_disorder_11A|Peroxisome_...0.027450.024070.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1453336677261276263GA287682BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.995211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1454336685261276857CT290432BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.303910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1455336687261277099GA286893Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.076280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1456336699261278052AG290089BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.616010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1457336715262052380AG290453Likely_benignRetinitis_Pigmentosa,_Recessive.0.397340.476440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1458336727262053290AG290460Likely_benignRetinitis_Pigmentosa,_Recessive.0.399680.476040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
145996217262066927AG102111BenignRetinitis_pigmentosa_28|not_specified|Retiniti...0.979830.975890.979631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1460336744262069358TC287722Likely_benignRetinitis_Pigmentosa,_Recessive0.168080.182920.160140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1461193466262081012AC190630Benignnot_specified0.979710.975940.979431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1462336747262081217AG290124BenignRetinitis_Pigmentosa,_Recessive0.981490.97460.979431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1463336760263380675CA290503Uncertain_significanceBardet-Biedl_syndrome0.000170.00015.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
146495744263486429CT101641BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.62290.605280.763781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1465193387263815393AG190551Uncertain_significancenot_provided.0.00039.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1466156571268445313ATTAATA166380not_providednot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1467336784269547236GC290135BenignCongenital_Myasthenic_Syndrome,_Recessive..0.655351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1468336790269547919CCA286996Uncertain_significanceCongenital_Myasthenic_Syndrome,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1469336797269548320CT290546BenignCongenital_Myasthenic_Syndrome,_Recessive..0.658751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1470336799269548495TG287017Likely_benignCongenital_Myasthenic_Syndrome,_Recessive..0.104430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1471336801269548591CT290139BenignCongenital_Myasthenic_Syndrome,_Recessive..0.638581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1472336807269549262TC287799BenignCongenital_Myasthenic_Syndrome,_Recessive..0.647561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1473336818269550036TC290161BenignCongenital_Myasthenic_Syndrome,_Recessive..0.658751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1474336821269550230TG290554BenignCongenital_Myasthenic_Syndrome,_Recessive..0.647561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1475336823269550256CT290555BenignCongenital_Myasthenic_Syndrome,_Recessive..0.663541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1476336829269550652GA290560BenignCongenital_Myasthenic_Syndrome,_Recessive..0.638381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1477336839269551011TC290180BenignCongenital_Myasthenic_Syndrome,_Recessive..0.638381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1478336840269551052TC290192BenignCongenital_Myasthenic_Syndrome,_Recessive..0.649361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1479336859269552521CA287821BenignCongenital_Myasthenic_Syndrome,_Recessive..0.638181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1480336873269553375GAG290634Uncertain_significanceCongenital_Myasthenic_Syndrome,_Recessive...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1481673466269556144AC659425Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1482681723269565345TC659186Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1483257667269565563TAT250761Benign/Likely_benignnot_specified|Congenital_Myasthenic_Syndrome,_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1484129151269573029TC134597Benignnot_specified|Congenital_Myasthenic_Syndrome,_...0.67541.0.647171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1485681308269573273TC659431Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1486681306269583422GA659190Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1487681305269583896AG659281Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1488682687269585176AG659283Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1489681304269586293AC659432Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1490258543269586370AG250762Benignnot_specified|not_provided0.30986.0.244010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1491672059269601502GA659331Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1492682685269613926TC659197Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1493681303269613958AG659347Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1494258544269614161AG250765Benignnot_specified|not_provided0.691970.609250.656551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1495671562269627919GA659200Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1496683210269633382AT659216Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1497683209269642615GA659307Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1498683208269646504GA659223Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1499669524269646950CT659308Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1500673395269650445TA659229Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1501669523269650527CT659238Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1502138516269659126AT142219BenignMultiple_mitochondrial_dysfunctions_syndrome|n...0.377210.392840.317090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1503669522269659402TA659354Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1504672905269664921AT659445Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1505669521269664976CT659244Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1506336905271004492TCACCT287838Uncertain_significancePremature_ovarian_failure...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1507336907271012604GA287106BenignPremature_ovarian_failure0.675010.647930.797720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1508336909271012734CG290660BenignPremature_ovarian_failure0.626690.623140.762980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1509369346271162996AG353575BenignRenal_tubular_acidosis_with_progressive_nerve_.....0.530351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
151044228271163086TC53395BenignRenal_tubular_acidosis_with_progressive_nerve_...0.415040.409490.368810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
151144231271163173CT53398BenignRenal_tubular_acidosis_with_progressive_nerve_...0.158540.180180.158550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
151244222271190384CT53389BenignRenal_tubular_acidosis_with_progressive_nerve_...0.35830.469020.43750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1513138182271351487GA141885BenignMethylmalonic_acidemia|not_specified0.273640.305640.182510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1514668890271730055GA659459Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1515677301271743562GT659475Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1516668122271743640TC659332Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1517679370271747235AG659484Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1518679411271747432GT659333Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1519679412271747568GT659385Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1520679413271747723CG659260Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1521679414271747851TC659264Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
152294368271747899GA100268Benignnot_specified0.496080.475540.367811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1523259065271755380AG250776Benignnot_specified|not_provided0.846690.746580.656351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
152494268271762232CT100168Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.628940.584560.457671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1525679416271762310AG659271Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1526679418271766487GA659391Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1527679421271779032GA659512Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1528668124271779853TC659346Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
152994281271780215TC100181Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.734890.643020.575481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1530679422271780821TC659517Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1531668895271782764CG659300Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
153294290271795152AT100190Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.716210.604160.550521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1533679423271796865CG659352Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1534679425271797176AC659361Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1535681362271801267GC659522Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1536679986271816602GC659309Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1537679987271817003AG659529Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1538668126271825438GC659402Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1539679992271826102CT659382Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1540668898271827555CT659403Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1541679993271828423AT659389Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1542679994271829821GT659393Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
154394316271838597CA100216Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.471550.501460.449481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1544679995271847943CA659396Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1545679996271871039AG659415Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1546259080271871236AG250790Benignnot_specified|not_provided0.889670.859370.838261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1547668127271889101AG659320Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1548668128271889156CG659420Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1549679998271891236CT659426Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1550259081271891361CT250791Benignnot_specified|not_provided0.811630.820180.744811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1551680001271897075AG659428Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1552259082271901286CT250792Benignnot_specified|not_provided0.780030.806850.728041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
155394346271906171TC100246Benignnot_specified0.923040.885080.87821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1554680008271907930GT659435Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1555383755273613341GA367793Benignnot_specified0.227.0.25120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1556383767273650122TA366927Benignnot_specified0.502780.603310.532750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1557383753273651967CT367798Benignnot_specified|not_provided0.39451.0.363620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1558504918273675669TG496235Benignnot_specified|not_provided0.880570.862730.87221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1559383768273675844CT366940BenignAlstrom_syndrome|not_specified|not_provided0.494810.599090.526360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1560383757273677833AG366999Benignnot_specified|not_provided0.371940.260880.338260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1561379229273677898GC366959Benignnot_specified|not_provided0.394570.268130.363620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1562383758273679280AG366730Benignnot_specified|not_provided0.391250.267590.358830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1563383769273679866TC367864Benignnot_specified|not_provided0.140380.143220.103630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1564383759273679990TA367014Benignnot_specified|not_provided0.395360.26990.363820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1565383760273680508GC367891BenignAlstrom_syndrome|not_specified|not_provided0.39545.0.364420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1566383761273717567GT366982Benignnot_specified|not_provided0.390.266280.358230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1567383762273717656AG366756Benignnot_specified|not_provided0.391360.266130.358230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1568683047273746643TC659450Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1569383763273746923CT366758Benignnot_specified|not_provided0.303750.216910.256790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1570677826273761881GA659586Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1571677827273762236AG659590Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1572669780273762385GA659453Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1573393379273777400AG380199BenignMonogenic_diabetes|not_specified|not_provided0.003150.005970.007190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1574383770273828310TC367006Benignnot_specified0.515010.624430.552920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1575383764273828538GA367925Benignnot_specified|not_provided0.536610.633380.582270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1576383765273829372CT367049Benignnot_specified|not_provided0.393590.263580.341650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1577677830273829678CT659337Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1578337039273837006TA287232Likely_benignAlstrom_syndrome..0.105230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1579160040274087290TC168077Likely_benignnot_specified0.229130.177610.158551|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1580160041274087298AG168078Likely_benignnot_specified0.083270.088370.159550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1581679277274165856GA659468Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1582679278274173656AC659351Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1583679279274178080TC659474Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1584683414274369151AT659357Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1585683413274371995GA659479Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1586683410274372678AC659486Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1587683407274374641CT659365Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
158895359274692191CT101258Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.04160.056420.017370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1589337133274758151TC290711Uncertain_significanceParkinson_Disease,_Dominant.1e-05.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1590337149284650707AG290971BenignMitochondrial_DNA_depletion_syndrome|Mitochond.....0.802121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1591684111284660240GA659367Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1592684110284667864CT659624Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1593684109284677140AG659503Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1594669574284686757AG659373Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1595402731284756049GA389523Benignnot_specified0.923570.948750.944691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1596402732284771480GA389519Benignnot_specified0.911260.943930.929511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1597402733284771567CT389526Benignnot_specified0.809290.883620.816691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1598402734284800605CA389530Benignnot_specified0.908810.946550.929711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1599402738284880445GC389544Benignnot_specified0.115690.162960.099240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1600402740284897517AG389532Benignnot_specified0.962520.973270.982231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1601402742284924823TC389535Benignnot_specified0.153960.147710.116810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1602402745285023554AG389533Benignnot_specified0.215290.187160.212060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1603402746285024731CT389548Benignnot_specified0.118920.1140.104230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1604508141285617327CT499965Benignnot_specified0.060660.048740.042730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1605508142285617579CT500383Benignnot_specified0.060660.0490.042730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1606674848285766545CT659381Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1607674698285769246GA659638Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1608381190285769711CG367044Benignnot_specified0.533060.45290.492811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1609674849285769975AG659516Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1610337176285772478CT288088Uncertain_significanceVitamin_K-Dependent_Clotting_Factors..0.010780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1611337179285772548CT287342BenignVitamin_K-Dependent_Clotting_Factors..0.493611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1612337185285773061AG291027BenignVitamin_K-Dependent_Clotting_Factors..0.530151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1613337190285773252TC290804BenignVitamin_K-Dependent_Clotting_Factors..0.107630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1614337198285773539TTAA287354Uncertain_significanceVitamin_K-Dependent_Clotting_Factors...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1615337203285773654CCTG290806BenignVitamin_K-Dependent_Clotting_Factors..0.510181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1616337204285773659AG288100BenignVitamin_K-Dependent_Clotting_Factors..0.285940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1617337217285774676GA288159BenignVitamin_K-Dependent_Clotting_Factors..0.493611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1618337238285776276TG291057Uncertain_significanceVitamin_K-Dependent_Clotting_Factors..0.007590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1619337243285776490CCTTTA291059BenignVitamin_K-Dependent_Clotting_Factors...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1620337266285780131GA291091BenignVitamin_K-Dependent_Clotting_Factors0.302550.266060.285940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1621337268285780536CT291110BenignVitamin_K-Dependent_Clotting_Factors0.419190.319790.37780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1622337275285786074GA290862Likely_benignVitamin_K-Dependent_Clotting_Factors0.050050.031490.039940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1623263205285890771TG250817Benignnot_specified0.93620.936520.974841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1624165204285893741GA173673Benignnot_specified|Pulmonary_Surfactant_Metabolism_...0.598880.503720.519971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1625165206285894308GT173674Benignnot_specified|Pulmonary_Surfactant_Metabolism_...0.282870.35530.296930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1626165208285895338TG173675Benignnot_specified|Pulmonary_Surfactant_Metabolism_...0.35110.425430.418530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1627130382286088311TC135829BenignSalt_and_pepper_developmental_regression_syndr...0.156770.222510.209071|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1628337344286441303AC288254BenignSpastic_paraplegia,_autosomal_dominant..0.37360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1629337345286441334CCTGTT287482BenignSpastic_paraplegia,_autosomal_dominant..0.3730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1630669113286478869AC659639Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1631130108286481835CT135554BenignSpastic_paraplegia_31,_autosomal_dominant|not_...0.371830.467340.428710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1632669110286509079TC659438Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1633128986288874891CA134433BenignWolcott-Rallison_dysplasia|not_specified0.801710.702060.720650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1634128984288882942TA134431BenignWolcott-Rallison_dysplasia|not_specified0.239420.254150.204270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1635128988288895123TC134435BenignWolcott-Rallison_dysplasia|not_specified0.734740.637920.648960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1636128987288913273GC134434BenignWolcott-Rallison_dysplasia|not_specified0.198370.298280.280550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1637337424288926964GA291074Likely_benignWolcott-Rallison_dysplasia..0.015770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1638337440289050126TG288313BenignDeficiency_of_ribose-5-phosphate_isomerase..0.18950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1639337472296917588TG291107BenignPheochromocytoma..0.616410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1640677140296931846TC659408Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1641337536296944553GA291176Likely_benignRetinitis_Pigmentosa,_Dominant0.251960.309710.246010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1642337548296952833AG291356Likely_benignRetinitis_Pigmentosa,_Dominant0.235660.319010.284140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1643337642298356250GC291334BenignSevere_Combined_Immune_Deficiency..0.148760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1644483272105979730CA57489Benignnot_specified0.3117.0.277360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16452614282108608648AG250078Benignnot_specified0.063510.084160.076080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16462614292108618514CT250079Benignnot_specified0.12510.11280.144170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16473800292109374952AG365325Benignnot_specified|not_provided0.308290.2604.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16483306832109510937GA283642BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant..0.531751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16493306882109511765AG283656BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant..0.669931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16503306942109512234TC283660BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant..0.720851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16511558622109513321CA165611BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant|no...0.858970.906650.882991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16521558652109513654GA165614Benignnot_specified|Hypohidrotic_Ectodermal_Dysplasi...0.699290.810270.711861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16531558642109522720GA165613Uncertain_significancenot_provided0.682760.795030.674321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16541558702109526969GA165619Benignnot_specified|Hypohidrotic_Ectodermal_Dysplasi...0.896280.916970.921331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16551558692109527087GA165618Uncertain_significancenot_provided..0.665541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16561558672109527373AG165616Uncertain_significancenot_provided0.905580.919010.927521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16572557052110919321CT250088Benignnot_specified0.280990.361330.3781|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1658927192110922703CT98626BenignNephronophthisis|Joubert_syndrome|Renal_dyspla...0.378830.379310.474440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16593307462112705157TC283717Likely_benignRetinitis_Pigmentosa,_Recessive0.584650.584460.514780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16603307542112751928GA281580Likely_benignRetinitis_Pigmentosa,_Recessive0.634020.597170.56150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16613307592112755001AG282252Likely_benignRetinitis_Pigmentosa,_Recessive0.633940.597320.56150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16623307622112765973AG281586Likely_benignRetinitis_Pigmentosa,_Recessive0.587810.582450.515180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16633307662112776979CA282254Likely_benignRetinitis_Pigmentosa,_Recessive0.29994.0.296930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16643307702112786523AAT283784Likely_benignRetinitis_Pigmentosa,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16657701302113258916CT696975Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1666146712113594387GA29710risk_factorGastric_cancer_susceptibility_after_h._pylori_.....0.472441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16677678162113671410AG696980Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16683307832113820476TC283604BenignPustular_psoriasis,_generalized..0.715260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16693307842113820530AG283793BenignPustular_psoriasis,_generalized..0.715460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16703307872113820580CA283612BenignPustular_psoriasis,_generalized..0.715460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16713307892113820655AT282259BenignPustular_psoriasis,_generalized..0.715060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16723307902113820672AG283794BenignPustular_psoriasis,_generalized..0.715060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16733307912113820732TC282260BenignPustular_psoriasis,_generalized..0.715260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16743307922113820814CG283621BenignPustular_psoriasis,_generalized..0.715260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16753307962113821117CT283623BenignPustular_psoriasis,_generalized..0.869811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16763307982113821200TC281597BenignPustular_psoriasis,_generalized..0.715260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16773308022113821653TC281598BenignPustular_psoriasis,_generalized..0.715260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16785377172113887483CT516358Benignnot_provided..0.254590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16793308272113890304TC283875BenignOsteomyelitis,_sterile_multifocal,_with_perios...0.33315.0.350040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16803308322113890586CG281620BenignOsteomyelitis,_sterile_multifocal,_with_perios.....0.355030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16813308532113973632GA281649Likely_benignCongenital_hypothyroidism..0.455670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16823308582113973801TC281655BenignCongenital_hypothyroidism..0.794331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16833308612113973964TC283928Likely_benignCongenital_hypothyroidism..0.454270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16843308642113974196GC282309Likely_benignCongenital_hypothyroidism..0.324880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16853308822113975923TC283980Uncertain_significanceCongenital_hypothyroidism..0.027160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16867678192120194651AAGTGTGC696990Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16878017432121684663CG790036BenignHoloprosencephaly_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16884397582121709091GA433591Benignnot_specified..0.93871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16892597312121713022CG250113Benignnot_specified..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16902597322121713030GA250114Benignnot_specified0.754130.923420.785941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16912597332121713041TC250115Benignnot_specified0.755770.920230.785941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16922597362121726447GA250118BenignHoloprosencephaly_sequence|not_specified0.809240.940070.827281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16932597092121729490CT250121Benignnot_specified0.869450.95580.87661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16942597102121729686TC250122Benignnot_specified0.869750.957220.8771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16952597162121740493GA250127Likely_benignnot_specified0.01238.0.005391/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16962597172121740505CT250128Benignnot_specified0.77180.907750.779751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16972597252121744225AG250136Benignnot_specified0.629810.640990.519571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1698952712121746956GT101170BenignHoloprosencephaly_sequence|not_specified0.623410.62960.508991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1699952722121747406GA101171BenignHoloprosencephaly_sequence|not_specified0.676870.646350.567091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1700952732121747429AG101172BenignHoloprosencephaly_sequence|not_specified0.624080.634380.512381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17013310062121749067GC282392BenignHoloprosencephaly_sequence..0.507791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17026782692127808226AT658064Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17036782682127808532GA658033Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17046782672127808909GA658044Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17056688772127810697CT658180Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17066782662127811042GA658049Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17076782522127811712GGCA658051Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17086782512127818021CT658090Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17091580192127819777CT167866Benign/Likely_benignAutosomal_recessive_centronuclear_myopathy|not...0.105510.1580.097240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17106782502127821085CT658219Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17116782492127821453GA658105Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17121580172127821499TC167864Benign/Likely_benignAutosomal_recessive_centronuclear_myopathy|not...0.287180.370370.345250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17136782482127821839GC658221Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17146782472127825968GA658224Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17156782462127826259AG658056Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17166781282127826632AG658106Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17176781272127833963CT658110Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17186781262127834136TC658058Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17196800922127834369CT658230Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17206781252127834384TC658231Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17216781242127834459TC658067Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17226781232127834528CT658233Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17236680232127834580GC658202Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17242558082128176040AT250153Benign/Likely_benignThrombophilia,_hereditary,_due_to_protein_C_de....0.451370.393171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17252558092128180872GT250154Benign/Likely_benignThrombophilia,_hereditary,_due_to_protein_C_de...0.722310.63430.645770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17262558102128184770TC250155Benign/Likely_benignThrombophilia,_hereditary,_due_to_protein_C_de...0.324080.282780.229830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17272609872128400608CT250158Benignnot_specified0.50640.603440.545130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17284755442128415109GA448571Benignnot_provided0.00161.0.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17291300642135893372AG135510BenignWarburg_micro_syndrome_1|Warburg_micro_syndrom...0.11241.0.214460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17301300672135911422TC135513BenignWarburg_micro_syndrome_1|Warburg_micro_syndrom...0.49070.517360.786740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17313311542136545448AACA281844Likely_benignLactose_intolerance|Congenital_lactase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17323311592136545844CG281846BenignLactose_intolerance|Congenital_lactase_deficiency0.787870.79670.739620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17333311642136546110AG284145BenignLactose_intolerance|Congenital_lactase_deficiency0.630480.621460.441490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17343311682136555659TC282507BenignLactose_intolerance|Congenital_lactase_deficiency0.617720.605810.442690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17353311722136561557GA281859BenignLactose_intolerance|Congenital_lactase_deficiency0.69560.75320.660140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17363312012136575157CT281883Uncertain_significanceLactose_intolerance|Congenital_lactase_deficiency0.000690.000630.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17373312022136575199GT284166BenignLactose_intolerance|Congenital_lactase_deficiency0.541140.555880.356030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17383312042136575534TC282521BenignLactose_intolerance|Congenital_lactase_deficiency0.97840.994350.979231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17393312072136590746CT281884BenignLactose_intolerance|Congenital_lactase_deficiency0.27026.0.355030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17403312102136594158GA281889BenignLactose_intolerance|Congenital_lactase_deficiency0.542290.548730.348441|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
174176852136608646GA22724associationLactase_persistence..0.161340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
174276862136616754CT22725associationLactase_persistence..0.163340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17433312722145145034AG284502BenignMowat-Wilson_syndrome..0.995811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17446703422145155731TC658232Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17456723682145161902AG658234Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17466703412145161936TG658237Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17471594832148716428TC168039BenignMeier-Gorlin_syndrome_2|not_specified0.31145.0.355830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17486831312149216661AG658139Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17493313502149270710AG284330Likely_benignIntellectual_Disability,_Dominant..0.449080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17506828972149835264GA658120Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17516693912149855325AG658152Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17526700172149857599TC658268Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17536839762149862261AG658134Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17543313732150426362TC282037BenignMethylmalonic_acidemia|Disorders_of_Intracellu.....0.553121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17553313742150426399AG282047BenignMethylmalonic_acidemia|Disorders_of_Intracellu.....0.996011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17562858472150432256AG270084Conflicting_interpretations_of_pathogenicityMethylmalonic_acidemia|Disorders_of_Intracellu...0.000920.002070.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17572606782150432377CG250172Likely_benignnot_specified0.622580.753970.62161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17586826222150432690TA658271Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17592038362150432976CT199984BenignMethylmalonic_acidemia|Methylmalonic_acidemia_...0.773950.868070.759591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1760951262152346979TC101026Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.418790.413580.334270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17612578042152348842TA250179Benignnot_specified0.26530.299290.201680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1762951222152349026GA101022Benignnot_specified|not_provided0.641850.662380.638381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1763951202152352843CG101020Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.62880.649940.62780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17642577922152374800GA250189Benignnot_specified0.592390.589540.535940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1765951162152382454CG101016Benignnot_specified|not_provided0.59528.0.545730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1766951142152387553TC101014Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.553870.583010.491610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1767951122152388415ATA101012Benignnot_specified|Nemaline_Myopathy,_Recessive|not......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17682577862152394534TG250194Benignnot_specified0.55980.58370.49880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17692577832152404294CT250198Benignnot_specified0.620390.640220.6240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1770951092152422076CG101009Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.649770.67070.653160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17713314632152424933TTA284405BenignNemaline_myopathy_2|Nemaline_Myopathy,_Recessi......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17722577662152435840CG250212Benignnot_specified.00.307510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17732577202152475938TG250255Benignnot_specified0.31596.0.24880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1774951022152476028CG101002BenignNemaline_myopathy_2|not_specified|Nemaline_Myo...0.268740.289110.219850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17752268482152490219AG228541Benignnot_specified|not_provided0.59877.0.6260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17762268472152490458AG228542Benignnot_specified|not_provided0.975690.992820.972051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1777951312152527572CT101031Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.661460.738560.533151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17781673362152531077AG177860Benignnot_specified0.817780.826490.716051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1779951282152536498TA101028Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.698570.749940.583471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17802577672152552062AC250296Benignnot_specified0.62921.0.49881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17812578322152573902AAGGC250301Benignnot_specified.0.745420.569291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1782951362152573981AG101036BenignNemaline_myopathy_2|not_specified|Nemaline_Myo...0.686110.743750.569291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17833315582152690248GA282210BenignEpisodic_ataxia|Juvenile_myoclonic_epilepsy..0.87841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17843315742152691829CG284875BenignEpisodic_ataxia|Juvenile_myoclonic_epilepsy..0.460260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17853316102152694448AG282946BenignEpisodic_ataxia|Juvenile_myoclonic_epilepsy..0.105430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17863316142152694743CG284493BenignEpisodic_ataxia|Juvenile_myoclonic_epilepsy..0.039140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17873316192152695008ATA282291BenignEpisodic_ataxia|Juvenile_myoclonic_epilepsy...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17883316242152695178GTG282984Uncertain_significanceEpisodic_ataxia|Juvenile_myoclonic_epilepsy...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17893316532157181836CTGC284954BenignParkinson_Disease,_Dominant/Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17903316552157181925AC283004BenignParkinson_Disease,_Dominant/Recessive..0.286340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17913316852158593905CT282340BenignProgressive_myositis_ossificans..0.082070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17922574662158626980CT250303BenignProgressive_myositis_ossificans|not_specified0.91150.964190.913941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17932574642158636910GA250304BenignProgressive_myositis_ossificans|not_specified0.604720.750170.650961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17942184752160958349GAG215223Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17955877872162280748GA578942BenignHistory_of_neurodevelopmental_disorder0.786460.823050.758591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17962615662163124051CT250306Benignnot_specified0.46140.504710.356631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17972615652163128824TC250307BenignSingleton-Merten_syndrome_1|not_specified0.69160.676220.589861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17981676502165987772TG178049Benignnot_specified0.16292.0.181710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17995865012165996107TA576575Benignnot_provided0.502920.506760.634580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1800954452166003479GA101344Benignnot_specified0.225280.221480.257390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18016842372166164887GA658142Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18026693592166166672CT658184Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18036708432166170073AG658190Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18041302162166170127TC135663BenignBenign_familial_neonatal-infantile_seizures|Hi...0.828690.801650.772361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18056842382166179357CA658151Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18062614002166179650CT250321Benignnot_specified0.596250.52050.50281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18076842392166180347TA658197Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18086693202166183214GT658154Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18096842402166187534TC658157Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18106693222166187635TG658329Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18116842412166199284TA658332Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18126693282166224047GA658225Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18136693292166224105AC658228Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18146842432166224175GC658279Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18156842472166226358GC658175Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18166693302166226978AG658290Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18176842492166227107AG658245Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18186842502166229396AG658336Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18196693602166229509CT658250Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18206706212166229930TA658177Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18216693612166231634AG658182Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18226693322166236870TGT658312Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18236687232166238034TC658317Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18243317562166248047GA283078BenignBenign_familial_neonatal-infantile_seizures|Ea.....0.383390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18253317782166605010AT282414BenignTumoral_calcinosis,_hyperphosphatemic,_familial..0.325281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18263318012166730387TC282447Likely_benignJoubert_syndrome|Jeune_thoracic_dystrophy..0.091051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18276719292166747785AG658189Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18286675772166768263TC658195Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18291306522166770120AG136098BenignJoubert_syndrome|Jeune_thoracic_dystrophy|not_...0.347530.330230.277361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18306675762166771381TC658198Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18316749662166771663CT658201Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18321306502166773971GA136096BenignJoubert_syndrome|Jeune_thoracic_dystrophy|not_...0.361270.333120.291731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18336749652166781242TTA658263Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18346708242166786530AATTTTAT658278Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18351306602166788336TC136106BenignJoubert_syndrome|Jeune_thoracic_dystrophy|not_...0.945720.985260.948081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18366702552166801882TG658209Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18373318732166847034TC285246BenignEpilepsy|Familial_hemiplegic_migraine..0.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18386693582166892346AG658226Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1839367532166892788CT45414BenignEpilepsy|Familial_hemiplegic_migraine|History_...0.723210.725210.788541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18404873622166893081GA480426BenignGeneralized_epilepsy_with_febrile_seizures_plu...0.732420.72220.788741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18416706202166894230TC658377Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18426693032166895725TC658379Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18436749412166895819AG658311Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18446693012166896287TG658249Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18456842292166896362GA658313Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1846367522166897864AG45413BenignEpilepsy|Familial_hemiplegic_migraine|Generali...0.72336.0.788941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18473318902166897989GGA282540BenignEpilepsy|Familial_hemiplegic_migraine...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18486708422166898017GT658253Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18496693002166899102TA658257Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18506842252166899878GA658343Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18516705992166900606AC658382Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18526842172166902103AT658324Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18536705982166903228CT658334Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1854367512166903445TC45412BenignEpilepsy|Familial_hemiplegic_migraine|Generali...0.639630.703390.709271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18556692992166903660TC658335Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18566842162166903756CA658258Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18576749402166904025GA658349Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18586708412166904062GT658350Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18596705972166904346GA658337Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18604961142166905375AG486945Benignnot_provided0.476670.524820.4981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18613785102166905480GA365909Benignnot_specified0.63957.0.709071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18626749392166905572TA658351Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18636842152166907971CT658397Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18646842142166909104CT658354Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1865128972166909544CT27936drug_responseFebrile_seizures,_familial,_3a|carbamazepine_r.....0.493411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18666749382166909559CA658360Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18676692972166909695AG658277Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18686689722166911586TC658358Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18696692962166912757CT658369Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18706692952166914895AG658359Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18716692942166915335CA658364Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18723319032167052328AG283192BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.088460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18733319072167052542CT284812BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.422320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18743319082167052555CTTAAAAAAGTTC282565BenignCongenital_Indifference_to_Pain|Paroxysmal_ext......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18753319132167052885TA283202BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.032351|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18763319212167053036CG284821BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.046730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18773319252167053386GA282571BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.083670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18783319262167053408CT283209BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.032350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18793319362167054063TTTG285321BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.088460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18803319382167054169GA283243BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.083470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18813319442167054409CCTT284837BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.046730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18823319482167054765CCA285329BenignCongenital_Indifference_to_Pain|Paroxysmal_ext......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18833319502167054934GGAATC282582BenignCongenital_Indifference_to_Pain|Paroxysmal_ext......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18841302702167056337CA135717BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.072040.061980.031950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18852588882167060449AT250346Benignnot_specified0.886960.885030.901361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18861676572167060980GAAACG178055BenignCongenital_Indifference_to_Pain|Paroxysmal_ext......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18871302662167089976TC135713BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.073690.07370.032150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18884402552167099158AG433906Benignnot_specified0.877450.869260.887181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18891676592167137119GA178056BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.561630.527350.545731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1890213442167141109GT34196Benign/Likely_benignPrimary_erythromelalgia|Generalized_epilepsy_w...0.021350.024030.012380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18911302572167144974AT135704BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.562370.494410.546731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18921302562167144995TC135703BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.386570.373040.354431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18931302542167145142AG135701BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.385160.3740.354431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18941302692167163043TC135716BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.71297.0.641170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18951302592167168093CT135706BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.676910.58740.574280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18967818222167298093AG707826Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18973320132169779712TC285408BenignProgressive_familial_intrahepatic_cholestasis..0.507190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18983320142169779764CT282611BenignProgressive_familial_intrahepatic_cholestasis..0.506790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18993320182169779896TC283364BenignProgressive_familial_intrahepatic_cholestasis..0.729231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19002591522169789016TC250356BenignProgressive_familial_intrahepatic_cholestasis|...0.45460.55570.496810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19012591482169801488AG250359Benignnot_specified0.752350.766330.855231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19022591472169814655GT250360Benignnot_specified0.450570.539850.49761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19031942142169830328AG191377BenignProgressive_familial_intrahepatic_cholestasis|...0.595780.579430.588660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19042591582169842809TC250364BenignProgressive_familial_intrahepatic_cholestasis|...0.739570.705310.774160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19051295022169997051GA134948BenignDonnai_Barrow_syndrome|not_specified0.601340.683890.559511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19061295012170003432TG134947BenignDonnai_Barrow_syndrome|not_specified0.604490.717640.555911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19071295002170010985TC134946BenignDonnai_Barrow_syndrome|not_specified0.801320.762130.777961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19081294932170025083AG134939BenignDonnai_Barrow_syndrome|not_specified0.151780.202620.19071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19091295262170092395AG134972BenignDonnai_Barrow_syndrome|not_specified0.377980.333740.461260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19102594182170096018GA250376Benignnot_specified0.341690.393280.444090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19112594162170099446TG250378Benignnot_specified0.53560.538310.618610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19121295192170099473TC134965BenignDonnai_Barrow_syndrome|not_specified0.503230.52310.581870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19132594142170099895AC250380Benignnot_specified0.55251.0.021170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19142594132170099899GA250381BenignDonnai_Barrow_syndrome|not_specified0.534680.53730.618610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19151295162170103336TC134962BenignDonnai_Barrow_syndrome|not_specified0.535750.538480.618610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19161295152170103351GT134961BenignDonnai_Barrow_syndrome|not_specified0.402430.492080.456470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19171295102170115588TC134956BenignDonnai_Barrow_syndrome|not_specified0.542750.546440.62240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19181295072170129528GA134953BenignDonnai_Barrow_syndrome|not_specified0.615020.624540.609631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19191295392170147502CG134985Benign/Likely_benignDonnai_Barrow_syndrome|not_specified0.05536.0.040340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19202594212170148745AG250382Benignnot_specified0.053740.061640.038940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19212594222170218816TC250383BenignDonnai_Barrow_syndrome|not_specified0.988530.996390.984631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19221295342170218847CG134980BenignDonnai_Barrow_syndrome|not_specified0.989240.997110.984631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19232626332170336024GC250384Benignnot_specified0.898360.910690.917531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19243322212171673475GA282779BenignCerebral_palsy_spastic_quadriplegic..0.175520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19251288892172291616CT134336BenignHypogonadism,_diabetes_mellitus,_alopecia,_men...0.274490.272320.306710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19261288922172330393AG134339BenignHypogonadism,_diabetes_mellitus,_alopecia,_men...0.191530.226660.206670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19271288872172336541CT134334BenignHypogonadism,_diabetes_mellitus,_alopecia,_men...0.190450.224280.206070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19283322802172338194GA283636BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.263270.206470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19293322812172338300TG285663BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.263130.206070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19303322972172339964CT285190BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.998610.977441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19313323002172340049TA283665BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.264310.206470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19323323062172340419TC285733BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.28250.271760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19333323112172340736CG285742BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.264820.206470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19343323132172341327AG282851BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.263380.206470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19353323232172640734CT285205Likely_benignHypomyelination,_global_cerebral..0.101440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19363323442172693780GA285231Likely_benignHypomyelination,_global_cerebral|not_provided0.204830.267110.267370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19373323462172725301AG282898BenignHypomyelination,_global_cerebral|not_provided0.81470.856710.790941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19383323522173292379GA285786Likely_benignEpidermolysis_bullosa_junctionalis_with_pylori.....0.070090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19393323562173292709AG285264BenignEpidermolysis_bullosa_junctionalis_with_pylori...0.32080.356040.50060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19403323572173292713CT285266BenignEpidermolysis_bullosa_junctionalis_with_pylori...0.317460.346290.489020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19413323602173339808GA285272BenignEpidermolysis_bullosa_junctionalis_with_pylori...0.312550.280960.25160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19423323652173344474AG283693BenignEpidermolysis_bullosa_junctionalis_with_pylori...0.40812.0.407151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19433323712173352157AT283697BenignEpidermolysis_bullosa_junctionalis_with_pylori...0.04098.0.087060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19443323952173369231AG282931BenignEpidermolysis_bullosa_junctionalis_with_pylori.....0.633991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19453324182173370689TTA282948Likely_benignEpidermolysis_bullosa_junctionalis_with_pylori......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19467695752175292580TTCAAATTTATCAGT697167Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19474036082175436940GA389462BenignWiskott-Aldrich_syndrome_2|not_specified0.9230.941050.907951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19486791342175613115GA658373Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19496791332175613169AC658384Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19506791322175613600TC658388Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19513324452175614908CAAC283798BenignMultiple_pterygium_syndrome_Escobar_type|not_s......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19522572372175622788GA250401Benignnot_specified|not_provided0.997770.999330.99821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19536791292175622907TC658394Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19546680892175623763CT658395Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19552572352175624107GAG250402BenignMultiple_pterygium_syndrome_Escobar_type|not_s......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19566791282175624597GA658283Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19576791272175628847TC658284Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19586801212175629021CA658424Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19593324642175677022CT283832Likely_benignDuane's_syndrome0.359580.433540.336861|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19601931072176957822GA190272Benignnot_specified.0.368280.447880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19613325062176984454AT285895BenignVertical_talus,_congenital..0.253790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19626837482178257214GA658401Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19636837532178301167TC658405Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19646837562178305437AG658434Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19656837702178326952AG658436Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19666837752178358072CT658447Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19676837772178358233GT658411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19686837792178370040TC658412Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19693325492178404735TTAAAG283057BenignRhizomelic_chondrodysplasia_punctata...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19703325832178406481CT285569BenignRhizomelic_chondrodysplasia_punctata..0.696691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19713325852178406769AAT285580BenignRhizomelic_chondrodysplasia_punctata...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19723325922178407176CA283120BenignRhizomelic_chondrodysplasia_punctata..0.8771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19733325992178407897TC283878BenignRhizomelic_chondrodysplasia_punctata..0.87641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19743326112179296248CCACA286048BenignDystonia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19753326122179296381ACAATA283881BenignDystonia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19763326132179296511CT285621Uncertain_significanceDystonia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19773326152179296626GA283885BenignDystonia..0.214860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19783326182179296666TC283886Uncertain_significanceDystonia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19793326202179296821GA285627BenignDystonia0.209750.24498.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19804696122179296971GA449299Benignnot_provided0.008460.007820.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1981476912179395874CT56855Conflicting_interpretations_of_pathogenicityCardiomyopathy|Hypertrophic_cardiomyopathy|Dis...0.008690.008880.003190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1982474522179424558CT56616Benign/Likely_benignCardiomyopathy|not_specified|Cardiovascular_ph...0.008610.008920.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1983473672179432185AG56532Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.225860.236810.129991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1984472932179440029GA56458Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.23862.0.146571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1985472862179440367CT56451Uncertain_significanceLimb-girdle_muscular_dystrophy,_type_2J|Dilate...0.000160.00025.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1986472502179444768CG56415Benign/Likely_benignCardiomyopathy|Hypertrophic_cardiomyopathy|Dis...0.995620.998630.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1987472182179449131GA56383Benign/Likely_benignHypertrophic_cardiomyopathy|Limb-girdle_muscul...0.03170.025640.010780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19885951482179454626CT586210Uncertain_significancenot_provided8e-052e-05.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1989471202179462494AG56285Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.220010.234870.1271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1990468862179545859CT56051Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.226360.234730.1261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1991468592179554305CT56024Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.433490.399480.413341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1992467142179585266CT55879Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.981410.994960.982031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1993465902179600563GA55755Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.981030.994880.981831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1994477432179614952AG56907Benignnot_specified0.972550.99260.975041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1995477362179615887TC56900Benignnot_specified0.818060.827090.733031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1996477352179615931CG56899Benignnot_specified0.972450.992610.975041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1997477332179615994TC56897Benignnot_specified0.972470.992560.975041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19986808212179617567CT658475Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1999478522179620951CT57016Benignnot_specified|not_provided0.902810.85080.804511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20001378322179621477CT141535Benignnot_specified|not_provided0.999170.999690.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2001465822179623758CT55747Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.902350.851170.808911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2002477072179629363TC56871Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.970320.99210.973641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2003476922179629461CT56856Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.896510.850020.804911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2004470632179642425GA56228Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.946490.958770.911541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2005470012179644035GA56166Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.950860.960580.920131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2006469732179644855TC56138Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.734890.694440.50021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20076808192179645577CT658485Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20086808172179649349GA658491Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2009467742179650701CT55939Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.3360.319220.204671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20106720452179650954GA658492Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20116720442179664050AG658662Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20126712112179667090CT658509Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20133329792182401566CT283440BenignRetinitis_Pigmentosa,_Recessive.0.998260.991411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20143329872182402031CT286027BenignRetinitis_Pigmentosa,_Recessive.0.998240.991411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20153330012182402790GA284119BenignRetinitis_Pigmentosa,_Recessive.0.768890.767570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20161668442182403851GA177576Benignnot_specified|Retinitis_Pigmentosa,_Recessive0.993230.997480.991211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20172571492182413259AG250436Benignnot_specified|Retinitis_Pigmentosa,_Recessive0.593130.623940.648360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20181668462182413602AT177577BenignRetinitis_pigmentosa_26|not_specified0.593110.618070.647960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20191668482182468818AT177578Benign/Likely_benignRetinitis_pigmentosa_26|not_specified|Retiniti...0.226630.16020.271170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20201668492182521578GA177579Benignnot_specified|Retinitis_Pigmentosa,_Recessive0.402030.525710.507391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20218018392182543455TC790136BenignMaturity_onset_diabetes_mellitus_in_young...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20223330422182545218CT286090BenignMaturity_onset_diabetes_mellitus_in_young..0.778161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20236737822189849773AG658588Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20246709612189855674TA658634Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20256784602189856671CT658519Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20266833602189857336AG658693Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20271996942189859434CTC196782Conflicting_interpretations_of_pathogenicityEhlers-Danlos_syndrome,_type_4|Thoracic_aortic......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20286709642189860128CT658643Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20296709652189862203CT658541Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20306722362189864840CT658648Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20312549622189866199TA250446Benignnot_specified|not_provided0.701290.758660.776361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20326742742189867205GA658555Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20336833532189874223CCA658663Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20342265402189875421TG228910BenignEhlers-Danlos_syndrome,_type_4|Thoracic_aortic...0.994930.998510.996611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20356723102189899541TC658664Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20366709902189899572TC658674Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20376722872189900093CT658665Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20386812172189901060CT658679Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20392560042189901295GA250456Benignnot_specified|not_provided0.712780.724510.643371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20406812162189906743GA658758Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20416812152189913273CT658759Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20426812122189916513TC658593Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20436722862189918337TC658699Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20446709872189918787CT658599Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20456709862189923104AG658711Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20466722852189923401TC658603Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20476722842189923434AC658606Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20482130772189923630ATA209545Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20496722832189925313GC658784Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20502559972189925548TA250461Benignnot_specified|not_provided0.962330.959290.942491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20516709842189927506CG658712Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20526791692189928999CCAAGTA658710Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20536812112189930854GA658713Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20541369392189932764GA140642Benign/Likely_benignEhlers-Danlos_syndrome,_type_7A|Ehlers-Danlos_...0.039750.032410.011580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20556722822189936687TG658720Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20566812102189945414GA658608Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20571369682189963501GA140671Benign/Likely_benignEhlers-Danlos_syndrome_classic_type_2|Ehlers-D...0.006840.006380.004390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20584395402189974794GA433445BenignEhlers-Danlos_syndrome_classic_type_2|not_prov.....0.788541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20594395392189974958GT433444BenignEhlers-Danlos_syndrome_classic_type_20.939950.93220.888581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20606791682189975415TA658741Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20612604222190430177AG250469BenignHereditary_hemochromatosis|not_specified|not_p...0.501540.614250.550121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20627744112190617411TTA697214Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20633693222190648805GT353551Likely_benignLynch_syndrome..0.088060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20643331992190649316GC284296Likely_benignLynch_syndrome..0.219250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20653332232190921242GA286659BenignMyostatin-related_muscle_hypertrophy..0.031350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20663799862191161622TC366282Benignnot_specified|not_provided0.72420.739280.684311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20673799852191184475AG366807Benignnot_specified|not_provided0.55190.527870.431710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20683799842191184524CT366040Benignnot_specified0.656330.684310.548720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20694034952191922841GA389452Benignnot_specified0.570120.641540.496411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20704027482196673533AG389457Benignnot_specified0.963250.989350.961261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20714027532196791276TG389459Benignnot_specified0.487530.589330.480031|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20724027552196851911GA389470Benignnot_specified0.525630.631210.540740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20734027562196866420CT389460Benignnot_specified0.730280.828190.653751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20744027572196912067AG389467Benignnot_specified0.708470.7330.771770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20756715562198359027GC658840Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20761292412198362018TC134687Benignnot_specified|Spastic_paraplegia,_autosomal_do...0.695370.649010.654550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20771292432198363504AG134689Benignnot_specified|Spastic_paraplegia,_autosomal_do...0.164390.164260.158150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20781375672198364518GA141270Benignnot_specified|Spastic_paraplegia,_autosomal_do.....0.233230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20795877562200173684TG578967BenignHistory_of_neurodevelopmental_disorder0.933030.981970.930911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20803334182202050677AG284490BenignAutoimmune_lymphoproliferative_syndrome|not_sp...0.510150.45240.394171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20813334422202082459TA286508BenignAutoimmune_lymphoproliferative_syndrome|not_sp...0.442720.409880.329071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20823334712202084428CTC286531BenignAutoimmune_lymphoproliferative_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20833334762202085051TGT284569Uncertain_significanceAutoimmune_lymphoproliferative_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
208477632202097531TAGTAAGT22802protectiveLung_cancer,_protection_against..0.388981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20854024922202122995AG389468Benignnot_specified0.669470.66730.646370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20863335052202149696GA284615BenignCaspase-8_deficiency0.106180.1020.175320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20873335132202151439GC284626BenignCaspase-8_deficiency..0.554310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20883335202202151781TC283943BenignCaspase-8_deficiency..0.177720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20893335262202152243GGAT284641BenignCaspase-8_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20902573142202491995GA250479Benignnot_specified|not_provided0.25169.0.361820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20916675542202501205TC658841Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20922573172202501448TC250486Benignnot_specified|not_provided0.66860.656580.585060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20933335742202565570CT283960Likely_benignALS2-Related_Disorders|Amyotrophic_Lateral_Scl.....0.102440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20943335772202565681GA287069Likely_benignALS2-Related_Disorders|Amyotrophic_Lateral_Scl.....0.089660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20952613792202570232AG250492Benignnot_specified0.890640.923630.905951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20962613772202575821GA250494BenignALS2-Related_Disorders|not_specified|Amyotroph...0.890.923210.905351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20972613752202580370GA250496Benignnot_specified0.820530.830480.804110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20982613732202591157CT250498Likely_benignnot_specified0.01661.0.003990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20992613692202593280GA250501Benign/Likely_benignALS2-Related_Disorders|not_specified|Amyotroph...0.076480.097850.115020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21002613682202598113CT250502BenignALS2-Related_Disorders|not_specified|Amyotroph...0.4680.527170.37240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21012613642202625615CT250505BenignALS2-Related_Disorders|not_specified|Amyotroph...0.861450.91060.896571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21026786842203329950AG658846Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21036760562203419859AG658748Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21041365282203420712GA140231Benign/Likely_benignPrimary_pulmonary_hypertension|not_specified0.025680.025160.009980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21053336822203427559CCA287174BenignPrimary_pulmonary_hypertension...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21063337152203430456TG286792BenignPrimary_pulmonary_hypertension..0.554310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2107169212204732714AG31960BenignDiabetes_mellitus,_insulin-dependent,_suscepti.....0.427321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21083337712206988452AT286845Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.079470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21093337742206988573CA284912Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.477240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21106830682206989170CA658032Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21116830492206990984AG658036Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21126695172206992987TC658163Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21136830482206995139CA658164Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21146830462206995240GA658167Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21156830452206997419GA658147Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21166830422206998050AG658169Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21176695162207003671TC658171Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21186830412207006466GA658041Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21191296952207006676TC135141Benign/Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.360530.310520.30990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21206827582207007127CT658173Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21216695142207007177GA658174Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21221296962207008763CA135142Benign/Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.50961.0.462260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21233337902207024107GC284926Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.380190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21243337942207630338CT284936Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.110420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21256839052207637364GA658751Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21263338112207656613AG284961Uncertain_significanceHepatic_failure,_early-onset,_and_neurologic_d.....0.013580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21273338252207657741GA286901Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.18530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21282600592208986385AG250511BenignCataract|not_specified0.937180.879240.81171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21292600612208986637TC250512BenignCataract|not_specified|not_provided0.89243.0.776761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21302600622208989037AG250514BenignCataract|not_specified|not_provided0.574430.596880.644771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21316771662209007559TG655409Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21326771652209010558AG655410Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21333338972209184980GA284315BenignFleck_corneal_dystrophy0.992150.997690.991811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21343338982209184999CT285012BenignFleck_corneal_dystrophy0.922140.959760.911541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21353339052209190330TC287364BenignFleck_corneal_dystrophy0.92242.0.911741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21363339092209190519AT287006BenignFleck_corneal_dystrophy0.922340.959720.911541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21373339102209190528CG287007BenignFleck_corneal_dystrophy0.923110.960060.912141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21383339172209191082CA284327BenignFleck_corneal_dystrophy0.922340.959610.911541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21393339182209191099TC284328BenignFleck_corneal_dystrophy0.994620.998470.996011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21403339282209209827GA285022BenignFleck_corneal_dystrophy0.921650.959550.910941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21413339302209212707GA284331BenignFleck_corneal_dystrophy0.683070.809860.716051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21423339322209214770AG284336BenignFleck_corneal_dystrophy0.921790.95960.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21433339342209215586AG284342BenignFleck_corneal_dystrophy0.921880.959610.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21443339412209220157GT287029BenignFleck_corneal_dystrophy..0.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21453339422209220238GC287467BenignFleck_corneal_dystrophy..0.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
214616202211060050TG16659BenignVery_long_chain_acyl-CoA_dehydrogenase_deficie....0.301090.211060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21473339972211074909TC287296BenignVery_long_chain_acyl-CoA_dehydrogenase_deficiency0.277260.301820.211660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21486714082211342138TG658854Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21491370262211342502GA140729BenignCongenital_hyperammonemia,_type_I|not_specified0.427570.506570.480830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21502036472211421452AATCT199986BenignCongenital_hyperammonemia,_type_I|not_specifie......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21516836112211438396GA658856Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21526836122211455342TC658858Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21532814762211456637ACCGCT265713Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21541288512211481257CG134299BenignCongenital_hyperammonemia,_type_I|not_specifie...0.66223.0.649160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21552584792211515058AT250536Benignnot_specified|not_provided0.357530.418570.422720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21566836162211523163AG658760Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21572584832211527827GTG250540Benign/Likely_benignCongenital_hyperammonemia,_type_I|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21581288522211540507CA134300BenignCongenital_hyperammonemia,_type_I|not_specified0.329160.303390.288540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21592036462211541721AG199993Benign/Likely_benignCongenital_hyperammonemia,_type_I|not_specified0.03737.0.019370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21603340422211543055TC287441BenignCongenital_hyperammonemia,_type_I..0.236220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21613340452211543147TG284568BenignCongenital_hyperammonemia,_type_I..0.268971|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21623340462211543401CG285250BenignCongenital_hyperammonemia,_type_I..0.245811|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21637692642212578379TAT777230Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21648018752215593261CTC,CTTT790173BenignFamilial_cancer_of_breast...1|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
21652562142215632192GA250542Benign/Likely_benignNeoplasm_of_the_breast|Hereditary_cancer-predi...0.335310.36140.352240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21662154712215632255CATG212134Benign/Likely_benignHereditary_cancer-predisposing_syndrome|not_sp......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21672562132215634055CT250543BenignHereditary_cancer-predisposing_syndrome|not_sp...0.359530.381810.365220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21681427692215645464CG152483Benign/Likely_benignNeoplasm_of_the_breast|Hereditary_cancer-predi...0.531830.54870.459271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21693341962215657182TAAT285273Conflicting_interpretations_of_pathogenicityNeoplasm_of_the_breast|Hereditary_cancer-predi......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21701836982215674224GA181856Benign/Likely_benignNeoplasm_of_the_breast|Hereditary_cancer-predi...0.303140.437680.331270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21713342002215674341AG284585Likely_benignNeoplasm_of_the_breast0.785180.689510.745010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21723342042215796302GGACAA287669BenignCongenital_ichthyosiform_erythroderma...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21733342082215796568TC287676BenignCongenital_ichthyosiform_erythroderma..0.593851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21743342182215797332CT287697BenignCongenital_ichthyosiform_erythroderma0.387360.431350.398161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21752628332215812297GA250544Benignnot_specified0.523450.469680.523361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21762628312215820013GA250546BenignCongenital_ichthyosiform_erythroderma|not_spec...0.382210.405110.350041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21772628282215851246AG250549Benignnot_specified0.998850.999680.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21782628242215876166AT250553BenignCongenital_ichthyosiform_erythroderma|not_spec...0.997770.99940.99841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21798018932216190020CG790193BenignAICAR_transformylase/IMP_cyclohydrolase_defici......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21802259992216212339TC227829drug_responsemethotrexate_response_-_Efficacy.0.39660.285541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21817886972216289830GA708016Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21828018952216300482TA790195BenignSpondylometaphyseal_dysplasia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21833342802217277249CT284640BenignSchimke_immunoosseous_dysplasia..0.207870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21842606622219205471GA250572BenignParoxysmal_nonkinesigenic_dyskinesia_1|not_spe...0.065820.043870.051320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21853343322219209796CA284672BenignParoxysmal_nonkinesigenic_dyskinesia_1..0.274360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21863343422219210606TC287832BenignParoxysmal_nonkinesigenic_dyskinesia_1..0.476640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21873343452219210781GA287836BenignParoxysmal_nonkinesigenic_dyskinesia_1..0.468050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21887692652219266385GA697320Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21896696952219525335CT658817Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21903343622219646547AAC287853BenignCholestanol_storage_disease...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21912812202219924867GA265457Benign/Likely_benignBrachydactyly|not_specified|not_provided0.003150.004110.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21927801002220097286GA708050Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21937801012220099713CT708052Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21946807492220144410GC658820Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21951371182220145286CT140821Benignnot_specified0.27849.0.269770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21966807502220146196GT658678Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21976740222220146402CT658898Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21981371192220146651GA140822Benignnot_specified0.171770.149630.155350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21996716772220147108GT658792Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22006807512220147732CT658793Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22016720132220282955CT658797Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2202360022220283259AG44666BenignCardiomyopathy|Scapuloperoneal_weakness|Myofib...0.897230.965210.886181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2203360032220283277TC44667BenignCardiomyopathy|Scapuloperoneal_weakness|Myofib...0.87939.0.866011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22042584912220284779CT250577Benignnot_specified|not_provided0.479630.616940.529351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22053693312220291474TC353560BenignScapuloperoneal_weakness|Myofibrillar_myopathy.....0.528361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22061949722220416942GC192134BenignThree_M_syndrome|not_specified0.435330.466810.387581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22072880142220417266CT272251BenignThree_M_syndrome_2|Three_M_syndrome|not_specified0.420030.468330.37661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22083344662220419236TC287705BenignThree_M_syndrome0.987750.996080.985221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22093344692220419339TC287707BenignThree_M_syndrome0.961390.985860.961061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22103344702220420785GA284807BenignThree_M_syndrome0.25997.0.229231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22113344752220420956AG284811BenignThree_M_syndrome0.969380.990080.963661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22123344932220422583GA287738Uncertain_significanceThree_M_syndrome0.010670.010130.003990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22133344962220422774AG288042BenignThree_M_syndrome0.45583.0.419131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22143345032220427395GA287767BenignThree_M_syndrome0.192090.202810.164141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22153345082220430203CT287769BenignThree_M_syndrome0.828230.865450.792731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22161933822220435034AG190546BenignThree_M_syndrome|not_specified0.820850.864420.783351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22172901292220435375GA274366BenignThree_M_syndrome|not_specified0.297450.444770.358830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22181954322223161889AG192593BenignCraniofacial_deafness_hand_syndrome|Waardenbur...0.846530.887160.904351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22196826272224821790AT658921Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22206826282224822669TC658799Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22216695052224824002CA658844Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22226826352224828298GA658926Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22233345702225335173GA285544BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.995610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22243345882225336050AG284901Likely_benignPseudohypoaldosteronism_type_1_autosomal_dominant..0.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22256833282227924774CT658689Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22266827982227942519AG658805Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22272549782228102723GC250620BenignAlport_syndrome|Alport_syndrome_3,_autosomal_d...0.35109.0.230230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22282549962228111435TC250625BenignAlport_syndrome|Alport_syndrome_3,_autosomal_d...0.770430.830220.796731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22292550012228113175AG250626BenignAlport_syndrome|Alport_syndrome_3,_autosomal_d...0.770130.83040.796331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22302550092228120800TC250631Benignnot_specified0.025770.027450.014180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22312550102228121101GT250632Benign/Likely_benignAlport_syndrome|Alport_syndrome_3,_autosomal_d...0.165770.166750.115821|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22322549852228135631CT250642BenignAlport_syndrome|Alport_syndrome_3,_autosomal_d...0.389010.469450.399961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22335855212228173078AG576665Benignnot_provided..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22343347922228176901AC285112BenignAlport_syndrome..0.729031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22353347992228177479CT288476BenignAlport_syndrome..0.847641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22363348082228177751GA288077BenignAlport_syndrome..0.268971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22373348092228177825CG288078BenignAlport_syndrome..0.916131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22383348172228178645CG288490BenignAlport_syndrome..0.916131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22393348212228178780AC285135BenignAlport_syndrome..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22406842442228194653CT658703Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22416842462228197488AG658849Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22426842512228207776CA658845Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22436842522228220769TC658716Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22443348342228550004GA285141BenignThiamine_Metabolism_Dysfunction_Syndrome..0.997011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22452151552228560800GAG210790BenignBiotin-thiamine-responsive_basal_ganglia_disea......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22466838572228564591AT658746Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22473693322228582746GA353561BenignThiamine_Metabolism_Dysfunction_Syndrome..0.535541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22483348962231036768TC288165Benign/Likely_benignHepatic_venoocclusive_disease_with_immunodefic...0.117560.100230.078870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22493348982231036866GA288166Benign/Likely_benignHepatic_venoocclusive_disease_with_immunodefic...0.10849.0.068090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22503349022231042276AG288174BenignHepatic_venoocclusive_disease_with_immunodefic...0.41750.425640.324880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
225155392231050715AG20578BenignMycobacterium_tuberculosis,_susceptibility_to|.....0.903951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22523349092231072709CT288178BenignHepatic_venoocclusive_disease_with_immunodefic...0.702290.708720.802520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22533349112231077112GA288179BenignHepatic_venoocclusive_disease_with_immunodefic...0.215290.210780.159150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22543349122231077154GA285894BenignHepatic_venoocclusive_disease_with_immunodefic...0.286940.237880.228830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22554034652231077725AG389491Benignnot_specified0.914810.909070.951081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22567678682233244930GC697393Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22571289572233349588GA134404Benignnot_specified0.958020.98320.962661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22586771802233385396GA655432Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22596771812233388813TG655433Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22606776642233389918AG658970Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22618019112233408220AGA790211BenignMultiple_pterygium_syndrome_Escobar_type...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22621940642233410294CT191227Benign/Likely_benignMultiple_pterygium_syndrome_Escobar_type|not_s...0.176460.186940.151960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22633350212233410922AG288732Likely_benignMultiple_pterygium_syndrome_Escobar_type..0.157350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22643350232233410994CT288738Likely_benignMultiple_pterygium_syndrome_Escobar_type..0.155150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22653350262233411016CTCTTTTTC285970Likely_benignMultiple_pterygium_syndrome_Escobar_type...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22663350292233630577GA288739Uncertain_significanceLeber_congenital_amaurosis..0.004990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22675183372233712049GA508778BenignParkinson_disease_110.641010.635130.605231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22685183402233712296GA508781BenignParkinson_disease_110.683210.644950.639981|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
226911302234183368AG16169BenignInflammatory_bowel_disease_10,_susceptibility_....0.45780.395970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22701676352234235749GC178039Benignnot_specified0.395480.44060.366810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22713350692234235820CT288347Benign/Likely_benignOguchi's_disease|Retinitis_Pigmentosa,_Recessi...0.129350.101470.106230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22721946062234255547GA191769BenignOguchi's_disease|not_specified|Retinitis_Pigme...0.308220.390920.302920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22732259932234580453ATA227745drug_responseSN-38_response_-_Other...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22744403842234590527TG434018Uncertain_significancenot_specified..0.297720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22754403852234590616CA434019Benignnot_specified0.34884.0.297320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22764403862234590970TG434020Benignnot_specified.0.588050.576280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22774403892234591205TC434023Benignnot_specified0.349220.351290.297720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22784403782234601669TG434012Benignnot_specified0.40420.39010.362220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22794403792234601965AG434013Benignnot_specified0.360530.351850.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22804403812234602191AG434015Benignnot_specified0.304630.313330.277560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22814403802234602202AC434014Benignnot_specified0.339920.345670.324680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2282122882234665659TG27327BenignGilbert's_syndrome|Gilbert_syndrome,_susceptib.....0.588060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22838107322234665782GA798981Likely_benignGilbert's_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22842260292234668570CT227747drug_responseatazanavir_response_-_Other..0.354030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2285122892234672639GT27328Benign,_associationGilbert's_syndrome|Bilirubin,_serum_level_of,_.....0.347640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22868107332234672722TG798982BenignGilbert's_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22873350842234681416TC285391BenignCrigler-Najjar_syndrome|Gilbert's_syndrome|Luc.....0.75241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22883350852234681544GC288359BenignCrigler-Najjar_syndrome|Gilbert's_syndrome|Luc.....0.821091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22893350862234681645GC288783BenignCrigler-Najjar_syndrome|Gilbert's_syndrome|Luc.....0.745011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22907793272237032574CT708124Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22913350892238232752CA285394BenignCollagen_VI-related_myopathy..0.68790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22923350912238232811TA286060BenignCollagen_VI-related_myopathy..0.155550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2293949002238233410CG100800BenignCollagen_VI-related_myopathy|not_specified0.13824.0.209860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2294950222238233483GA100922Benignnot_specified|not_provided0.252730.29080.229630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2295950182238243292GA100918BenignCollagen_VI-related_myopathy|not_specified0.362290.38840.346251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2296950142238243464CG100914BenignCollagen_VI-related_myopathy|not_specified0.835080.772880.792331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22976792402238244575TC658901Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2298950082238244963AG100908BenignCollagen_VI-related_myopathy|not_specified0.696560.638620.636581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2299949982238249630CT100898BenignCollagen_VI-related_myopathy|not_specified0.367830.398750.342451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2300949682238258814CG100868BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.55890.548920.554311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23016792372238259675GA658999Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23026681092238265684CT658790Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23036812642238266146CT659005Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23046792312238266248GC658801Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23056792302238266633GA658939Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23066792292238267058GA658806Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2307949622238267717CT100862BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.249190.212890.330870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23086681082238268454AC659007Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23096807542238269871CG658818Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23106681072238270726AG658941Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2311949502238271882TTA100850BenignCollagen_VI-related_myopathy|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23126807532238274828CA659010Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2313949362238277573CA100836BenignCollagen_VI-related_myopathy|not_specified0.23435.0.265580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2314949332238277795AG100833BenignCollagen_VI-related_myopathy|not_specified0.347070.288880.388380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23156681062238278142GA658832Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2316949212238283605GA100821BenignCollagen_VI-related_myopathy|not_specified0.198060.232710.215860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23176792272238305211CT658833Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23183808072238322579AG367109Benignnot_specified..0.270170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23198019152240111870CGC790215BenignBrachydactyly-Mental_Retardation_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23203351522240897085CT285460Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.590451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23213351562240897331GA286135Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.255791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23223351742240898578CT288875Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.508391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23233351832240899346GA286170Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.286741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23243351932240900121CT288898Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.24941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23252147022240900607TGT210797Benign/Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23266698852240944975CT659026Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23271296862240946766TC135132Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.367690.406440.356231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23286695072240954593CT658965Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23296698692240957734GA658960Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23301296852240961728TC135131Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.694530.666260.702481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23316695062240964393CCTC659031Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23327678762240985347GA697464Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
233350932241531174GA20132risk_factorDiabetes_mellitus_type_2..0.18550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23343352332241654958GA286218Likely_benignHereditary_sensory_and_autonomic_neuropathy_ty.....0.388780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23353352402241655544GA288531Likely_benignHereditary_sensory_and_autonomic_neuropathy_ty.....0.272360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23366704952241659368CA659052Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23376828472241660978TC658972Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23386714262241676929GT658981Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23396705352241680633GT659071Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23406828432241684660TC658996Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23416729322241685027GA658876Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23421293892241685586GA134835Benign/Likely_benignHereditary_sensory_and_autonomic_neuropathy_ty...0.05727.0.050320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23436729312241685673CT659075Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23446729302241690195CA659079Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23452842742241696840ATCCA268511Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23466729292241700307GT658887Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23476729282241700318CT658992Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23486710332241702561TA659008Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23496838952241710083AG659084Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23506828312241713429TC659017Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23511293962241713646AG134842Benign/Likely_benignHereditary_sensory_and_autonomic_neuropathy_ty...0.448560.386230.513580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23526726692241722970GA659090Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23536740822241726230CA659064Likely_benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23546733872241726646AG658923Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23552040332241808825AGGCCTCCCTA200480Uncertain_significancePrimary_hyperoxaluria,_type_I...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23562040412241810957CT200508Uncertain_significancePrimary_hyperoxaluria,_type_I..0.239821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23572040542241815473GA200569Uncertain_significancePrimary_hyperoxaluria,_type_I0.426160.482230.343250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23582040572241817322CT200584Uncertain_significancePrimary_hyperoxaluria,_type_I..0.25221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23592040632241818279CA200610BenignPrimary_hyperoxaluria|Primary_hyperoxaluria,_t...0.304470.35720.25221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23602040642241818527AC200611BenignPrimary_hyperoxaluria|Primary_hyperoxaluria,_t.....0.719851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23613353072242674104AG285583BenignD-2-hydroxyglutaric_aciduria..0.724440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23621584142242674803GA168055Benign/Likely_benignD-2-hydroxyglutaric_aciduria|not_specified|not...0.2736.0.226440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23631584152242674959TG168057Likely_benignnot_specified0.726720.684320.742410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23641584172242680430AG168059Likely_benignnot_specified0.56486.0.56471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23651584212242682029TC168061Likely_benignnot_specified0.284430.251550.237020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23661584232242684115TC168063Benign/Likely_benignD-2-hydroxyglutaric_aciduria|not_specified|not...0.559320.488360.56111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23678019222242688366CT790222BenignD-2-hydroxyglutaric_aciduria_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23681584042242690675GA168064Benign/Likely_benignD-2-hydroxyglutaric_aciduria|not_specified|not...0.270810.248860.223640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23691584112242707101AG168071Likely_benignnot_specified0.617510.529430.629991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23703353322242707638GA289020Likely_benignD-2-hydroxyglutaric_aciduria..0.098440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23713353382242707833CT285603BenignD-2-hydroxyglutaric_aciduria..0.532950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23723353492242708162CT288640BenignD-2-hydroxyglutaric_aciduria..0.232631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237376788331339680GGTTTTTG777335Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237440255031424718GA389529Benignnot_specified0.407270.444930.483430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237566958333170409GC659840Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237640357033170792CT389592BenignSideroblastic_anemia_with_B-cell_immunodeficie...0.901820.972230.904551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237767643333170966TC659841Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237868428233171023AG659968Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237966958433171125GA659744Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238067143733179400AG659756Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238168428333181979TTA659849Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238267143833181987AT659670Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238368428433182485AG659671Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238468428533182500GC659970Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238567160533186719TG659853Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238668428733188901AC659684Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238766958533188914CG659974Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238838014533189279AG367091Benignnot_specified0.733770.798640.739020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238938014633189398AG367093Benignnot_specified0.580340.5430.400760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239012885533215954AG134303Benignnot_specified0.881980.967280.883791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239134529534403153TG294907BenignMultiple_sulfatase_deficiency..0.481631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239234530334403357AC291214BenignMultiple_sulfatase_deficiency..0.880191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239334530434403364TCTCAT294486BenignMultiple_sulfatase_deficiency...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239434530834403537CT294930BenignMultiple_sulfatase_deficiency..0.428120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239534531034403614TC291220BenignMultiple_sulfatase_deficiency..0.295530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239634531234403767AG291221BenignMultiple_sulfatase_deficiency..0.704470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239755894334403817TTAC549550Benignnot_specified|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23989655934403837AG102452BenignMultiple_sulfatase_deficiency|not_specified|no...0.653620.644050.760380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239968413234404087AG660029Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240068412534459972AG659939Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240168411934461569GA659879Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240226300934461698CT251142Benignnot_specified|not_provided0.896280.961740.886781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240312929834712413GA134744BenignSpinocerebellar_ataxia_29|not_specified|Spinoc...0.680850.683230.614020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240480493934767262TC793026Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240512930134829732AG134747Benignnot_specified|Spinocerebellar_Ataxia,_Dominant0.304880.329420.245610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240612930234842231CT134748Benignnot_specified|Spinocerebellar_Ataxia,_Dominant0.230850.286810.264580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240712930334856180TC134749Benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.802560.824420.790940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240812930434856234GA134750Benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.595490.605450.587460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240934590534888552AT295090Likely_benignSpinocerebellar_Ataxia,_Dominant..0.010180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
241034592934889440GT295184BenignSpinocerebellar_Ataxia,_Dominant..0.268771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
241168330138775153CT660042Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24123174638775457GA40406not_providednot_provided..0.224040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24133170938775661CT40369Benign/Likely_benignHypertrophic_cardiomyopathy|Long_QT_syndrome|R....0.301040.371010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24143170638788198AT40366Likely_benignHypertrophic_cardiomyopathy|Long_QT_syndrome|R.....0.348240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24153172038788336AG40380Likely_benignHypertrophic_cardiomyopathy|Long_QT_syndrome|R.....0.271570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24163170738788364CG40367Likely_benignHypertrophic_cardiomyopathy|Long_QT_syndrome|R.....0.322680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24173172738788485TA40387not_providednot_provided..0.836661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2418342394310141184CT291624BenignFanconi_anemia..0.206071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2419257063310142949CT250849Benignnot_specified0.307240.328130.214661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2420342397310183337GA291569BenignVon_Hippel-Lindau_syndrome..0.543331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2421342407310191943GA287967BenignVon_Hippel-Lindau_syndrome..0.557111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2422342424310192672GA287980BenignVon_Hippel-Lindau_syndrome..0.584671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2423342425310192709CT291585BenignVon_Hippel-Lindau_syndrome..0.556711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2424342451310193509AG287987BenignVon_Hippel-Lindau_syndrome..0.988021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2425342459310193683TG291602BenignVon_Hippel-Lindau_syndrome..0.548921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2426342491310194624GC288023BenignVon_Hippel-Lindau_syndrome..0.889981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2427342512310195293TTG288779BenignVon_Hippel-Lindau_syndrome..0.971051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24285062310331457GT20101Pathogenic,_risk_factorMetabolic_syndrome,_susceptibility_to|Obesity,....0.085570.083270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2429343059312526188GT292416BenignPontoneocerebellar_hypoplasia..0.454471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2430667568312533335AC659464Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2431670254312573336AG659478Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2432670802312573998TC659482Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2433343086312574512GT292284BenignPontoneocerebellar_hypoplasia..0.421930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2434343092312625264CTGTTC,CTGTTTGTT289310Uncertain_significanceNoonan_syndrome|Noonan_syndrome_with_multiple_......1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
243540624312626516GA49094Benignnot_specified0.442410.350430.364620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2436561371312628920GC552548Benignnot_provided..0.178320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2437561370312632652GC552550Benignnot_provided..0.344650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2438561369312633083AG552551Benignnot_provided..0.180510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2439561823312633552TC552553Benignnot_provided..0.538540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2440561368312641518AG552556Benignnot_provided..0.538540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2441561588312647457AG552561Benignnot_provided..0.194490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2442561367312653233GT552569Benignnot_provided..0.194690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2443561587312653800AG552571Benignnot_provided..0.173320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2444561522312660466GC552573Benignnot_provided..0.194490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2445679865314166394TC659746Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2446672164314166835CT659555Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2447672172314166872CT659554Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2448669015314172827CT659751Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2449672173314173963GT659564Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2450671030314174146TC659662Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
245146148314174427AT55313Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.287560.320870.352640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
245246150314175262TC55315Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.332770.372370.463260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2453671031314176446GA659571Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2454672174314177194TC659764Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2455672175314180552AG659771Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2456671209314180633CT659780Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2457343511314183410TC288952Benign/Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.68911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2458343518314183758AG288959Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.092650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2459343523314184074AC288962Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.129990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2460343535314184669TC292665Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.104830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2461343536314184719TC289712Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.130590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2462343550314186757CG292973Benign/Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.918931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2463343551314186823TC288985Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven....0.128790.107830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2464343552314186830AT288989Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.108230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2465343560314187345GC289736Benign/Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven....0.353320.254990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2466190215314187449GT187973drug_responseXeroderma_pigmentosum|Arrhythmogenic_right_ven...0.642060.632540.68471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2467259471314187699TC250965Benignnot_specified0.654880.646680.694291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2468259470314188762GC250966Benignnot_specified0.42720.473170.327881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2469190214314190237TG187976BenignXeroderma_pigmentosum|not_specified|not_provided0.635340.630160.679711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2470259469314190268GC250967Benignnot_specified0.42688.0.327881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2471135469314193889CT139208BenignXeroderma_pigmentosum|not_specified0.265830.273410.235420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2472190212314197987AT187977Benignnot_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2473135485314199887GA139224BenignXeroderma_pigmentosum|not_specified0.200580.237750.233030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2474259472314208625GC250973Benignnot_specified0.334040.321530.355630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2475259465314220095CG250975BenignXeroderma_pigmentosum|not_specified0.434680.421090.327881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2476343823315491756GA293420BenignCongenital_Myasthenic_Syndrome,_Recessive..0.388581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2477343828315492150CT293014BenignCongenital_Myasthenic_Syndrome,_Recessive..0.388581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2478343835315492636GA289150Likely_benignCongenital_Myasthenic_Syndrome,_Recessive..0.06170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2479343839315492786TA293024BenignCongenital_Myasthenic_Syndrome,_Recessive..0.452881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2480343840315492807GA289955BenignCongenital_Myasthenic_Syndrome,_Recessive..0.480231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2481128825315495386GA134274Benign/Likely_benignEndplate_acetylcholinesterase_deficiency|not_s...0.027060.029750.015180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2482679264315495644TC659854Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2483679263315495654AG659641Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2484668111315495764GA659646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2485679262315498261TC659856Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2486679261315498272GA659648Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2487128827315499713TC134276Benign/Likely_benignEndplate_acetylcholinesterase_deficiency|not_s...0.05705.0.052521|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2488679260315507761GA659858Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2489679259315508160TTCTGTC659866Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2490801939315509327CG790344BenignEndplate_acetylcholinesterase_deficiency...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2491259862315515695CT250990Benignnot_specified|not_provided0.474010.431390.479631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2492679257315515918CG659623Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2493259860315516481TC250992Benignnot_specified|not_provided0.370370.382520.385980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2494679255315516820CT659867Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2495259859315516910TC250993Benignnot_specified|not_provided0.368660.466520.385980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2496679253315517025GA659628Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2497259857315518731GC250994Benignnot_specified|not_provided0.380960.455990.402361|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2498679251315518841GA659632Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2499679250315518889TC659873Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2500679249315520244CT659875Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2501679247315520639TG659635Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2502679246315520677GT659754Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2503128826315520838TC134275Benign/Likely_benignEndplate_acetylcholinesterase_deficiency|not_s...0.048130.031920.035740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2504668110315529405CA659757Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2505679245315529543TC659878Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2506679244315562801TC659886Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2507369412315563268CG353641BenignCongenital_Myasthenic_Syndrome,_Recessive..0.420130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
25081900315686693GC16939Pathogenic/Likely_pathogenicBiotinidase_deficiency|not_provided.0.031660.018570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2509344532324158647CT289816BenignThyroid_Hormone_Resistance..0.194490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2510344533324158691CT289819BenignThyroid_Hormone_Resistance..0.142370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2511344545324159387AG290576BenignThyroid_Hormone_Resistance..0.480230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2512344584324161493CT294308BenignThyroid_Hormone_Resistance..0.129790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2513344586324161713AGA289852BenignThyroid_Hormone_Resistance...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2514344613324163021TC293766BenignThyroid_Hormone_Resistance..0.505390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2515198422324184995GA195583BenignThyroid_Hormone_Resistance|not_specified0.153620.155550.157550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2516344640324270500GGA293815BenignThyroid_Hormone_Resistance...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2517198889325775356AC196049Benignnot_specified0.821930.840450.800321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2518774296326751736CT698018Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2519344653330648248CG290674BenignMarfan_syndrome|Loeys-Dietz_syndrome|Thoracic_.....0.12621|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2520683997330691473GA659943Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2521684002330692219TC659667Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2522684003330712827AC659732Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2523678626330729636GA659737Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2524161394330733044TA171083Conflicting_interpretations_of_pathogenicityConnective_tissue_disorder|Marfan_syndrome|Con...0.001380.0014.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2525344681330733838CG293839BenignMarfan_syndrome|Loeys-Dietz_syndrome|Thoracic_.....0.114820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2526380173331641835CA367350Benignnot_specified0.054620.068490.037140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2527683540332147913GA659761Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2528671016332147977TG659862Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2529260571332181761CT251091Benign/Likely_benignBrugada_syndrome|not_specified|Cardiovascular_...0.19030.128590.149761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2530678494332187880AG659863Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2531671832332187943GT659705Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2532671834332188006GA659706Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2533678496332200123AG659770Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2534671835332200233GA659709Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2535672397332200913GA659776Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2536344741332208039CT289976Likely_benignBrugada_syndrome..0.093650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2537344742332208121AC293909Likely_benignBrugada_syndrome..0.077680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2538344745332208352CT294385Likely_benignBrugada_syndrome..0.096450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2539344747332208431AG294388Likely_benignBrugada_syndrome..0.598440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2540344750332208467TG289987Likely_benignBrugada_syndrome..0.5010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2541344764332209230TC289999Likely_benignBrugada_syndrome..0.554310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2542344771332209750TC294397Likely_benignBrugada_syndrome..0.570290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2543344773332209927AG290755Likely_benignBrugada_syndrome..0.570290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2544167145333055721AG177749Benignnot_specified0.932640.980040.927121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2545558920333065715CG549548Likely_benignnot_provided0.01278.0.003590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2546678119333093190TC659781Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2547678118333093628AC659984Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2548677897333099880TC659724Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2549678493333109487TC659990Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2550678066333110190GT659883Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2551678065333110656TC659991Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
255292905333138544AG98812BenignMorquio_syndrome|GM1_gangliosidosis|not_specif...0.882560.905160.927721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
255392904333138549GA98811BenignMorquio_syndrome|GM1_gangliosidosis|not_specif...0.47396.0.431911|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2554674862333155385TC659728Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2555193339333155782GA190503BenignOsteogenesis_imperfecta_type_7|not_specified|O...0.1250.218740.2490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2556667634333156196TC659729Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2557669818333160990AATTT659735Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2558195265333161898CT192426BenignOsteogenesis_imperfecta_type_7|not_specified|O...0.165690.170370.282350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2559379754333165884TC367110Benignnot_specified0.003690.003910.00220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2560674863333171659AG659993Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2561259968333174156TG251097BenignOsteogenesis_imperfecta_type_7|not_specified|O...0.38436.0.293530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2562259969333174168GA251098BenignOsteogenesis_imperfecta_type_7|not_specified|O...0.384280.37510.293530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2563667635333174495AG659995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2564667636333174497GGA659740Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2565674864333175793CA659753Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2566675028333175854AG659762Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2567344831333185027GGGAACTA294471BenignOsteogenesis_Imperfecta,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2568344838333185407GA290810BenignOsteogenesis_Imperfecta,_Recessive..0.301921|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2569344843333185798TA293982BenignOsteogenesis_Imperfecta,_Recessive..0.895971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2570344851333186356TC294489BenignOsteogenesis_Imperfecta,_Recessive..0.361020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2571344869333187425GA290109BenignOsteogenesis_Imperfecta,_Recessive..0.319890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2572344875333187831CT290115BenignOsteogenesis_Imperfecta,_Recessive..0.303711|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257389594337030175CA95068BenignLynch_syndrome..0.403950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257489600337034946GA95074BenignHereditary_cancer-predisposing_syndrome|Lynch_.....0.320490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257590024337038771CT95498BenignLynch_syndrome..0.308710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257690146337042960AC95620BenignLynch_syndrome..0.245010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257790227337048633AG95701BenignLynch_syndrome|not_specified..0.309310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257836557337053568AG45219BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.242970.232540.129590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257990366337056990CA95840BenignLynch_syndrome..0.309310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258090368337057591CT95842BenignLynch_syndrome..0.245010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258189615337062040TC95089BenignLynch_syndrome..0.309310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258289611337062959GT95085BenignLynch_syndrome..0.290140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258389625337067050AG95099BenignLynch_syndrome|not_specified..0.246410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258489773337072627AC95247BenignLynch_syndrome..0.25320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258589785337078506AG95259BenignLynch_syndrome..0.245210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258689830337082874TC95304BenignLynch_syndrome..0.262980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258736542337083740AG45204BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.438330.371250.31230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258889983337090274CT95457BenignLynch_syndrome|not_specified..0.303910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258989585337095070CT95059BenignLynch_syndrome..0.396970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2590402987337535984CG389600Benignnot_specified0.520450.572510.532750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2591402989337574951GA389568Benignnot_specified0.543440.572780.55910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2592257468338519424AG251100BenignHeterotaxia|Heterotaxy,_visceral,_4,_autosomal...0.522760.56830.480431|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2593257470338521156TC251101BenignHeterotaxia|Heterotaxy,_visceral,_4,_autosomal...0.441490.485310.356430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2594257467338524742CT251104BenignHeterotaxia|Heterotaxy,_visceral,_4,_autosomal...0.438570.485080.353241|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2595344937338525567TC290945BenignHeterotaxia..0.353440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2596344939338525734CT294052BenignHeterotaxia..0.610220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2597344940338525864AC290157BenignHeterotaxia..0.352240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2598344943338526166CAAC294576BenignHeterotaxia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2599344967338527215TC290957BenignHeterotaxia..0.385780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2600344974338527913CT290185BenignHeterotaxia..0.616210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2601344981338528537GT294662BenignHeterotaxia..0.353240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2602344991338529440CG294205BenignHeterotaxia..0.610820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2603344995338529818CT290974BenignHeterotaxia..0.353240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2604344996338529825CT290975BenignHeterotaxia..0.321880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2605345010338531211TG294237BenignHeterotaxia..0.447280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2606345025338532511GA294684BenignHeterotaxia..0.353240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2607345032338533335AC290212BenignHeterotaxia..0.447280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2608345077338590358CCT294718Likely_benignSick_sinus_syndrome|Long_QT_syndrome|Romano-Wa.....0.316890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2609345092338591059GA291055Likely_benignSick_sinus_syndrome|Long_QT_syndrome|Romano-Wa.....0.114420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2610345108338591689TC294382Likely_benignSick_sinus_syndrome|Long_QT_syndrome|Romano-Wa.....0.494410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
261148307338592406AG57470Benign/Likely_benignArrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...0.431440.387810.492410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2612680772338597558AG659791Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2613680800338598459CT659801Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2614671861338598956AG659799Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2615680771338599037GA659902Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
261648297338622467TC57460Benign/Likely_benignArrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...0.88497.0.923121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2617671859338627629AG659814Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2618671843338627658TTCCC,TCC660041Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
2619678034338628642AG659913Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2620678033338628661CA659809Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
262148289338645420TC38447Benign/Likely_benignArrhythmia|Sick_sinus_syndrome|Long_QT_syndrom....0.221740.230430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2622257437338646423CT251108Benignnot_specified0.184850.219160.175120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2623678604338646625CT659916Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
262448280338647642GT57444Benign/Likely_benignArrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...0.166420.172230.151160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2625671842338647780GC659848Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2626671841338649924TC659919Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2627680765338654971GA659859Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2628671840338663707CT660060Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2629671839338664164TG660066Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2630680768338671474CT659824Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2631678603338671560AG659928Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
263248318338674712TC57481Benign/Likely_benignArrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...0.835960.773670.781751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2633259999338739574TC251110BenignBrugada_syndrome_1|not_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
263495404338739845AG101303Benignnot_specified0.930490.919910.924721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2635669293338749026TA659827Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2636259996338766675AG251113Benignnot_specified0.702520.658560.757990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2637259994338768247GA251115Benignnot_specified0.190070.234960.19050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
263895401338768300TC101300Benignnot_specified0.210290.240930.210660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2639669327338770639CG660090Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2640259993338784029TC251116Benignnot_specified0.697520.653680.757790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2641259992338793989GA251117Benignnot_specified0.203010.243020.207670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2642668846338796985AG659958Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2643259991338798171CT251118Benignnot_specified0.202370.234380.207470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2644669276338798836CT659898Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2645260000338802251AG251119Benignnot_specified0.305710.329870.388780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2646670898338813009TC659844Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2647260336338926912CG251120Benignnot_specified0.637320.55750.599440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2648260335338936134CT251121Benignnot_specified0.2046.0.153550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2649260334338945560AG251122Benignnot_specified0.607410.651450.612420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2650242801339307256CT23191...0.220930.144370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2651721354339307425AG734051Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2652281680339431081GA265917BenignRefractory_anemia_with_ringed_sideroblasts_(cl...0.369750.481990.416131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2653671096339432247CT660003Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2654403583341841716AC389614Benignnot_specified0.877040.851230.870011|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2655403584341925398CT389585Benignnot_specified0.68310.788480.68851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2656403585341925423TC389558Benignnot_specified0.923840.976950.919331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2657403586341937000CT389570Benignnot_specified0.673050.77850.68811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2658403587341938500GC389595Benignnot_specified0.924110.976890.918931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2659403588341939993TA389560Benignnot_specified.0.954640.698081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2660403589341957466TG389621Benignnot_specified0.67557.0.681311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2661403590341960006TC389563Benignnot_specified0.674730.784740.679911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2662403591341996136TC389597Benignnot_specified0.678390.786940.682111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2663226688342728144AG229062Benignnot_specified0.55990.648850.62260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2664682890342733174GC659937Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2665682889342733341TC659874Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2666226689342733468TC229063Benignnot_specified0.805170.816770.899761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2667262104343121559CT251133Benignnot_specified0.804320.786020.782751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2668262102343122966GA251138Benignnot_specified0.38497.0.452481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2669128388343591327GA133837Benign/Likely_benignSpinocerebellar_ataxia,_autosomal_recessive_10...0.055590.047930.036940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2670128387343602803CT133836BenignSpinocerebellar_ataxia,_autosomal_recessive_10...0.55690.65050.663140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2671260993343607136TC251139BenignSpinocerebellar_ataxia,_autosomal_recessive_10...0.526790.684960.636780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2672128386343618280TC133835Benign/Likely_benignSpinocerebellar_ataxia,_autosomal_recessive_10...0.067970.050770.048721|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2673345238343761368ATAGA294528BenignTriglyceride_storage_disease_with_ichthyosis...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2674345240343761441AG290409BenignTriglyceride_storage_disease_with_ichthyosis..0.548720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2675717832344828059CT720454Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2676684236345436473GA660032Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2677684161345459287TG660114Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2678684169345460914TC659941Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2679669494345461483AG660117Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2680684172345517799TC659891Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2681676142345527099CG660132Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2682226691345527218TC229072Benignnot_specified|not_provided0.774180.902570.782951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2683684174345527484TC659950Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2684684176345529865CT659951Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2685226693345533224GA229074Benignnot_specified|not_provided0.77426.0.782751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2686226698345557707GA229079Benignnot_specified|not_provided0.283720.285680.246211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2687226700345559519TC229082Benignnot_specified|not_provided0.851450.951510.849441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2688676144345559621CT659906Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2689226704345565554AG229089Benignnot_specified|not_provided0.868680.957540.860821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2690684184345565865GA660178Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2691676145345583297CT660184Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2692345340345796951CT291372Likely_benignHyperglycinuria..0.24820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2693345349345797785AG290496Likely_benignHyperglycinuria..0.964061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2694345365345798682CTTC291398Likely_benignHyperglycinuria...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2695345374345799126CT291401Uncertain_significanceHyperglycinuria...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2696345387345799871CT294639Likely_benignHyperglycinuria..0.963461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2697345390345799933AG290548Likely_benignHyperglycinuria.0.10.046920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2698345420345817418AG290570Likely_benignHyperglycinuria0.961710.956510.948881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2699345428345837886GC294713Likely_benignHyperglycinuria0.111560.127860.088460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2700345435345959515AT295094BenignCongenital_cataract..0.921731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2701345439345959759TC290594BenignCongenital_cataract..0.409940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2702345443345959999TAT295105BenignCongenital_cataract...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2703345445345960079CA291474BenignCongenital_cataract..0.921731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2704345459345960851CT291505BenignCongenital_cataract..0.399560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2705345469345961842CT295130BenignCongenital_cataract..0.920131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2706345481345962595CG295144BenignCongenital_cataract..0.385580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2707345484345962752TC291519BenignCongenital_cataract..0.81511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2708345486345962802TC294752BenignCongenital_cataract..0.942691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2709345487345962942CT295148BenignCongenital_cataract..0.409740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2710261734345996761GA251149BenignCongenital_cataract|not_specified|not_provided0.770950.792080.867210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2711261722346008790GA251159BenignCongenital_cataract|not_specified|not_provided0.333130.430320.395170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2712261738346009864CG251164BenignCongenital_cataract|not_specified|not_provided0.443180.567010.532950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2713261736346010077CT251166BenignCongenital_cataract|not_specified|not_provided0.83208.0.928121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2714261725346016851AT251167BenignCongenital_cataract|not_specified0.326850.430510.386980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2715261723346021218GT251168BenignCongenital_cataract|not_specified|not_provided0.658080.798930.762981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
27168184346414943TACAGTCAGTATCAATTCTGGAAGAATTTCCAGT23223BenignWest_nile_virus,_susceptibility_to|Resistance_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
271747962346751073TAAGT57126BenignDeafness,_autosomal_recessive_6|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2718345596346944274TC295275BenignMetaphyseal_chondrodysplasia|Chondrodysplasia0.679690.614070.643371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2719260575347033937CT251172Benignnot_specified0.465050.582940.472241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2720260582347043538CT251179BenignGray_platelet_syndrome|not_specified0.452450.565670.471651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2721345670347043730CT291769Conflicting_interpretations_of_pathogenicityGray_platelet_syndrome|not_provided0.0030.005660.00080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2722260584347044122AT251181BenignGray_platelet_syndrome|not_specified0.948860.987350.949281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2723260586347045739CG251183BenignGray_platelet_syndrome|not_specified0.4721.0.472051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2724260588347046842GC251185Benignnot_specified0.556710.561130.546531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2725260589347047176AAG251186Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2726260590347047358AC251187Benignnot_specified0.236570.298210.234030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2727345697347050908AGA294982BenignGray_platelet_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2728436678347103861GTTG,GT428201Likely_benignnot_specified...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
2729135202347125385GA138941Benignnot_specified|not_provided0.47132.0.469851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2730475524347129609GA452755Benignnot_provided0.004310.003480.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2731586533347162661AG576751Benignnot_provided0.644780.63430.678321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2732345769348507667TC291833BenignAicardi_Goutieres_syndrome|Vasculopathy,_retin.....0.114821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2733255115348602523GGGGC251191Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2734255108348624611CT251198BenignDystrophic_epidermolysis_bullosa|not_specified0.475860.357260.430510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2735255107348625266TC251199BenignDystrophic_epidermolysis_bullosa|not_specified0.77364.0.681111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2736255103348628014GA251203BenignDystrophic_epidermolysis_bullosa|Recessive_dys...0.102260.119160.099040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
273792883348897078AG98790Benignnot_specified0.993310.991350.995211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2738683820348900347GA659914Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2739380004349137904GT367668Benignnot_specified0.634020.730370.757991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2740380775349507847GA367325Benignnot_specified..0.582871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2741226558349548008CG229102BenignLimb-girdle_muscular_dystrophy-dystroglycanopa...0.973010.992310.965861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
274231753349548294TC40413Benignnot_specified|not_provided0.973240.992480.965861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
274331754349568095GA40414Benignnot_provided..0.966051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
274431757349570882TC40417not_providednot_provided.0.563870.554111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2745668904349761571GA660047Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2746668902349761605CT660053Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2747668901349761613CT659920Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2748346060350233215TG291130BenignCongenital_Stationary_Night_Blindness,_Dominant..0.323880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2749346062350233317CT295475BenignCongenital_Stationary_Night_Blindness,_Dominant..0.216050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2750346070350234126AG292121BenignCongenital_Stationary_Night_Blindness,_Dominant..0.593850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
27517091350649499AT22130Affects,_risk_factorTuberculosis,_susceptibility_to|Susceptibility.....0.719851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2752478413352378540GC452896BenignSPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...0.035640.035950.030550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2753478430352383340CT452892BenignSPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...0.035650.034650.027760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2754402598352391735AC389573Benignnot_specified0.185070.188170.161140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2755402599352400740GC389631Benignnot_specified0.18652.0.152960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2756478382352426884CT453030BenignSPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...0.03923.0.029950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2757478396352429665CT453316BenignSPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...0.039310.038110.029950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2758402605352430698AG389649Benignnot_specified0.99549.0.996411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2759346111352435860GA292135Likely_benignTumor_susceptibility_linked_to_germline_BAP1_m.....0.028160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2760676905352441606AT660247Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2761671944352488202CT660250Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2762716630352514271CT720568Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2763346142353123032CT292152BenignCongenital_disorder_of_glycosylation..0.718450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2764346143353123079AT295729Likely_benignCongenital_disorder_of_glycosylation..0.169930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2765346172353125297GC295628Likely_benignCongenital_disorder_of_glycosylation..0.166930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2766346174353125429AT295786Likely_benignCongenital_disorder_of_glycosylation..0.147960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2767346175353125469GA291224BenignCongenital_disorder_of_glycosylation..0.650760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2768440191353220000AG433862Conflicting_interpretations_of_pathogenicitynot_provided0.0010.00089.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2769403345353220215GA390582Benignnot_specified0.296710.275740.282150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2770403346353222761CT390583Benignnot_specified0.758270.748050.713460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2771403347353223927CG390584Benignnot_specified0.933490.965470.901961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2772403348353224002TC390585Benignnot_specified0.939260.983480.94051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2773518347353766026TC508788BenignSinoatrial_node_dysfunction_and_deafness0.867060.888670.910941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2774226470353769479CT229117BenignSinoatrial_node_dysfunction_and_deafness|not_s...0.25450.299360.192290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2775346219355500700AG295678BenignRobinow_syndrome,_autosomal_dominant_1..0.06430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2776346220355500924TGT292266BenignRobinow_syndrome,_autosomal_dominant_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2777346223355501002GC291265BenignRobinow_syndrome,_autosomal_dominant_1..0.809511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2778346235355501843CCA292289BenignRobinow_syndrome,_autosomal_dominant_1..0.130590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2779346242355502251GA295824BenignRobinow_syndrome,_autosomal_dominant_1..0.12320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2780346260355503309ATA295848BenignRobinow_syndrome,_autosomal_dominant_1..0.12280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2781402505356591278TTGGGGTAAGCA390507Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2782402630357335876CT389587Benignnot_specified0.576870.618410.665141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2783402631357386148CG390439Benignnot_specified0.193290.299340.277361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2784402632357388114CT390440Benignnot_specified0.556940.536650.586461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2785402633357414071GA389575Benignnot_specified.0.544250.590451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2786402635357414434AG389613Benignnot_specified0.208940.318110.299921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2787402636357419497CT389577Benignnot_specified0.40210.500710.404151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2788402637357430988GA389618Benignnot_specified0.42860.529350.420931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2789402638357431985GA389622Benignnot_specified0.434080.537250.425121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2790402639357443817TC389580Benignnot_specified0.66820.718510.632391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2791402640357456371TC389593Benignnot_specified0.668420.716530.631591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2792402641357469097CT389651Benignnot_specified0.6590.712970.631591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2793402642357475351TG389594Benignnot_specified0.66864.0.633591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2794516749357882601CT500813Benignnot_specified0.210830.295940.299521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2795683067357994719TA660265Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2796670721358063303GC659986Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2797671372358063309GC660063Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2798671375358063331CT659987Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2799683105358108515TC659944Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2800683107358108551TC659947Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2801258106358109162GA251255Benign/Likely_benignnot_specified|FLNB-Related_Spectrum_Disorders0.300630.373220.546130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2802671078358109748TA659949Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2803671079358109772AG659954Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2804671095358111761GA660007Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2805671101358112062GA660009Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2806258110358112440AG251258Benign/Likely_benignnot_specified|FLNB-Related_Spectrum_Disorders0.725590.70790.833270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2807258111358112488CT251259Benign/Likely_benignnot_specified|FLNB-Related_Spectrum_Disorders0.402430.409090.648560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2808671102358116316AG660281Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2809683109358117375TG660013Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2810258114358118555GA251262Benign/Likely_benignnot_specified|FLNB-Related_Spectrum_Disorders0.359990.395170.608230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2811671106358118935AG660107Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2812683137358122160TC660112Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2813258119358145263GA251266Benignnot_specified0.627250.669790.74860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2814258122358154327CT251269Benign/Likely_benignnot_specified|FLNB-Related_Spectrum_Disorders0.336770.38520.571290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2815683176358154671TC660026Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2816683177358156176GA660031Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2817346385358157519GC295902Likely_benignFLNB-Related_Spectrum_Disorders..0.693090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2818346397358413405TC295906BenignPyruvate_dehydrogenase_complex_deficiency.0.488870.367411|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2819346398358413408AG295935BenignPyruvate_dehydrogenase_complex_deficiency..0.18470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2820346399358413465GC292522BenignPyruvate_dehydrogenase_complex_deficiency.0.795020.741811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2821346400358413518TG292523BenignPyruvate_dehydrogenase_complex_deficiency.0.294440.200480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2822346402358413662GA291384BenignPyruvate_dehydrogenase_complex_deficiency.0.408360.367211|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2823346403358413669GT295938BenignPyruvate_dehydrogenase_complex_deficiency..0.204670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2824669536358415263TA660122Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2825129880358416535CT135326BenignPyruvate_dehydrogenase_complex_deficiency|not_...0.066050.283180.204670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2826559256358416538TC549911Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2827669535358417014GA660124Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2828128518363982082GA133967Likely_benignnot_specified0.39069.0.43770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2829346415364079930CT295948BenignProgressive_myoclonic_epilepsy..0.880991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2830346417364079994CT291387BenignProgressive_myoclonic_epilepsy..0.881391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2831346422364080489GA291393Likely_benignProgressive_myoclonic_epilepsy..0.104630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2832346436364081930TA292571Likely_benignProgressive_myoclonic_epilepsy..0.143771/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2833346438364081955TC291405BenignProgressive_myoclonic_epilepsy..0.911941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2834346439364082003GT292572Likely_benignProgressive_myoclonic_epilepsy..0.094850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2835346451364083122AC295958BenignProgressive_myoclonic_epilepsy..0.912141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2836130035364133182GA135481Likely_benignProgressive_myoclonic_epilepsy|not_specified0.068890.065560.054710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2837130137364133350AG135584BenignProgressive_myoclonic_epilepsy|not_specified|E...0.984470.994530.983831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2838162162364705365CT171875not_providednot_provided..0.713260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2839683875366270951GC659999Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2840683876366270961CT660000Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2841683906366396845GA660057Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2842672597366396898GGAAGAGTAGA660333Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2843683910366413111GT660338Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2844683922366413130TA660064Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2845671598366419883TC660033Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2846683936366419956CT655577Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2847683946366427885AG660149Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2848403054366433676AG389634Benignnot_specified0.608570.622750.694490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2849403055366434643TC389637Benignnot_specified0.230280.313310.362220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2850403057366550756GC389598Benignnot_specified0.814790.917030.719851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2851403058366550762GC389599Benignnot_specified0.81160.917870.719851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2852683801369054341TC655578Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2853683791369058783CT660085Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2854346554371004721GGT296049BenignIntellectual_Disability_with_Language_Impairme......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2855346618371007361GT296140BenignIntellectual_Disability_with_Language_Impairme.....0.738620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
285696228371015021GT102122Benignnot_specified0.941260.945180.974641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2857346653371408319CT296189BenignIntellectual_Disability_with_Language_Impairme.....0.12240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2858346667377089395TC296180BenignVesicoureteral_reflux..0.486820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2859346732377696422CT296283BenignVesicoureteral_reflux..0.577881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2860346754377697943GA296295BenignVesicoureteral_reflux..0.683111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2861346763377698442GA296254BenignVesicoureteral_reflux..0.582471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2862346781381539382CT293004BenignGlycogen_storage_disease,_type_IV|Polyglucosan.....0.309111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2863197636381698130TC194797BenignGlycogen_storage_disease,_type_IV|Polyglucosan...0.293220.37460.321490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
286498000387295049TC103892BenignFrontotemporal_dementia|not_specified|not_prov...0.820310.906010.81571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2865346829387308831CT291712BenignFrontotemporal_dementia|Combined_Pituitary_Hor.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2866346833387308904TA291719Benign/Likely_benignFrontotemporal_dementia|Combined_Pituitary_Hor......1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2867346836387308905AT291720Benign/Likely_benignFrontotemporal_dementia|Combined_Pituitary_Hor.....0.175120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2868346871393592569TG296359Likely_benignProtein_S_deficiency..0.760381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2869255811393593119TC251293Benign/Likely_benignProtein_S_deficiency|not_specified|not_provided0.321160.426830.385180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2870128452393768268CG133901Benign/Likely_benignJoubert_syndrome|Joubert_syndrome_8|not_specif...0.086960.100970.077680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2871346944397517118GC296459BenignBardet-Biedl_syndrome|Retinitis_Pigmentosa,_Re.....0.957871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2872769275397594261GA698308Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2873769276397595379GA698309Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2874346955398298600CT293139BenignHereditary_coproporphyria..0.31530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2875346958398298948TTTAAGAA293174BenignHereditary_coproporphyria...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2876346967398299365TG296499BenignHereditary_coproporphyria..0.329870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2877346977398304467TC296501BenignHereditary_coproporphyria0.743890.706520.753991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2878346979398307696TG296470BenignHereditary_coproporphyria|Acute_Porphyria0.238350.174130.245810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28796705873100428460GC655490Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28806707463100439124TGT659417Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28816675503100455139TC659419Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28826707473100455609TGT659422Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28834403333100467018TC433969Benignnot_specified0.655080.699270.713060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28843422773100942033AT291465BenignRetinitis_Pigmentosa,_Recessive..0.81290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28853422993100944076AG291657Likely_benignRetinitis_Pigmentosa,_Recessive..0.135780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28863423023100944224TC287878Likely_benignRetinitis_Pigmentosa,_Recessive..0.137180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28873423083100944932AG287884Likely_benignRetinitis_Pigmentosa,_Recessive..0.137180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28883423163100945245GT291663BenignRetinitis_Pigmentosa,_Recessive..0.81290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28893423243100945433GT287897BenignRetinitis_Pigmentosa,_Recessive..0.838060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28903423373100949842GA291531BenignRetinitis_Pigmentosa,_Recessive0.795480.791060.81290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28913425143111260975CT288051BenignC_syndrome..0.458871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28923425433111356083GC288080BenignC_syndrome0.995390.998820.996611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28933425623111369473AG291866BenignC_syndrome..0.906151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28943425743111370206CT291888BenignC_syndrome..0.941891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28957748463112732195CT697754Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28963425983113858350CT291920Likely_benignHereditary_Essential_Tremor0.95733.0.957871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28975129833113876275GA500408Benignnot_specified..0.588660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2898167703113890815CT31809Likely_benignEssential_tremor,_susceptibility_to|Schizophre....0.656830.513581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28993426203119013558GA288882BenignAdams-Oliver_syndrome..0.303710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29003426223119013603GA288132Likely_benignAdams-Oliver_syndrome..0.009190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29013426393119118104AG291961BenignAdams-Oliver_syndrome.0.9999611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29023426493119128398GA291872BenignAdams-Oliver_syndrome0.157860.170610.18770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29033426583119133183GA291972BenignAdams-Oliver_syndrome|not_specified0.831610.808280.845650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29043426883119136096AAC291989BenignAdams-Oliver_syndrome..0.780350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29053427233119137855AG288237BenignAdams-Oliver_syndrome..0.761180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29062554813120389316TA250852BenignAlkaptonuria|not_specified0.743420.735330.731631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29077800303121208887TG708494Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29083427683121488995CG288275BenignRenal_dysplasia_and_retinal_aplasia..0.621210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29092570923121489439TAT250853Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29102570903121500699CT250855BenignRenal_dysplasia_and_retinal_aplasia|Senior-Lok...0.237040.288930.302721|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29111984443121526204GA195605BenignRenal_dysplasia_and_retinal_aplasia|not_specif...0.652490.627480.620010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29123427843121553852GCTCCCAG292112BenignRenal_dysplasia_and_retinal_aplasia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2913441413121712051AC53309Benignnot_specified0.747810.739450.784941|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2914441453121712805GC53313Benignnot_specified0.30855.0.352040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2915357993121976253GA44463BenignFamilial_hypocalciuric_hypercalcemia|not_speci...0.912350.943710.921931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29161667983122003045GC177553Benignnot_specified0.972010.99160.972841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29171667993122003832GC177554Benignnot_specified0.917810.944630.924121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29183428063122004098AT288311BenignHypocalcemia|Familial_hypocalciuric_hypercalce.....0.920131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29193428093122004218TTA292174BenignHypocalcemia|Familial_hypocalciuric_hypercalce......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29203428103122004612CG292175BenignHypocalcemia|Familial_hypocalciuric_hypercalce.....0.968651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29213428153122005053AG288319BenignHypocalcemia|Familial_hypocalciuric_hypercalce.....0.181510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29223428203122005236TC292050BenignHypocalcemia|Familial_hypocalciuric_hypercalce.....0.533151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29238019973123047666AG790321BenignDyskinesia,_familial,_with_facial_myokymia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29243428233123331143TC292195Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_.....0.444090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29253428453123332186AAT292071Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29263428493123332340GT289127Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection..0.495610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29273428533123332546CG288338Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection..0.351640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29282267713123357037AG228984Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0.197910.218250.37440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29292267703123368013AG228986Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0.224590.230370.396170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29302267643123411589GA228992Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.563360.578320.332671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29311949033123418913GA192065Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.941640.982420.947881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29322267573123440967GA229000Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.90880.972190.913541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29334096953123444833CT393266Conflicting_interpretations_of_pathogenicityConnective_tissue_disorder|not_specified|Cardi...0.000230.00039.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29342267553123451773GC229002Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.998620.999620.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29352267533123452838GA229004Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.574350.656650.632791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29361986063123457893GA195767Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.872440.94450.856231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29373429113123550463GA292179Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_.....0.145970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29383429133123595432GA292298Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection..0.669730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29391001243124449209AG106001BenignOrotic_aciduria|not_provided.0.603410.55910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29401001253124449252TC106002BenignOrotic_aciduria|not_provided..0.461460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29411001263124449291AG106003BenignOrotic_aciduria|not_provided0.528760.596860.56010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29421001283124458816CG106005not_providednot_provided..0.647170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29431001303124462710GC106007not_providednot_provided0.24904.0.242810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29443429423124463657CT289191BenignOrotic_aciduria.0.469560.534550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29453429533124464142CA288466BenignOrotic_aciduria.0.26090.271760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29463429543124464215ATA288468BenignOrotic_aciduria...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29473429653124464642TG288478BenignOrotic_aciduria.0.229270.244810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29483430113124466520CT292236BenignOrotic_aciduria.0.228790.242010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29493430213124467069TG292369BenignOrotic_aciduria.0.938860.962460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29503430273124467209GA289269BenignOrotic_aciduria.0.228730.242610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29513430283124467247CA288507BenignOrotic_aciduria.0.278210.345050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29525080983127323830CT500279Benignnot_specified0.6770.684640.596051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29535080993127336934AG500057Benignnot_specified0.822620.755230.789941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29545397253128200459TC518873Benignnot_provided..0.69011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29552575633128205860GC250906BenignLymphedema,_primary,_with_myelodysplasia|not_s...0.69340.694320.709861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29563431673128532454AG292548Likely_benignCharcot-Marie-Tooth_disease,_type_2..0.051520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29573431893128598469CGTC292405BenignAcyl-CoA_dehydrogenase_family,_member_9,_defic......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29586827333128612113AC659485Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29596779203128612659GC659489Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29606827343128612830CA659490Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29611666343128614133CT177459Benignnot_specified0.580890.54370.658150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29621666353128614185AC177460BenignAcyl-CoA_dehydrogenase_family,_member_9,_defic...0.450250.40180.543330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29636735693128614563TTCTC659496Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29646779233128624772TC659587Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29656779243128625318CT659506Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29661666363128627021AG177461BenignAcyl-CoA_dehydrogenase_family,_member_9,_defic...0.434110.375150.518170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29676779253128627623GA659494Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29683432033128627933CT292606BenignAcyl-CoA_dehydrogenase_family,_member_9,_defic...0.234430.253310.31030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29692622673129195663CT250914Benignnot_specified0.112260.080510.12281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29701949013129210977GC192063BenignCranioectodermal_dysplasia_1|Cranioectodermal_...0.38359.0.536541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29712563833129247551AG250919Benignnot_specified|Congenital_Stationary_Night_Blin...0.379290.28690.528361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29723432863129252685ATA292690BenignCongenital_Stationary_Night_Blindness,_Dominan......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29733433023129253473AG288745BenignCongenital_Stationary_Night_Blindness,_Dominan.....0.520971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29743433033129253486TC289494BenignCongenital_Stationary_Night_Blindness,_Dominan.....0.109631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29752601133129695538CT250924Benignnot_specified0.953020.98680.957671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29762601163129695954TC250926Benignnot_specified0.952830.986990.958071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29772601173129696041AG250927Benignnot_specified0.95260.986730.958071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29786785133131217318GA659606Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29796785123131219070CT659515Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29808013553132360883CT789736Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29816676793132424780AG659519Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29823434223133465283AG288854BenignAtransferrinemia0.575090.622930.666130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2983126173133494354CT27656BenignAlzheimer_disease,_susceptibility_to|Transferr....0.160160.156350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29841287123134225969TC134161Benignnot_specified0.145550.172760.171931|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29851287063134266321AG134155Benignnot_specified0.338380.298620.276760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29862107013134277195AAT207051Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29876833653135968828GC659538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2988932313136002809TC99138Benignnot_specified|not_provided0.168460.160780.109030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29892563763136035737AG250958Benignnot_specified0.38890.304540.286340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29906833763136036226AG659731Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29916833793136047977AG659636Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29924032453138033181CT389543Benignnot_specified0.666920.714180.702081|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29936826373139069523CGC659739Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29946781363139069569TC659742Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29956780103139070112AG659550Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2996936693142168331CT99572Benign/Likely_benignSeckel_syndrome|not_specified|not_provided0.897820.864610.916331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29971364703142178144CT140173Benign/Likely_benignSeckel_syndrome|not_specified|not_provided0.134170.132790.102240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29981579983142215171TC167845Likely_benignnot_specified0.002620.05942.1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29991579973142215178AC167844Likely_benignnot_specified0.61402..1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30006781063142221956AG659595Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30016782043142222074CT659596Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30021579923142222284AG167839Benign/Likely_benignSeckel_syndrome|not_specified|not_provided0.349570.363980.31250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30036704413142230846AG659580Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30046680213142232743AT659675Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30056781053142233990TC659793Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30066781043142234589CA659797Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30071579793142255090TC167826Benignnot_specified|not_provided0.143960.137380.117210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30086680203142271797AC659603Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30096704403142272314GA659681Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30106704393142273032TC659804Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30116782023142274534CT659688Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30121579673142277427AG167814Likely_benignnot_specified0.140190.074520.112221/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30131579663142277536AG167813BenignSeckel_syndrome|not_specified0.345760.35160.31070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30141579653142277575AT167812Benign/Likely_benignSeckel_syndrome|not_specified|not_provided0.6630.552930.598041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30156680193142279796TC659605Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30166800333142280923GGT659690Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30176800323142280925GGT659691Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3018936683142281612AG99571Benign/Likely_benignSeckel_syndrome|not_specified0.662310.553980.597441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30193794543143293012AG368245Benignnot_specified0.294790.288240.340661|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30203436353145787657GA289787Likely_benignBruck_Syndrome..0.120410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30213436433145788467TC289052BenignBruck_Syndrome0.518390.503060.511180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30226749313145788803TC659584Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30236843063145794325TTGCTAAACTAATTTA659585Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30246843043145795419GC659592Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30256749293145795559AG659594Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30262630733145796891TC250976BenignBruck_Syndrome|Bruck_syndrome_2|not_specified0.252270.27090.24840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30276749283145803138TC659805Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30286749273145803142TA659811Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30296749263145804524CA659718Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30306843013145809329TC659719Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30316749253145809750TC659611Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30326842903145810011AC659614Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30336842893145821806AG659816Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30346715123145824025TC659615Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30356749243145824478AG659599Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30366749233145824504GA659600Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30376749223145828256GGT659610Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30386842863145828524GA659818Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30392630743145838895CT250977BenignBruck_Syndrome|Bruck_syndrome_2|not_specified0.782560.766610.781751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30406749213145841854TC659733Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30412567593148459395CT250978BenignRenal_dysplasia|not_specified0.381520.483710.458070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30422567583148459884AG250979BenignRenal_dysplasia|not_specified0.123480.065530.106830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30433436833148460339GT293169Likely_benignRenal_dysplasia..0.057710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30443436863148460700GA289075BenignRenal_dysplasia..0.670731|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30456761303148726933GA659747Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30463799803148727133GA368262Benignnot_specified|not_provided0.294330.312490.301321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30471636683148872987GA173759BenignHermansky-Pudlak_syndrome|not_specified0.513920.456620.490220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30483437363148890344GA289092Likely_benignHermansky-Pudlak_syndrome|Deficiency_of_ferrox.....0.022960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30492848633148899824GC269100Conflicting_interpretations_of_pathogenicitynot_specified|not_provided0.004540.003810.00240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30501989923148916235TA196152Benignnot_specified0.855870.916490.862221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30513438013150644839TG289917Likely_benignRetinitis_pigmentosa-deafness_syndrome|Retinit....0.072250.154750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30523438043150645351GA289139BenignRetinitis_pigmentosa-deafness_syndrome|Retinit....0.603750.777761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30533438053150645408GA289140BenignRetinitis_pigmentosa-deafness_syndrome|Retinit....0.629280.776761|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30546787993150646230AG659832Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30556724253150646279AT659843Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30566787753150661472AT659625Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30576787743150661495TC659617Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30583438183150690566TC289938Likely_benignRetinitis_pigmentosa-deafness_syndrome|Retinit....0.550.469251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30592616333151056598AC250982Benignnot_specified0.878830.87030.911541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30607741723155200461GA697905Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30613438903155572129CT293068BenignSpastic_paraplegia,_autosomal_dominant..0.489421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30626697433158362038GT659759Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30633439193158362441TC293119BenignCombined_oxidative_phosphorylation_deficiency|...0.5990.630180.583070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30643439253158366900GA289259BenignCombined_oxidative_phosphorylation_deficiency_...0.598420.546710.583270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30656697513158371406GA659647Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30666697533158383882TC659894Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30673439383158409262CT290043BenignCombined_oxidative_phosphorylation_deficiency|...0.449090.36570.409150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30683439403158409482CT293575BenignCombined_oxidative_phosphorylation_deficiency..0.583270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30693439463158409947TA293593BenignCombined_oxidative_phosphorylation_deficiency..0.409150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30702155293159976432GGA212292Conflicting_interpretations_of_pathogenicityJeune_thoracic_dystrophy|not_specified|not_pro......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30713440483164764719CA290170BenignSucrase-isomaltase_deficiency0.55943.0.608631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30723440543164773057GA293693BenignSucrase-isomaltase_deficiency0.561970.613760.619011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30733440593164777677TG290175BenignSucrase-isomaltase_deficiency0.560660.613840.617211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30743440653164783165TC289400BenignSucrase-isomaltase_deficiency0.55820.613530.616011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30753440733164786629TAT289414BenignSucrase-isomaltase_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30763440793165490876GGA289421BenignDeficiency_of_butyrylcholine_esterase...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3077132203165491280CT28259Likely_benignButyrylcholinesterase_activity|Deficiency_of_b....0.189120.158550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30785906683167452504AG581313Benignnot_specified..0.285940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30793441183167506937CG293751BenignEncephalopathy,_familial,_with_neuroserpin_inc...0.125560.097930.114220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30803441203167506967AG290239BenignEncephalopathy,_familial,_with_neuroserpin_inc...0.125480.097990.114220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30813441303167510472GA293763BenignEncephalopathy,_familial,_with_neuroserpin_inc...0.125560.098460.115020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30823441373170714435GA290253BenignFanconi-Bickel_syndrome..0.18590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30833441383170714470AT293768BenignFanconi-Bickel_syndrome..0.200680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30841303483170715830GA135795BenignFanconi-Bickel_syndrome|not_specified|not_prov...0.39643.0.37260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30852559003170723276GA251003BenignFanconi-Bickel_syndrome|not_specified|not_prov...0.221970.150140.199280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30861303493170732300GA135796BenignFanconi-Bickel_syndrome|not_specified|not_prov...0.239660.153960.215260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30873441823172161842CA293372BenignShort_stature,_idiopathic,_autosomal..0.81430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30883441863172162117GT289521BenignShort_stature,_idiopathic,_autosomal..0.588660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30893441963172162829GA290310BenignShort_stature,_idiopathic,_autosomal..0.588860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30903441973172162837TC293388BenignShort_stature,_idiopathic,_autosomal..0.819090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30912631093172166033GA251010BenignShort_stature,_idiopathic,_autosomal|not_speci...0.636880.655480.540141|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30926981463172166060GA686364Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30933442043172631512GA289538Uncertain_significanceSpermatogenic_Failure0.018070.020060.009380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30943442163172766822GA293864Likely_benignSpermatogenic_Failure0.174840.158180.171530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30952599573178922274CA251012Benignnot_specified0.669730.56140.584670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30962239073178938153AG225635Likely_benignHereditary_cancer-predisposing_syndrome..0.008190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30973442433180332164GT293875Uncertain_significancePrimary_ciliary_dyskinesia..0.004190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30981628393180334623CT173902Benign/Likely_benignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.18180.176430.131390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30993442673180365043TTA289573Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31001628423180365956GA173763BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.34692.0.318890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31016842103182733547TC659654Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31026842093182735311CT659897Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31036842073182738287GA659663Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31046842063182743267CA659772Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3105959413182755209TG101837Benign3-MCC_Deficiency|3_Methylcrotonyl-CoA_carboxyl...0.584810.624850.464860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31066842053182757178TC659773Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31076842023182759755CT659668Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31086842013182763016CT659679Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31096842003182763580GA659778Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31106841983182775397CT659903Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31116841973182789367TC659783Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3112959433182790249GA101839Benign3-MCC_Deficiency|not_specified0.885340.929740.915541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31138020313182810144TG790368Benign3_Methylcrotonyl-CoA_carboxylase_1_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31143443183182817328CG289643Benign3-MCC_Deficiency..0.544931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3115943813183861243AG100281BenignLeukoencephalopathy_with_vanishing_white_matte...0.328160.349830.389980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31163443433183863084AAGA289663BenignLeukoencephalopathy_with_vanishing_white_matter...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31175183443184039666AG508785BenignParkinson_disease_180.820930.755390.782350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31185183463184045799AG508787BenignParkinson_disease_180.812240.758210.786940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31192177763184071063GC214425Uncertain_significanceLeukoencephalopathy_with_ataxia0.5938.0.461260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31203443693184090266CT289675BenignThrombocythemia_10.67008.0.640580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31213443763184094183AG290439BenignThrombocythemia_1..0.506790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31225950043184910992AG586066Likely_benignnot_specified.0.00019.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
312324353185511687GT17474risk_factorDiabetes_mellitus_type_2..0.388980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3124160453186332571GA31084BenignLeanness,_susceptibility_to..0.677320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3125160433186337713TC31082BenignLeanness,_susceptibility_to.0.683040.735420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3126160443186338382GC31083BenignLeanness,_susceptibility_to.0.676680.713660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31274030213186461524CT389540Benignnot_specified0.02038.0.024160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31287915763187387022TG708725Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31293443793189349247AT294093BenignEctrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos...0.45839.0.487620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31308020343189507518CCAGAG790371Likely_benignEctrodactyly,_ectodermal_dysplasia,_and_cleft_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31312591323189582241TG251052Benignnot_specified0.131480.125420.058511|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31322591333189582249GA251053Benignnot_specified0.19120.132550.219850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31332591243189587091AG251056Benignnot_specified0.3390.231070.31230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31342591283189604149TG251059Benignnot_specified0.77895.0.698881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31352591273189604160TC251060Benignnot_specified0.778950.723170.699481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31363444313189614636CT293560BenignEctrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos.....0.192890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31373694183189615080AG353647BenignEctrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos.....0.151560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31386772183189712010GA655531Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31391953673190030680AG192528Benignnot_specified0.82131.0.81110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31402600043190106242TC251068BenignPrimary_hypomagnesemia|not_specified0.193680.194930.117211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31413444633190128942GA293610Likely_benignPrimary_hypomagnesemia..0.114621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31423444743190129588TA293624BenignPrimary_hypomagnesemia..0.796131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3143957273193334991GA101624BenignDominant_hereditary_optic_atrophy|not_specifie...0.4970.468270.468050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31446677703193335252GT659798Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31456677733193336425TC659917Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3146957283193336639TC101625Benignnot_specified0.426650.423020.392370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31476832603193337021GA659658Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3148957313193355074TC101628BenignDominant_hereditary_optic_atrophy|not_specifie...0.871370.871760.922921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3149957303193355102TC101627Benignnot_specified0.424110.422460.389781/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31506832643193362189GA659826Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31516677723193363163GA659710Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31526762443193363695GA659829Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3153957173193374964TC101614BenignDominant_hereditary_optic_atrophy|not_specifie...0.497160.466820.466450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31546677923193377037GA659833Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31556734773193377173TC659660Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31566762453193409726TC659665Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31573444913193412672AG294191BenignOptic_Atrophy,_Dominant..0.641171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31583444943193412949TC289738BenignOptic_Atrophy,_Dominant..0.913741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31593445003193413502CT289758BenignOptic_Atrophy,_Dominant..0.595851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31603445013193413732AG294193BenignOptic_Atrophy,_Dominant..0.696291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31613445063193414481CT290543BenignOptic_Atrophy,_Dominant..0.43890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31623445123193414733AG289778BenignOptic_Atrophy,_Dominant..0.337860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31633445133193414780TC289784BenignOptic_Atrophy,_Dominant..0.43830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31642598773195594805AG251074Benignnot_specified0.128540.189720.118410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31652598733195595054CT251078Benignnot_specified0.10710.112010.083070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31664033813196199204GT389582Benignnot_specified0.517220.540490.402360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31677775893196613101GA698002Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31687727584493148CG698538Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31694763584509850TC453480BenignMental_retardation,_autosomal_recessive_530.027220.022070.020570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31701674364648643GA177920BenignRetinitis_pigmentosa|not_specified0.998920.999740.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31711674384651287CT177922Benignnot_specified0.043364e-050.015970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31721674394651290CCA177923Benign/Likely_benignnot_specified|Congenital_Stationary_Night_Blin...0.043773e-050.015970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31733494004663908AG260350BenignCongenital_Stationary_Night_Blindness,_Dominan...0.579270.614620.547921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31743494014663916CA293981BenignCongenital_Stationary_Night_Blindness,_Dominan...0.037370.026410.028751/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3175926474980932GA98554BenignMucopolysaccharidosis_type_I|not_specified|not....0.48820.394371/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3176926514980971TG98558BenignMucopolysaccharidosis_type_I|not_specified|not....0.913670.891970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31777106254982720GC721126Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31786806174995035TGCACCCCTATCACCCAGGCCT660380Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
317968017641795321CA660232Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318037938941795557TC367926Benignnot_specified..0.996411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318166790441804377GA660305Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318268017741805296GA660600Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318368017841806834GC660237Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318425889442826400TC251436BenignFibrous_dysplasia_of_jaw|not_specified0.797170.753770.787540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318525889842831383TG251440BenignFibrous_dysplasia_of_jaw|not_specified0.45433.0.466250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318634867642840368AAT298317BenignFibrous_dysplasia_of_jaw...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31871827442906707GT33313drug_responseHypertension,_salt-sensitive_essential,_suscep....0.201870.208470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318867932343465439CT660442Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318967128043465566GC660277Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319026286443475107GA251446Benignnot_specified|not_provided0.22228.0.138780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319126286343475122GA251448Benignnot_specified0.139690.120140.097040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319219659643475252TC193757Benignnot_specified.0.9999911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319367932543478323TC660283Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319468177143478391CA660384Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319567932643487099AG660465Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319667932743487151AG660656Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319726287843487237AG251459Benignnot_specified|not_provided0.712170.758910.781750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319868177243487450GA660286Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319966811943487638GA660289Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320067932943491721TC660291Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320167397443491839AATTCATTCCTTTCTTCACCCC660292Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320268177343494318TG660297Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320368177443494419GA660303Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320426288943494449ACA251466Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320580205044861745CG790475BenignHypoplastic_enamel-onycholysis-hypohidrosis_sy......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320634897645564191AT293698BenignEllis-van_Creveld_syndrome..0.540940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320766787345566748TC660455Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320819554045570161CT192701Benign/Likely_benignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.019540.02610.009580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320966787245576140TC660320Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321067002345616946GC660680Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321126261445617295TC251508Benignnot_specified0.358140.343180.426120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321267001045620649CT660681Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321326261345624223CT251509Benignnot_specified0.10580.054550.088060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321426261045624670TC251512BenignEllis-van_Creveld_syndrome|not_specified0.445950.370590.517570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321567196445633205GA660324Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321667196345633236AG660515Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321766999945633995CT660464Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321867498845642141CT660519Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321919376345642274TC190926BenignEllis-van_Creveld_syndrome|not_specified0.294940.197830.230031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322067515545642612CG660525Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322166999645642756TC660526Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322266787145664656AT660466Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322366787045665261AC660696Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322466786945665303AC660340Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322566786845666960CT660534Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322666786645667671TC660342Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322766786545682740TA660345Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322866999245686924GA660717Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322966998645686967CT660719Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323066786445690584CT660494Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323166786245691199CT660720Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323266786145691320AC660512Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323366784545693359CT660513Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323466784445695770CG660349Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323566997545699097GA660560Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323626261845710189GA251523BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome....0.16510.218650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323743966845713312GC433536Benignnot_specified..0.18690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323866993245721313CT660568Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323967508445730954GA660350Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324019828145743509CT195442BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.95490.945620.966651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324119828245743512TC195443BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.706940.795060.744811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324266783445746620TC660725Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324326278245746916CT251530BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome....0.584250.590061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324426278445747078AG251533BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.700220.629460.593051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324566783545747292CT660726Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324626278645749904TC251534BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.405660.417690.471450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324726276145749961GC251536BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.532450.491990.582870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324826276245750003AG251537BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.27380.292470.217450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324966993445750156AG660520Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325066994845754355CT660571Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325166783745754396GC660361Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325226276445754544TC251539Benignnot_specified0.373650.399990.321490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325366783845755292GA660364Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325466995045755373GC660582Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325516704445755542CA177093BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.85261.0.844651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325666995445755837TA660583Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325726276845785442GA251543BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.30801.0.301520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325866784145785697CG660528Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325926276945795412CT251544BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.22185.0.333870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326066784245795616CA660371Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326166996045795697CT660590Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326266996545795710GA660548Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326326277345803633CT251547Benignnot_specified0.253420.363880.339860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326426277445803669TC251548BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.721740.727010.69050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326526277545803829ACA251549Benign/Likely_benignEllis-van_Creveld_syndrome|Curry-Hall_syndrome......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326667127545806789AG660615Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326726277845812195AG251551Benignnot_specified0.717970.745360.69070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326826275945812778GA251552BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.612790.609940.533750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326934923645813695TC293865BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome..0.43690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327034925845814607CTC299022BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327134926645815032GA299044BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome..0.270170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327234927245815181TC299053BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome..0.723040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327334927645815381GA299061BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome..0.387580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327434928045815477CT299063BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome..0.385180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327568434046271416GT660618Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327667643746279504GA660622Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327768434146292643GC660387Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327867028746292716GC660744Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327967028846292755CCAGGGGCATG660748Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328067028946292758GGCA660393Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
32814545946292909CT54626Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.616330.651260.715061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3282452746292915AG19566BenignDiabetes_mellitus,_noninsulin-dependent,_assoc...0.62540.655460.728831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328368434246293350TC660576Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328467029046293446TC660766Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328567029846293474AG660578Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
32864546046293696CG54627Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.678060.72120.756391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328767029946293919CG660768Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328867030046293967GA660632Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328968434446294001AG660771Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329068434646295427CG660772Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329168434746295451AG660584Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329268434846295565CT660634Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329368434946295583CA660395Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3294452846295693CG19567BenignDiabetes_mellitus,_noninsulin-dependent,_assoc.....0.721251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329566959646295750AG660398Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329668435146295985GA660413Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329767319746296447GT660780Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329867030146302199CT660418Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329967030246302220CG660598Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33004546346302519GA54630Benignnot_specified|WFS1-Related_Spectrum_Disorders0.799320.78180.884391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33014543146302707CT54598Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.553050.624520.641571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33024543746303022CT54604Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.632320.65950.729431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33034544246303354GA54609BenignDiabetes_mellitus_AND_insipidus_with_optic_atr...0.40120.53670.469251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33044545546303955GA54622Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.56589.0.653161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33054545646304087AG54623Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.71175.0.779951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
330634933246304242TC299132Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.717820.724750.783751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
330734933546304286CT295328BenignWFS1-Related_Spectrum_Disorders|Nonsyndromic_H.....0.848041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
330834933746304344GA293945BenignWFS1-Related_Spectrum_Disorders|Nonsyndromic_H.....0.606631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
330934935446304799GC299157BenignWFS1-Related_Spectrum_Disorders|Nonsyndromic_H.....0.62621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331034935946304878CT293961BenignWFS1-Related_Spectrum_Disorders|Nonsyndromic_H.....0.647561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331166951548869587TC655616Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331235020749909923GA296326BenignFamilial_renal_hypouricemia0.37936.0.271171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331335021349922130CT300090BenignFamilial_renal_hypouricemia0.149390.245950.294130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331435023549982330AG300158BenignFamilial_renal_hypouricemia0.7292.0.75241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3315459449994215CT19633associationUric_acid_concentration,_serum,_quantitative_t.....0.857631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331635023749998440CT300168BenignFamilial_renal_hypouricemia0.72713.0.642171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331735024049998493AG300170BenignFamilial_renal_hypouricemia0.782330.801530.820691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3318347006410022981CT296520BenignFamilial_renal_hypouricemia0.428260.510340.407351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3319402544410502937TG389584Benignnot_specified0.991430.997640.990021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3320402545410586571GA389605Benignnot_specified0.045370.043870.025960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3321668061415480073TC660189Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3322126233415482477AG131765Benignnot_specified0.856470.86020.850241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3323126230415538744TG131762Benignnot_specified0.748690.749410.74820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3324126231415539498AG131763Benignnot_specified0.532680.596780.486020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3325126236415568992TC131768BenignJoubert_syndrome|Meckel-Gruber_syndrome|not_sp...0.701590.712180.662541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3326126239415569146AC131771Benignnot_specified0.70314.0.662341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3327126243415587897AT131775Benignnot_specified0.95780.987510.948881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3328257382415603069GC251363Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|not_sp...0.580950.605320.566891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
332995334415982166AG101233Benignnot_specified|Stargardt_Disease,_Dominant|Cone....0.360790.446891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3330677210415986042GA660365Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3331677208416002050TC660207Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3332259907416020162CT251366Benign/Likely_benignnot_specified|Stargardt_Disease,_Dominant|Cone...0.083810.173570.138180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3333677178416024885AG660370Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3334348137417488064TC297721BenignBH4-Deficient_Hyperphenylalaninemia..0.6260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3335348138417488072TC294253BenignBH4-Deficient_Hyperphenylalaninemia..0.659550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3336348141417488244GA297793BenignBH4-Deficient_Hyperphenylalaninemia..0.658550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3337348142417488286TG292890BenignBH4-Deficient_Hyperphenylalaninemia..0.659150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3338348150417488533CATG292897Uncertain_significanceBH4-Deficient_Hyperphenylalaninemia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3339348163417513724GC297814BenignBH4-Deficient_Hyperphenylalaninemia0.36520.505670.37560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3340348165417513757CGC292915Likely_benignBH4-Deficient_Hyperphenylalaninemia..0.181911|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3341784037420760520AG779201Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3342348522425122859TC293254Likely_benignPontoneocerebellar_hypoplasia..0.115820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3343130288425125703CG135735Benign/Likely_benignPontoneocerebellar_hypoplasia|not_specified0.07690.066790.112220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3344403456425678199AG389591Benignnot_specified0.875980.864260.910741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3345444124426336243CT437747BenignDiabetes_mellitus_type_2..0.478440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3346444136426352363TG437748BenignDiabetes_mellitus_type_2..0.729230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3347444128426385335GA437751BenignDiabetes_mellitus_type_2..0.554310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3348444125426414770GC437755BenignDiabetes_mellitus_type_2..0.465260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3349444126426446006GA437757BenignDiabetes_mellitus_type_2..0.595250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3350444135426451697GA437758BenignDiabetes_mellitus_type_2..0.536140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33518360438798648CA23399protectiveLeprosy,_protection_against.0.538920.800520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33528361438799710TC23400risk_factorLeprosy_50.427950.392140.574680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3353287684439236493CT271921Conflicting_interpretations_of_pathogenicityJeune_thoracic_dystrophy|Cranioectodermal_dysp...0.001690.00210.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3354261862439259190AG251483Benignnot_specified0.325150.371050.281150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3355811530439276623AAG799356Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3356348762439287322CT298475BenignJeune_thoracic_dystrophy|Cranioectodermal_dysp.....0.488621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3357669810439472556CCCAAA660484Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3358670681439472796TA660399Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3359138117439472842TA141820Benignnot_specified0.292020.365450.336860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3360683095439473114CT660307Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3361683097439473167GC660308Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3362683116439473170GA660404Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3363674123439473180TC660406Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3364674124439473186GA660309Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3365674137439473195GA660414Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3366670682439474868GA660431Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
336712298441259633CA27337BenignParkinson_disease_5|Parkinson_Disease,_Dominant.0.350210.253990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3368348787441746460CT298516BenignNeuroblastoma|Congenital_central_hypoventilation..0.424320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3369348788441746477TC294839BenignNeuroblastoma|Congenital_central_hypoventilation..0.052320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
337043888442965159AC53057Benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.82518.0.855030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3371348826443032612GA298554Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.536140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3372775217446388119GA698523Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3373348845447954624CT298617Uncertain_significanceRetinitis_Pigmentosa,_Recessive0.013940.012170.005190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3374517097448012817GA500531Benignnot_specified..0.112220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3375178775454310281TG173814Benignnot_specified0.571370.592120.466651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3376259949455141055AG251495BenignGastrointestinal_stroma_tumor|Idiopathic_hyper...0.958870.988040.957671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3377259952455161254CT251498Benignnot_specified0.735810.802090.699081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3378259953455161391TC251499BenignGastrointestinal_stroma_tumor|Idiopathic_hyper...0.996770.998990.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3379348913455161517AG298643BenignGastrointestinal_stroma_tumor|Idiopathic_hyper.....0.997011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3380348921455162271TC298654Likely_benignGastrointestinal_stroma_tumor|Idiopathic_hyper.....0.030750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3381348925455162534GTTTG,GT298660Uncertain_significanceGastrointestinal_stroma_tumor|Idiopathic_hyper......1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
3382348930455162950CA294981BenignGastrointestinal_stroma_tumor|Idiopathic_hyper.....0.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3383348943455163826TG293573BenignGastrointestinal_stroma_tumor|Idiopathic_hyper.....0.987621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3384518355455948108AG508794BenignHemangioma,_capillary_infantile0.997620.998560.996811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3385134603455972974TA138342not_providednot_specified0.193910.219830.211860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3386134616455979558CT138355not_providednot_specified0.14270.108930.152560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3387349002456212404CG295041Uncertain_significanceCongenital_disorder_of_glycosylation..0.008990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3388676204456235860TC660677Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3389676206456235931CG660451Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3390349009456236328CT293625Likely_benignCongenital_disorder_of_glycosylation..0.267571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3391349019456236804GA293640Likely_benignCongenital_disorder_of_glycosylation..0.267571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3392349022456237137CT298694Likely_benignCongenital_disorder_of_glycosylation..0.267371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3393349024456237327GA298695BenignCongenital_disorder_of_glycosylation..0.68871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3394349033456238263TC298714Likely_benignCongenital_disorder_of_glycosylation..0.269171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3395349043456238626GA295072Likely_benignCongenital_disorder_of_glycosylation..0.267571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3396349047456238847GA293667BenignCongenital_disorder_of_glycosylation..0.751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3397193395456262374AG190559BenignCongenital_disorder_of_glycosylation|not_speci....0.772140.755191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3398349072456292101AT298767Likely_benignCongenital_disorder_of_glycosylation..0.209671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3399128696456874517AC134145Benignnot_specified0.210780.209460.139180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3400349460468620277TC299265BenignIsolated_GnRH_Deficiency..0.981031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3401349468468620957TC299275Likely_benignIsolated_GnRH_Deficiency..0.466251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3402349475468621197AG295504Likely_benignIsolated_GnRH_Deficiency..0.441691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3403349477468621308AG299286Likely_benignIsolated_GnRH_Deficiency..0.466851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3404349478468621332CT295507Likely_benignIsolated_GnRH_Deficiency..0.465861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3405349482468621550GA299291Likely_benignIsolated_GnRH_Deficiency..0.466051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3406349483468621585CAC299297Likely_benignIsolated_GnRH_Deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3407225966469536084AC227750drug_responseoxazepam_response_-_Other|lorazepam_response_-...0.502460.502390.546531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3408349489471494619GA299321BenignAmelogenesis_Imperfecta,_Dominant..0.238420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3409349499471508869TC295533Likely_benignAmelogenesis_Imperfecta,_Dominant0.042830.013850.039340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3410349513471510836CG295535BenignAmelogenesis_Imperfecta,_Dominant..0.226240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3411349520471511259GC299348BenignAmelogenesis_Imperfecta,_Dominant..0.241610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3412349540472313411CT299360Likely_benignRenal_tubular_acidosis,_proximal,_with_ocular_...0.019380.042010.035140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3413349565472433879GC295591BenignRenal_tubular_acidosis,_proximal,_with_ocular_.....0.888181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3414349571472434406GC299410BenignRenal_tubular_acidosis,_proximal,_with_ocular_.....0.287940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3415349598472436235AG299412BenignRenal_tubular_acidosis,_proximal,_with_ocular_.....0.620611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
341615986472618323GT31025BenignGC1/GC2_POLYMORPHISM..0.207870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
341715987472618334AC31026BenignGC1/GC2_POLYMORPHISM.0.51590.381591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3418748886473185600CT749057Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3419430719473942678CT424258associationLip_and_oral_cavity_carcinoma0.121940.170920.176520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3420349639474285239CT299444Likely_benignHyperthyroxinemia,_dysalbuminemic0.51830.535380.483430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3421669877477097336CT660783Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3422670734477134870GA655614Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3423772868477676309AC698634Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3424261821478987157AG251564BenignFraser_syndrome_1|not_specified0.487420.456260.551520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3425518357478989716TC508796BenignFraser_syndrome_1.0.270010.287740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3426261808479186171GA251566BenignFraser_syndrome_1|not_specified0.935560.974090.922131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3427194790479238649TC191953BenignFraser_syndrome_1|not_specified0.79778..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3428261804479240063AG251568BenignFraser_syndrome_1|not_specified0.4114.0.434310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3429261813479387464AG251576BenignFraser_syndrome_1|not_specified0.969510.990120.967651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3430349752479387586AG299519BenignFraser_syndrome_10.208270.311960.31371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3431261814479391256TC251577BenignFraser_syndrome_1|not_specified0.955290.986690.956071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3432261817479420864TC251580BenignFraser_syndrome_1|not_specified0.510380.508630.593850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3433261818479420870CG251582BenignFraser_syndrome_1|not_specified0.48065.0.591650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3434349790479432455AC295831BenignFraser_syndrome_10.296240.32680.404550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3435349802479440589CT299604Likely_benignFraser_syndrome_10.018990.020570.014780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3436349805479442799GTG294360BenignFraser_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3437261798479443850GA251588BenignFraser_syndrome_1|not_specified0.536890.547090.510980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3438261801479455714CG251590BenignFraser_syndrome_1|not_specified0.404990.488420.514980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3439261802479455733CT251591BenignFraser_syndrome_1|not_specified0.405170.488420.514980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3440547870479461956TC538370Uncertain_significanceFraser_syndrome_10.013860.013230.007790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3441349829479462560AT299624BenignFraser_syndrome_1..0.202280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3442349856479464432CT299659BenignFraser_syndrome_1..0.661740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3443349861479464767TC295929BenignFraser_syndrome_1..0.661740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3444349864479464978GA299682BenignFraser_syndrome_1..0.640380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3445349866479465100AATTTT299685BenignFraser_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3446349874480905990CG295946BenignHyaline_fibromatosis_syndrome0.71018.0.802720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3447349882480977078TG294465BenignHyaline_fibromatosis_syndrome0.58745.0.697280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3448349890480993796GT294483BenignHyaline_fibromatosis_syndrome..0.37720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3449349897480994124CT294488Likely_benignHyaline_fibromatosis_syndrome..0.142570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3450128830484188850GA134279Benign/Likely_benignCoenzyme_Q10_deficiency,_primary_1|not_specifi...0.220840.278790.210260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3451683554484190749AG660668Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3452128829484191031AG134278BenignCoenzyme_Q10_deficiency,_primary_1|not_specifi...0.736850.738030.778160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3453226000484192168GC227830drug_responseatorvastatin_response_-_Toxicity/ADR|hmg_coa_r.....0.660140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3454683553484193572AG660443Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3455683548484194328TTATAC660446Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3456128828484205872CA134277BenignCoenzyme_Q10_deficiency,_primary_1|not_specifi...0.685190.724890.649760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3457136978484206004TA140681Benign/Likely_benignCoenzyme_Q10_deficiency,_primary_1|not_specifi...0.0168.0.009980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3458349919486936468AG296014BenignEpileptic_encephalopathy..0.194290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3459349928486937096AC299748BenignEpileptic_encephalopathy..0.452880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3460349933486937588GC296030BenignEpileptic_encephalopathy..0.452680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3461349939486937874CT296037BenignEpileptic_encephalopathy..0.215460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3462349954487024409TC299820BenignEpileptic_encephalopathy0.538750.658060.593450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3463260356488533441TC251593Benignnot_specified0.431430.516170.471451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3464260355488533445TC251594Benignnot_specified0.228780.258550.218651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3465740806488533815TC749100Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3466260359488534235AG251597Benignnot_specified0.647730.628170.674321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3467260353488537737GA251599Benignnot_specified0.884760.794280.855431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3468598009488767008GA589070Benignnot_specified0.134860.181080.172320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
346992795488929305GA98702Benign/Likely_benignPolycystic_kidney_disease,_autosomal_dominant|....0.062520.114420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3470440143488959381GA432996BenignPolycystic_kidney_disease_20.659390.603930.696291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3471219985488989089AC221479Benign/Likely_benignPolycystic_kidney_disease_2|not_specified|not_...0.004380.004810.005790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3472350035488997073GGA299900Likely_benignPolycystic_kidney_disease,_autosomal_dominant...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3473350037488997102CT296123Likely_benignPolycystic_kidney_disease,_autosomal_dominant..0.193091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3474350045488997876GA296126Likely_benignPolycystic_kidney_disease,_autosomal_dominant..0.098640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
347530389489052323GT39346drug_responseallopurinol_response_-_Dosage,_Efficacy|Ovaria...0.08450.118020.119410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
347630386489061114CT39343Affects,_associationUric_acid_concentration,_serum,_quantitative_t...0.045520.107580.157550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3477350093490646886GA299919BenignParkinson_Disease,_Dominant..0.484231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3478350131496075965CT296235BenignBrachydactyly|not_provided..0.404151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3479350133496076020AG299987BenignBrachydactyly..0.592851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3480350135496076113CCT300008Uncertain_significanceBrachydactyly...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3481350147496076813AG300021BenignBrachydactyly..0.579271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3482350152496077383AG300020BenignBrachydactyly..0.593451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3483350167496078174CT300040BenignBrachydactyly..0.383591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3484350171496078600AG300043BenignBrachydactyly..0.384391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3485350174496079045TC300046BenignBrachydactyly..0.384781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3486350175496079079CG296278BenignBrachydactyly..0.120610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3487181804100260789TC33219protectiveAlcohol_dependence.0.344390.214260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3488181794100263965CT33218protectiveAlcohol_dependence.0.342470.214260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34894023444100268190AC389612Benignnot_specified.0.984840.992811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34903470084100485244GC294755BenignAbetalipoproteinaemia.0.215370.19071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34913470094100485255GA300160BenignAbetalipoproteinaemia.0.331910.251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3492142424100504664TC29281BenignAbetalipoproteinaemia|Metabolic_syndrome,_prot....0.250440.24981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34933470524100544284CG294800Uncertain_significanceAbetalipoproteinaemia..0.010380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34943470624100545051CG296412BenignAbetalipoproteinaemia..0.68771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
349512694102751076GA16308Uncertain_significanceSystemic_lupus_erythmatosus,_association_with..0.218450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34963470654103552709CT296563BenignBeta-D-mannosidosis..0.550320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34973470674103552813CT291851BenignBeta-D-mannosidosis..0.550320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34983470684103552830GA293217BenignBeta-D-mannosidosis..0.550320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34993470744103553053GA296580BenignBeta-D-mannosidosis..0.550320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35003470754103553090AG293223BenignBeta-D-mannosidosis..0.550320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35013470774103553372CT296534Benign/Likely_benignBeta-D-mannosidosis|not_provided0.012920.013130.006390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35024030704103553447GAG389604Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35036674824103553543CT660176Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35046674814103553665GA660177Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35056674804103555619CG660388Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35066674784103555676TC660062Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35076674774103555803GC660390Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35086674764103555821GA660067Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3509953204103555992AG101219BenignBeta-D-mannosidosis|not_specified|not_provided0.548440.532960.549720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35106674754103556316TC660181Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35116674744103556367GGT660183Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35126674734103556462GC660152Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35136674724103556861TC660392Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3514953194103557077GA101218BenignBeta-D-mannosidosis|not_specified|not_provided0.54844.0.549120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3515953184103557192CT101217Benignnot_specified|not_provided0.548750.533680.549120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35166674704103557219CT660160Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35176674694103557251GA660185Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35186674684103557311GC660187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35193471044104510766GA296542Likely_benignIsolated_GnRH_Deficiency..0.550321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35208020814107168431GC790428BenignHypotonia,_infantile,_with_psychomotor_retarda......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35216707124108853592AG660075Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35223777664108868515TC367432Benignnot_specified0.62886.0.650960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35231671624108931039TC177759Benignnot_specified0.849450.915050.869011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35247679694110384047GGCTTTT777405Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35251621644110590479GT171877not_providednot_provided..0.784551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35263694344110661835TC353663BenignAtypical_hemolytic_uremic_syndrome.0.01070.032751|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35273471434110661937GA293307BenignAtypical_hemolytic_uremic_syndrome.0.988170.953671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35283471674110681505CT293323BenignAtypical_hemolytic_uremic_syndrome0.294170.283720.31210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35293471704110685679AT296651Likely_benignAtypical_hemolytic_uremic_syndrome0.014690.004810.011180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35303471954110791361GA296675BenignCongenital_Stationary_Night_Blindness,_Recessive0.17361.0.24860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35313471964110791413CT291932BenignCongenital_Stationary_Night_Blindness,_Recessive0.173540.195110.258990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35323471974110791453TC296667BenignCongenital_Stationary_Night_Blindness,_Recessive0.127630.037990.117410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35333471984110791543CT293357BenignCongenital_Stationary_Night_Blindness,_Recessive0.173610.195040.24880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35343472034110792443GC296699Likely_benignCongenital_Stationary_Night_Blindness,_Recessive..0.034150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35353472064110792629AG291943BenignCongenital_Stationary_Night_Blindness,_Recessive..0.777761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35363472134110793139TA296678Likely_benignCongenital_Stationary_Night_Blindness,_Recessive..0.046331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35372259984110834110AG227748drug_responsecetuximab_response_-_Efficacy|Renal_Hypomagnes.....0.605230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35383472344110883121GA296701BenignRenal_Hypomagnesemia,_Recessive0.123790.098460.165340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35397809334110895923AG709124Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35403472424110901147AG293436BenignRenal_Hypomagnesemia,_Recessive0.031450.047670.106030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35413472454110901198GA293437BenignRenal_Hypomagnesemia,_Recessive0.525140.465840.617810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35423472484110908933TC296755Likely_benignRenal_Hypomagnesemia,_Recessive0.036750.011630.033150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35433472524110914427AT292005BenignRenal_Hypomagnesemia,_Recessive0.848920.840670.920531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35443472734110933094CT293454Likely_benignRenal_Hypomagnesemia,_Recessive..0.030350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35453472784110933523GTTG292021Uncertain_significanceRenal_Hypomagnesemia,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35463472834110933855TC293461BenignRenal_Hypomagnesemia,_Recessive..0.425520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35476721774113825869TC660162Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35486832324114153062AT660082Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35496832354114159052AC660213Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35506718904114171154AG660168Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35516784454114199312CT660097Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35526718914114209350CT660432Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35536710074114267023GA660452Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35543473734119201531GTTG296847BenignIntellectual_Disability,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35551300414119237348TC135487Benignnot_specified|Intellectual_Disability,_Recessive0.523910.554670.545330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35561300424119273712CG135488Benignnot_specified|Intellectual_Disability,_Recessive0.550120.654340.492211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35577711454119736626GC698349Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35586728254120071926TC660267Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35596711394120072233GC660141Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35606711404120072238AG660151Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35616711414120072275GC660483Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3562317874120079159AG40447BenignFamilial_hypertrophic_cardiomyopathy_16|not_sp...0.589340.649430.546330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35636711424120079387GA660157Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35646743454120106982TC660269Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3565457864120107098GGT54951Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35663474224120108603GA296893Likely_benignHypertrophic_cardiomyopathy..0.287340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3567164944120241902TC31533BenignFATTY_ACID-BINDING_PROTEIN,_INTESTINAL,_POLYMO....0.726060.746610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35686837114121676080AC660211Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35696837104121702011GC660504Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35703474374121706201AG293600BenignBrittle_cornea_syndrome_1|not_specified0.199830.211550.137380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35716837094121719113CT660284Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35723474404121719584TTA292165BenignBrittle_cornea_syndrome_1|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35736837084121732251CG660287Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35746837274121737288GA660212Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35753474444121738049TC296920BenignBrittle_cornea_syndrome_1|not_specified0.281250.291170.274961|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35763474454121738070CT296926Benign/Likely_benignBrittle_cornea_syndrome_1|not_specified0.024070.024490.010181|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35773474714122746285TCT296948BenignBardet-Biedl_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35783474764122746596AT296957BenignBardet-Biedl_syndrome..0.276760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35792629224122749436GT251316BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.77539.0.81210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35803474914122791601GC292191BenignBardet-Biedl_syndrome..0.301320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35814029754123536963GA389654Benignnot_specified0.765340.743360.840461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35823474944123653926GA292197Likely_benignBardet-Biedl_syndrome..0.139181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35831667254123664204GA176959BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.413810.414030.506391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35842626694123664247GA251326BenignBardet-Biedl_syndrome|not_specified|not_provided0.106110.037590.092650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35851667264123664427GC177507Benign/Likely_benignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.174920.172760.094651|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35861667274123664446GA177222Benign/Likely_benignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.172610.169560.092651|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35871667284123664457CT177508Benign/Likely_benignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.208140.186830.121011|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35881667304123664919AG177510Benign/Likely_benignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.171380.169330.091851|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35893475084123665366TTA293633Likely_benignBardet-Biedl_syndrome..0.131990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35903475134123665991CG293643BenignBardet-Biedl_syndrome..0.544131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35915866744123868279GT576773Benignnot_provided..0.743411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35922035224123949556GA199933Benignnot_provided0.89520.916690.878591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35933807934126240510TC367834Benignnot_specified0.765950.701160.721051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35943808184126241253GC367553Benignnot_specified0.112410.092130.06430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35953808824126241335CG367878Benignnot_specified0.038350.085170.108630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35963778554126241871CT367841Benignnot_specified0.754360.697410.711261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35976681374126328562TC660218Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35983802504126329789TC367846Benignnot_specified0.990540.996590.988421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35993807944126336703TC368957Benignnot_specified0.133020.177610.204670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36006681384126355844TA660219Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36016681394126367986CT660170Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36023807954126369872GC367556Benignnot_specified0.99239.0.990821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36033808134126372742GA367890BenignVan_Maldergem_syndrome_2|not_specified0.220670.267330.230630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36043807974126373789GA367898BenignVan_Maldergem_syndrome_2|not_specified0.992470.997770.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36056801454126384595CT660543Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36066801464126384905AC660295Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36076801474126390181CT660221Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36086681404126397056CT660298Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36093807994126397321CT368992Benignnot_specified0.395970.37450.337860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36106681414126401326TC660306Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36116801544126402921TG660175Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36126801574126408980AT660227Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36136816914126408988GC660312Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36143808024126412575AG367599Benignnot_specified0.74420.756860.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36153475524140375145GC292257BenignSmith-McCort_dysplasia..0.170930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36163475584140375296CG292267BenignSmith-McCort_dysplasia..0.171330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36173475754140394875GA292269Likely_benignSmith-McCort_dysplasia..0.103830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36183475824140395583CT292290BenignSmith-McCort_dysplasia..0.158950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36193475844140395683CA292299Likely_benignSmith-McCort_dysplasia..0.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36203475934140396931CA293742BenignSmith-McCort_dysplasia..0.227040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36216675014146567584TG660188Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36226675024146574977TC660553Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36233476474146579194TC292365BenignMethylmalonic_acidemia..0.565690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36243476524146579354AT297183BenignMethylmalonic_acidemia..0.565690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36253476554146579452AG297184BenignMethylmalonic_acidemia..0.274160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36263476734149000024CT297192BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.716250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36273476954149001085TC292417BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.553510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36282568284149356516AG251336BenignPseudohypoaldosteronism_type_1_autosomal_domin...0.89812.0.891971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36292568324149357475CT251337BenignPseudohypoaldosteronism_type_1_autosomal_domin...0.897590.881160.891971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36302568274149358014GC251338BenignPseudohypoaldosteronism_type_1_autosomal_domin...0.397430.551050.50080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36314030474151199080GA389609Benignnot_specified0.194990.202770.142170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36324030484151207127CT389652Benignnot_specified0.223210.277260.162140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36334731874151242333CG452979Benignnot_provided0.025450.00770.023161|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36344398694151242409TG433673Conflicting_interpretations_of_pathogenicityCommon_variable_immunodeficiency_8,_with_autoi...0.006770.004630.0020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36354030504151719263AG389662Benignnot_specified0.175080.184150.120811|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36364731784151753133GAG453283BenignCommon_variable_immunodeficiency_8,_with_autoi......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36371961334151765243GA193294Benignnot_specified0.835770.856910.7530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36383477824155492224AC293907BenignAfibrinogenemia,_congenital..0.213661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36393477874155492421TC292488BenignAfibrinogenemia,_congenital..0.923521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36403477994155493352CT292505BenignAfibrinogenemia,_congenital..0.213261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36413478244155511897TC297315BenignFamilial_visceral_amyloidosis,_Ostertag_type|A...0.64805.0.642971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36423479114157997377TC297419BenignHyperekplexia..0.473640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36433479174158043559CT297477BenignHyperekplexia0.43674.0.491210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36443479244158073913TC297500BenignHyperekplexia0.04890.047290.06210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36453479324158092040GA292659BenignHyperekplexia..0.068490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36463479404158092422TA297437BenignHyperekplexia..0.471450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36473479434158092733TC292668BenignHyperekplexia..0.086260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36483479484158093061CT297452BenignHyperekplexia..0.086060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3649950754159601676CT100975BenignGlutaric_aciduria,_type_2|not_specified|not_pr...0.656570.811920.672721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36506761224159603110AG660362Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36516839844159611841AAAAG660570Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36526801234159617019CT660363Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36533754834164007820AG362288associationChronic_osteomyelitis..0.806911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36547692964165800154TC698419Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36553480204169418267AT292720BenignCarcinoma_of_pancreas..0.406750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36561280994169632959CT133556Likely_benignCarcinoma_of_pancreas|not_specified|not_provided0.001230.00154.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36571827934169799448AG180160Benignnot_specified|not_provided.0.646430.478631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36581827954169846359GCTG180162BenignHereditary_cancer-predisposing_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36593480484169847646TAT294114BenignCarcinoma_of_pancreas...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36603480694169849389CG297578BenignCarcinoma_of_pancreas..0.568091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36613480724169849477TAT292770BenignCarcinoma_of_pancreas...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36623480834170315166AG294152BenignShort_Rib_Polydactyly_Syndrome..0.363420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36633480854170315496CT292774BenignShort_Rib_Polydactyly_Syndrome..0.905751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36646679324170315872GA660372Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36656679314170328209AG660214Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36666679304170346090CT660577Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36676679294170346254AG660579Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36686679284170354476GC660252Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3669955084170354836CT101407BenignShort_rib-polydactyly_syndrome,_Majewski_type|...0.79230.872220.795331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36706679274170359021GA660376Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36716712204170398843TC660581Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36726679244170476699TTCA660272Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36736679064170506990CT660288Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36746712004170522973CT660225Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36753694404175444055TC353669BenignDigital_clubbing,_isolated_congenital|Hypertro.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36763482244178352679TG294280BenignAspartylglucosaminuria.0.610640.456870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36776832544178353046GC660592Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36786832534178354667CA660229Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36796832524178354680AT660407Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36805589624178355668CG549568Benignnot_provided0.986780.996690.989021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36816832434178355880CT660409Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3682923084178359960GC98219BenignAspartylglucosaminuria|not_specified|not_provided0.925270.978220.920931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36836832414178360196TC660300Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36846832404178360476CA660301Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36855589654178363378GA549571Benignnot_provided0.606570.655260.610421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36866771874183601594GA660317Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36872573474183601847TC251400Benignnot_specified|not_provided0.374850.449280.520171|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36886676574183602098CG660601Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36896740124183651063GC660319Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36902573494183652175TC251402Benignnot_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36916771884183664593GA660257Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36922573534183674697CT251406Benignnot_specified|not_provided0.171550.198820.164741|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36936740134183674945GT660415Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36946740144183675227TC660417Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36956676594183715310GC660326Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36966676604183718095CG660259Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36973482564186068637AG292939BenignProgressive_External_Ophthalmoplegia_with_Mito.....0.93651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36983482594186068998GA294314BenignProgressive_External_Ophthalmoplegia_with_Mito.....0.036540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36993482624186069178TC294317BenignProgressive_External_Ophthalmoplegia_with_Mito.....0.43990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37003482714186070432TC297875BenignProgressive_External_Ophthalmoplegia_with_Mito.....0.468650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37013482824186071068GA297804BenignProgressive_External_Ophthalmoplegia_with_Mito.....0.430510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37021386754186423637GA142378Benignnot_specified|Cardiovascular_phenotype0.696680.783010.659551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37031386744186423655GA142377Benignnot_specified0.119870.156310.139181/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37046711794186423677GA660327Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37056711784186427841TC660337Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37066836824186429991TG660356Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37076836814186444235TC660358Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37086729154186444698AC660274Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3709414724187004074CT49908Benign/Likely_benignHuman_immunodeficiency_virus_type_1,_susceptib...0.21598.0.231830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37104704834187005865CT453122BenignHerpes_simplex_encephalitis_10.06343.0.054510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37113482884187112682AC294375BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.862221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37123482914187112826AG297824BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.43551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37132632974187120211CA251427BenignBietti_crystalline_corneoretinal_dystrophy|not...0.628250.585250.559311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37141669754187122304CT177662BenignBietti_crystalline_corneoretinal_dystrophy|not...0.367520.337710.292331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37151669764187122319TG177663BenignBietti_crystalline_corneoretinal_dystrophy|not...0.63994.0.577481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37162632984187122332GA251428Benign/Likely_benignBietti_crystalline_corneoretinal_dystrophy|not...0.038520.02720.033551/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37173483194187132159TG297909BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.827281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37183483244187132520CT294421BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.904351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37193483254187132536CT297916BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.827281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37203483514187133031AT293022BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.457671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37213483574187133576AC294435BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.904151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3722120374187158034GA27076Conflicting_interpretations_of_pathogenicityPrekallikrein_deficiency.0.536470.604631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37237609714187207381CT774896Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37243483824187210033AG293066Likely_benignHereditary_factor_XI_deficiency_disease..0.12840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37253483834187210064GC293075BenignHereditary_factor_XI_deficiency_disease..0.386180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37263483854187210247AT298032BenignHereditary_factor_XI_deficiency_disease..0.389580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37273483964187210741CATTC298036Uncertain_significanceHereditary_factor_XI_deficiency_disease...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37287818494187539205CT709288Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37292592485230980AG251940Benign/Likely_benignPheochromocytoma|Leigh_syndrome|Hereditary_can...0.91258.0.858430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37301302835231111TC135730Benign/Likely_benignPheochromocytoma|Leigh_syndrome|Hereditary_can...0.768690.707830.653360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37315481175610093CT538600drug_responsevincristine_response_-_Toxicity/ADR..0.282150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373278294451038075CT709550Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373313035451216775AG135801Likely_benignnot_specified0.92726.0.840061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37343911951255520GA47725BenignAplastic_anemia|Idiopathic_fibrosing_alveoliti...0.073810.123880.117810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373553924751266310AG520672Benignnot_provided..0.434310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373622578351279790CT227598BenignChronic_osteomyelitis|not_provided..0.347640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373753926651280028GA520888Benignnot_provided..0.165740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373853922751285974CA520975Benignnot_provided..0.321491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37393912651294086CT47732BenignAplastic_anemia|Idiopathic_fibrosing_alveoliti...0.207530.404470.265581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374053924051295349AG520856Benignnot_provided..0.297921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374151835951409127TC508799BenignParkinsonism-dystonia,_infantile,_10.996690.963880.93671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374252234751432825GT512901BenignParkinsonism-dystonia,_infantile,_10.286870.319030.420331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374368311051801936AG661326Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374468311151802229CT660881Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374568311251814146GA661328Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374668311551814783TC660883BenignMITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374735404056599492TGT300127Likely_benignIntellectual_Disability,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374812984156600064GT135287Benign/Likely_benignHistory_of_neurodevelopmental_disorder|not_spe...0.06589.0.055110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374935405456605532CA300147BenignIntellectual_Disability,_Recessive.0.660940.675321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375012984556632875GA135291Benignnot_specified|Intellectual_Disability,_Recessive0.34830.332530.276760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375112984256633042CT135288BenignHistory_of_neurodevelopmental_disorder|not_spe....0.294170.276560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375235406756633222CT304385BenignIntellectual_Disability,_Recessive..0.262380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3753702957870973AG22068drug_responseDown_syndrome,_susceptibility_to|Neural_tube_d....0.473030.364221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375413830457878179CT142007BenignGastrointestinal_stroma_tumor|Disorders_of_Int...0.328230.315470.269970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375550629357885794TTTC501264Benignnot_specified..0.090061|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375613829557891546GA141998Benignnot_specified0.01991.0.007990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375713829657892933AG141999BenignHomocystinuria-Megaloblastic_anemia_due_to_def...0.019450.01520.007990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375813829757893005CT142000BenignHomocystinuria-Megaloblastic_anemia_due_to_def...0.020990.016060.008990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375913829957897061TC142002Conflicting_interpretations_of_pathogenicityHomocystinuria-Megaloblastic_anemia_due_to_def...0.019450.015260.007990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
376013830257897319GA142005BenignDisorders_of_Intracellular_Cobalamin_Metabolis...0.323620.31420.266370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
376135436957900598TC300511Likely_benignDisorders_of_Intracellular_Cobalamin_Metabolism..0.083071|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
376235437357900833TA305043BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.485620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
376335437657900996TCT300516BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.486220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3764350245510250430GA294803BenignNeuropathy,_hereditary_sensory,_with_spastic_p...0.71298.0.68531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3765350246510250443TC296446BenignNeuropathy,_hereditary_sensory,_with_spastic_p...0.718050.789160.68531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3766350248510254817AG300196BenignNeuropathy,_hereditary_sensory,_with_spastic_p...0.718670.789470.68591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3767350249510256161TC300209BenignNeuropathy,_hereditary_sensory,_with_spastic_p...0.72736.0.692491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3768350257510262740CA294811BenignNeuropathy,_hereditary_sensory,_with_spastic_p...0.718670.789440.68591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3769350262510264962AG296482BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.68571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3770350264510265076CT296487BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.68591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3771350271510265278AG300281BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.68591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3772350276510265488AG300284BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.68611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3773350278510265719CG296511BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.663141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3774350284510265886CCTCTAT296526BenignSensory_Neuropathy_with_Spastic_Paraplegia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3775350288510266067GT300246BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.887981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3776350910513691045TC295377BenignPrimary_ciliary_dyskinesia..0.443690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3777258001513692279AT251675Benignnot_specified0.552590.525780.508790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3778178740513701525TC173682BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.486010.501270.447681|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3779163132513701536TC173545BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.534290.518970.503591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3780257989513721378AG251687Benignnot_specified0.101650.105710.056710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3781257985513729714AG251688Benignnot_specified0.593430.602350.597641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3782257980513735892TC251692Benignnot_specified0.55936.0.555911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3783178744513737444GA173548Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.09434.0.065690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3784407241513841160AAT394769PathogenicPrimary_ciliary_dyskinesia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3785258039513850731CA251744Benignnot_specified0.060970.052650.053311|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3786258038513850739TA251745Benignnot_specified0.33446.0.357030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3787163154513882841AG173563Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.269880.253470.25060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3788258017513882958CT251764Benignnot_specified0.254270.307690.31571|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3789178755513900345AG173566BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.522140.501530.601240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3790163157513902220TC173704BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.3320.418620.388380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3791163158513913885AG173705BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.429650.422020.528750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3792257987513914775GT251779Benignnot_specified0.427790.421650.528750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3793257988513914796TC251780Benignnot_specified0.427150.420960.528550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3794258072513919255TG251783Benignnot_specified0.220050.258560.195890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3795178760513944512AC173571BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.925570.93580.912941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3796351403514705665TC301744BenignChondrocalcinosis|Craniometaphyseal_dysplasia..0.705271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3797351418514707087AG297626Likely_benignChondrocalcinosis|Craniometaphyseal_dysplasia..0.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3798351424514707378GA295804BenignChondrocalcinosis|Craniometaphyseal_dysplasia..0.920731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3799351425514707405GAG301758BenignChondrocalcinosis|Craniometaphyseal_dysplasia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3800351428514707600CT297645BenignChondrocalcinosis|Craniometaphyseal_dysplasia..0.920731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3801351457514709199TC301573BenignChondrocalcinosis|Craniometaphyseal_dysplasia..0.963461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3802351459514709412AAT301574BenignChondrocalcinosis|Craniometaphyseal_dysplasia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3803351468514710035TG301588BenignChondrocalcinosis|Craniometaphyseal_dysplasia..0.964061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3804352675516473838CT298709BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.407950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3805352681516474644TG302950BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.322280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3806352683516474778CCT303128BenignHereditary_sensory_and_autonomic_neuropathy_ty......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3807518360516477751CA508800BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.730820.662470.677120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3808673439516478120AG660816Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3809352689516478200GA296804BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.730630.666120.677520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3810673438516479151AG661117Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3811670508516479220AG661234Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3812668135516566212CT661064Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3813286856516617099AG271093Benignnot_specified.0.858810.839460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3814617842519591174AG609201Uncertain_significanceSpeech-language_disorder_10.138630.16780.095850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3815197829533951693CG194990Benignnot_specified.0.64030.274961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3816197309533954511TC194470Benignnot_specified0.959250.896770.833071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3817353244533988535CT303828Benign/Likely_benignOculocutaneous_albinism|Alpha-methylacyl-CoA_r.....0.193690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3818128360533989518CT133809BenignOculocutaneous_albinism|Alpha-methylacyl-CoA_r...0.759110.70160.696091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3819128359533998768CA133808Benign/Likely_benignAlpha-methylacyl-CoA_racemase_deficiency|not_s...0.119950.126830.114420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3820128358533998883AG133807BenignAlpha-methylacyl-CoA_racemase_deficiency|not_s...0.74865.0.714861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3821128357534004707CT133806BenignAlpha-methylacyl-CoA_racemase_deficiency|not_s...0.384210.410770.25260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3822128356534008100CT133805BenignAlpha-methylacyl-CoA_racemase_deficiency|not_s...0.417590.42270.286941|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3823403471535641582AC389694Benignnot_specified0.595720.606060.679111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3824403472535644621TC389682Benignnot_specified0.684630.722040.784151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3825403473535654711CT389695Benignnot_specified0.591960.601230.677121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3826403475535692775TA389697Benignnot_specified0.260750.222320.357030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3827403477535700598TC389646Benignnot_specified0.561150.509550.44050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3828403478535709095CT389685Benignnot_specified0.756560.75556.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3829403479535709184GC389686Benignnot_specified0.756090.75565.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3830403481535753715TC389667Benignnot_specified0.542010.593350.503590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3831379998536217997TA368624Benignnot_specified0.330620.376410.327280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3832379997536241922GA368629Benignnot_specified.0.498590.258390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3833676272536242007GA660886Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3834379996536242212TC368467Benignnot_specified..0.309311|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3835353326536686404GA297395BenignEpisodic_ataxia0.235050.29768.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3836353336536686886AC299438BenignEpisodic_ataxia..0.350440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3837353354536687856CT297413BenignEpisodic_ataxia..0.204870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
383896333536985303AG102227BenignHistory_of_neurodevelopmental_disorder|Corneli...0.113790.13220.12520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
383996340537001074AG102234Benign/Likely_benignnot_specified0.113180.132030.12680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3840673933537007629TC661216Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3841673934537019354GA661223Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3842667677537027258CA661340Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
384396348537036492CT102242BenignHistory_of_neurodevelopmental_disorder|not_spe...0.102980.228430.171530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3844673993537038517AATATG661155Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3845673935537045841AG660889Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3846667678537061261AG661158Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3847680164537139291TG661225Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3848197507537139474TAT194668Benign/Likely_benignJoubert_syndrome|not_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3849680162537142778GA661233Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3850671676537154427AG660892Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3851680161537162855TC661342Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3852680160537169994GA661168Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3853158048537173930AC167895BenignJoubert_syndrome|Joubert_syndrome_17|not_speci...0.175770.135070.172720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3854680158537175888TTTTA661235Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3855158046537176091AG167893Benign/Likely_benignJoubert_syndrome|Joubert_syndrome_17|not_speci...0.14870.123940.142370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3856158053537247700GA167900BenignJoubert_syndrome_17|not_specified.0.999910.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3857778866537371059GA699089Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3858353491537814102TC304160Likely_benignHirschsprung_Disease,_Dominant..0.24760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3859353494537814148AG304161BenignHirschsprung_Disease,_Dominant..0.539940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3860353520537839633TC304198BenignHirschsprung_Disease,_Dominant..0.405351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3861353538538476528AT303799BenignStuve-Wiedemann_syndrome..0.142170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3862353589538480499GA299756Uncertain_significanceStuve-Wiedemann_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3863353602538481335CT297587BenignStuve-Wiedemann_syndrome..0.729030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3864353617538486065CT297598BenignStuve-Wiedemann_syndrome0.186910.19090.138380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3865402465539342308CT389704Benignnot_specified0.606340.536420.62780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3866402466539364554GA389708Benignnot_specified0.360140.364270.286141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3867402458541199959GT389633Benignnot_specified0.608410.593610.553910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3868353674541870675TC297643BenignSuccinyl-CoA_acetoacetate_transferase_deficiency..0.196490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3869353677542565967TC303980Uncertain_significanceLaron-type_isolated_somatotropin_defect0.000540.000480.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3870198051542700044AG195212BenignLaron-type_isolated_somatotropin_defect|not_sp...0.633860.712160.641570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3871255404542719082CT251971Benign/Likely_benignLaron-type_isolated_somatotropin_defect|not_sp...0.021910.022570.020570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
38728658542719239AC23697BenignLaron-type_isolated_somatotropin_defect|Famili....0.443390.444490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3873353693542719826GA303994BenignLaron-type_isolated_somatotropin_defect..0.455670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3874353695542720068TTA304005BenignLaron-type_isolated_somatotropin_defect..0.819491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3875353706542721023TTTGT304017BenignLaron-type_isolated_somatotropin_defect...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3876353708542721080GA297656BenignLaron-type_isolated_somatotropin_defect..0.787941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3877353723544305309CG297679BenignCongenital_absence_of_salivary_gland|Levy-Holl...0.162390.216110.183910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3878353737552344610AG299877BenignPlatelet-type_bleeding_disorder_90.753110.721260.702280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3879353796552387150AC297736BenignCombined_molybdoflavoprotein_enzyme_deficiency.....0.793331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3880353800552387323CT297741BenignCombined_molybdoflavoprotein_enzyme_deficiency.....0.680110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3881353828552388999CT297766Benign/Likely_benignCombined_molybdoflavoprotein_enzyme_deficiency.....0.183710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3882353836552389311GGGTATGTTTAGC304488Uncertain_significancePlatelet-type_bleeding_disorder_9...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3883353841552389455AG297779BenignCombined_molybdoflavoprotein_enzyme_deficiency.....0.69010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3884353851552389811TTAAAG299970BenignCombined_molybdoflavoprotein_enzyme_deficiency......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3885129699552856504GC135145BenignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.661540.627650.680910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3886683100552941835GA661178Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3887683102552941905AG660908Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3888129700552942083AC135146BenignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.96878.0.943491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3889129701552942197AG135147BenignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.792480.773450.800120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3890683104552942408TAAT661246Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3891683106552942463CT661254Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3892683108552978722CT661351Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3893353892552979097GA304535Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency0.41950.448490.378590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3894403074554516521GA389688Benignnot_specified.0.614050.488420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3895261408554528393GC251972Benignnot_specified0.15961.0.177720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3896518361556111751GC508801Benign46,XY_sex_reversal,_type_6.0.795540.68570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3897518362556152416CA508802Benign46,XY_sex_reversal,_type_60.698930.613210.526160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3898518363556161787GA508803Benign46,XY_sex_reversal,_type_60.853010.84790.804310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3899518364556177443GA508804Benign46,XY_sex_reversal,_type_60.650120.598350.476440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3900518365556177743GA508805Benign46,XY_sex_reversal,_type_60.798470.76480.708270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3901435819556177848TCAAT428439Benign46,XY_sex_reversal,_type_6|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3902518366556178217AC508806Benign46,XY_sex_reversal,_type_60.79947.0.708270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3903353926558266490GC304270BenignAcrodysostosis..0.646561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3904353936558267557CT304283BenignAcrodysostosis..0.647561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3905353937558267723AC304604BenignAcrodysostosis..0.647361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3906353941558267976TA304619BenignAcrodysostosis..0.589061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3907353992558286625CT304670BenignAcrodysostosis|not_specified0.816540.838380.809311|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3908354027560240986AG297944BenignCockayne_syndrome|Leigh_syndrome|Mitochondrial.....0.724241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3909129691560241142GA135137BenignCockayne_syndrome|Leigh_syndrome|Mitochondrial....0.638750.692891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3910671559560369083AG661202Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3911680678560448276AG661357Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3912380829561642937TC368220Benignnot_specified0.252540.300720.209861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3913682855561643816GA661206Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3914682860561648738TG661381Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3915682864561649347TA661383Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3916682867561650843GA661267Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3917682868561651248TC660921Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3918682871561653757CT661386Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3919682874561654187GC661214Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3920682872561657228TC661219Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3921682876561657574TC660928Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3922682877561657586TC661271Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3923668920561658648TA661281Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3924682879561659339CT661227Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3925682882561662457GA661392Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3926682886561673670AG661398Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3927682887561676902GT661291Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3928375667563258565CG362497drug_responsenot_specified|paroxetine_response_-_Efficacy..0.546731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3929769300568396764TTG777613Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
393043843568720419TG53012Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.34236.0.281750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3931508084570751818TG501602Benignnot_specified0.767140.824750.778161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3932509130570798553AT500910Likely_benignnot_specified|not_provided0.004780.005620.003790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3933517819570800475CT501380Benignnot_specified0.283220.353860.323680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3934508085570800538GA501609Benignnot_specified0.447760.46180.432710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3935506538570806457GA500913Benignnot_specified0.450040.46310.43970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3936508086570806649TA500915Benignnot_specified0.45353.0.43990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3937508087570806711CG501387Benignnot_specified0.771860.825430.790741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3938508088570806958GA501621Benignnot_specified0.802910.834350.821091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3939682760570807991GA661412Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3940508127570809169AG501630Benignnot_specified0.429690.426520.399560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3941508592570818150CG501633Benignnot_specified|not_provided0.031820.021490.020170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3942506716570837295AC501636Benignnot_specified0.803780.835340.822681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3943508089570840233CT501236Benignnot_specified0.428190.426550.398960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3944508090570849021GT501390Benignnot_specified0.449970.461960.432710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3945517820570858194CT501246Benignnot_specified0.284820.353720.323680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3946684211570882917AT661306Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3947684213570882950CG661319Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3948261560570922616GA251976Benignnot_specified0.796830.834810.81351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3949684218570927686CT660936Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3950684219570930509TC661415Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
395196032570930966AG101926Benign3-MCC_Deficiency|not_specified0.288870.367330.330070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3952684220570936643CG661417Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3953684221570939437GA661321Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
395496029570945075AG101923Benign3-MCC_Deficiency|not_specified0.813240.878080.851441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3955684228570948263CT661256Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3956354106570952934CT304413Benign3-MCC_Deficiency..0.81111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3957354124570953885CT300210Benign3-MCC_Deficiency..0.320690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3958257378573076511CA251987Benignnot_specified0.569550.547970.577880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3959257359573144845AG251992Benignnot_specified0.670330.651440.676320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3960257363573163861CT251996Benignnot_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3961257371573205463GA252002Benignnot_specified0.02560.050920.035140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3962257372573205697CG252003Benignnot_specified0.025430.057260.036540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3963257373573205717CT252004Benignnot_specified0.026820.048690.034740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3964257374573207372TA252005Benignnot_specified0.384880.380880.302321|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3965680596573980799GC661332Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3966369506573980960CT353735BenignSandhoff_disease|not_provided..0.510380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3967369507573980963GCG353736BenignSandhoff_disease..0.510380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3968167173573981270TC177767BenignSandhoff_disease|not_specified.0.970820.981431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3969680598573981662GA661334Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3970681700573985534TC660941Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3971256360573992609GA252011Benignnot_specified0.900460.891840.853441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
397293202573992881AG99109Benign/Likely_benignHEXB_POLYMORPHISM|Sandhoff_disease|not_specifi...0.127480.151480.12840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3973137480574017499CT141183Benignnot_specified0.15816.0.12361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3974214504574021846TACTCAAT211177Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3975671623574033944CT661336Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3976137475574034245GA141178Benignnot_specified0.172310.123950.139181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3977137472574037386TA141175Benignnot_specified0.142650.131810.108431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3978676215574054595AG660946Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3979137481574055209TC141184Benignnot_specified0.188220.128460.155751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
398014903574648603AT29942associationLow_density_lipoprotein_cholesterol_level_quan.....0.43570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3981354164576708987AG304827BenignStriatal_Degeneration0.695140.703120.765181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3982354179576722443GA304539BenignStriatal_Degeneration..0.661140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3983354185576722816AG304845BenignStriatal_Degeneration..0.050720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3984354192576722891TC304550BenignStriatal_Degeneration..0.445490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3985162753577425028AT174289BenignHermansky-Pudlak_syndrome|not_specified0.93280.86283.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3986369509578073025TC353738Likely_benignMucopolysaccharidosis_type_VI..0.057911|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3987354256578073039AC298115Likely_benignMucopolysaccharidosis_type_VI..0.075680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3988354262578073245CA304685BenignMucopolysaccharidosis_type_VI..0.737421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3989354287578074918CA298153BenignMucopolysaccharidosis_type_VI..0.50260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3990354290578074963TG300434Likely_benignMucopolysaccharidosis_type_VI..0.171330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3991680476578181174GA661273Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
399292350578181477CT98261BenignMucopolysaccharidosis_type_VI|not_specified|no...0.32470.390730.285540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
399392357578181577TC98268Benign/Likely_benignMucopolysaccharidosis_type_VI|not_specified|no...0.052360.052690.026560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3994680475578181850TC661437Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3995254739578265041AG252018Benignnot_specified|not_provided0.299030.32030.243010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3996354323578281373TC300479BenignMucopolysaccharidosis_type_VI..0.905151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3997354331578281909CCTG300491BenignMucopolysaccharidosis_type_VI..0.951881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3998354338578282249TC298198BenignMucopolysaccharidosis_type_VI..0.816291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3999380066578324352AG368577Benignnot_specified0.343610.279840.304110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4000380065578324482TC368583Benignnot_specified0.343230.279830.304110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4001380064578326750GC369960Benignnot_specified0.347220.280770.305910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4002380063578328560GA368740Benignnot_specified0.201910.188760.198680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4003380019578351636AC369997Benignnot_specified0.630310.644820.650560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4004785801579025290GA710026Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4005157590579950163CCTGGCGCGTCCCGCCCAGGT167452Uncertain_significanceGastrointestinal_stroma_tumor...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4006402590579950741GCCCCCAGCTG389689Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4007354395582815158AG300534BenignVitreoretinopathy|Wagner_syndrome0.030770.031710.019970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4008354396582815170AG300536BenignVitreoretinopathy|Wagner_syndrome0.030620.03150.019970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4009259361582815408GA252024BenignVitreoretinopathy|Wagner_syndrome|not_specified0.170150.152650.212860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4010198803582833145GA195963BenignVitreoretinopathy|Wagner_syndrome|not_specified0.672070.64776.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4011167820582833369AG176969BenignVitreoretinopathy|Wagner_syndrome|not_specified0.498620.4840.471050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4012167823582834299GA177101BenignVitreoretinopathy|Wagner_syndrome|not_specified0.383670.381050.358430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4013167824582834630TC178145BenignVitreoretinopathy|Wagner_syndrome|not_specified0.497920.483790.468650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4014198797582835545AG195957BenignVitreoretinopathy|Wagner_syndrome|not_specified0.4970.483490.470450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4015198798582835724TA195958BenignVitreoretinopathy|Wagner_syndrome|not_specified0.49546.0.468450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4016198802582837631GT195962BenignVitreoretinopathy|Wagner_syndrome|not_specified0.38890.381190.360620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4017259379582875800CT252038BenignVitreoretinopathy|Wagner_syndrome|not_specified0.974780.97550.992011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4018354492582877682AG305120BenignVitreoretinopathy|Wagner_syndrome..0.568891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4019354493582877689CT304902BenignVitreoretinopathy|Wagner_syndrome..0.169931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4020354494582877794CTC300623BenignVitreoretinopathy|Wagner_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4021811536586637164GGA799424Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4022354570588016008AG305013BenignIntellectual_Disability,_Stereotypic_Movements.....0.701280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4023354574588016153AAT305209BenignIntellectual_Disability,_Stereotypic_Movements......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4024670880588045029CA661299Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4025684337588120079CCCT660958Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4026354599588179070AAG305082Uncertain_significanceIntellectual_Disability,_Stereotypic_Movements......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4027670329589918704TC660968Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4028674374589918725TG661390Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4029670346589918813GC661314Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4030670347589924976CA660973Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
403146305589938587CT55470Benignnot_specified0.748640.73220.821291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4032678787589939067GA661461Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4033678814589940036GC660987Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
403446313589943571GT55478Benignnot_specified0.72749.0.81031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4035678816589943699GA661465Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4036678817589947247CT661007Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4037678818589954184TC661408Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4038678794589968626AT661470Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4039678796589968773GA661009Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4040678797589975629TA661010Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4041158652589979380TC168549Benignnot_specified|not_provided0.297220.486850.322680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404246343589979589GA55508Benignnot_specified0.727520.707770.803711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404346345589979698CT55510Benignnot_specified0.305360.354170.337260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404446356589985882AG55521Benignnot_specified0.31810.387420.349840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404546358589988412GA55523Benignnot_specified0.291780.385470.322090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404646360589988504AG55525Benignnot_specified0.291390.37290.322280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404746365589989779GA55530Benignnot_specified|not_provided0.29030.357450.322090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404846379589990324AG55544Benignnot_specified0.731260.709010.808511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4049158654589990545CA168551Benignnot_specified|not_provided0.54739.0.647170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4050674377589993045TC661414Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4051678800589999968AG661324Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4052674378590001988GT661335Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4053678801590006552TG661416Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4054674379590007196CT661012Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4055678802590007288TA661343Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
405646403590012379GA55568Benignnot_specified0.065030.068610.046530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4057674380590012614AT661471Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4058678803590012703GA661473Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4059674381590015792CT661474Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4060674382590016129AG661015Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4061158656590020868AC168553Benignnot_specified|not_provided0.717210.710520.798121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
406246409590020923TG55574Benignnot_specified0.29627..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4063158642590021499GT168554Likely_benignnot_specified.0.56979.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4064678805590021691CT661476Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4065678806590024277TC661420Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
406646248590024735GA55413Benignnot_specified|not_provided0.752960.748380.829071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4067674384590041161GA661422Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
406846252590041510AG55417Benignnot_specified|not_provided0.034830.030080.017370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4069674385590049238AG661359Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407046256590052263TTC55421Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407146257590052289GA55422Benignnot_specified0.25290.346470.296131/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407246258590052372CT55423Benignnot_specified|not_provided0.520350.483020.539341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4073674386590053056AG661490Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4074678807590059001TA661424Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4075667602590073390AG661371Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407646268590079820AG55433Benignnot_specified0.165150.172390.092250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4077678810590103785TG661382Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407846282590107108AG55447Benignnot_specified0.936120.968570.946091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4079678812590111700TC661441Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
408046285590119324GA55450Benignnot_specified0.97210.992010.972241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4081678813590150228AG661028Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
408246291590151589GA55456BenignUsher_syndrome,_type_2C|not_specified0.434750.539310.459070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4083678815590368596CT661029Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
408446299590449031TC55464Benignnot_specified0.916680.92640.898361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
408546300590449154GA55465Benignnot_specified0.117560.127510.138181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4086354634595728440AG300730Likely_benignProprotein_convertase_1/3_deficiency|Monogenic.....0.166731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4087771152598205532TC699223Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40886839785110075414CA660814Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40896711005110092160AG660456Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40906711045110092531AG660824Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40916686325110096939GA655620Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40922624665110439509AG251609BenignPrimary_open_angle_glaucoma|not_specified0.238540.318470.257390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40932624655110456704AT251610BenignPrimary_open_angle_glaucoma|not_specified|not_...0.23930.320830.259190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40943503625110463631TG300351BenignPrimary_open_angle_glaucoma..0.036941|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40953503705110464008TC300356BenignPrimary_open_angle_glaucoma..0.154551|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4096827115112064475AT93602otherFamilial_colorectal_cancer..0.37280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4097827125112064826GC93603otherFamilial_colorectal_cancer..0.987421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4098827155112066524GC93606otherFamilial_colorectal_cancer..0.984821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4099827175112067142CT93608otherFamilial_colorectal_cancer..0.212660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4100827425112074269AG93633otherFamilial_colorectal_cancer..0.43590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4101827445112074356CT93635otherFamilial_colorectal_cancer..0.601440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4102827485112074722CG93639otherFamilial_colorectal_cancer..0.43650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4103827565112077447TA93647otherFamilial_colorectal_cancer..0.430910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4104827605112077770AG93651otherFamilial_colorectal_cancer...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4105827615112077920GC93652otherFamilial_colorectal_cancer...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4106827665112079882TG93657otherFamilial_colorectal_cancer..0.43650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4107827705112080728GA93661otherFamilial_colorectal_cancer..0.213460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4108827795112081924AG93670otherFamilial_colorectal_cancer..0.43650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4109827955112085611TG93686otherFamilial_colorectal_cancer..0.43690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4110827995112086165TA93690otherFamilial_colorectal_cancer..0.43550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4111828015112087327TG93692otherFamilial_colorectal_cancer..0.619410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4112828075112088507GA93698otherFamilial_colorectal_cancer..0.982231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4113828095112089282TC93700otherFamilial_colorectal_cancer...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4114828115112089480TC93702otherFamilial_colorectal_cancer...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4115828235112091704CG93714otherFamilial_colorectal_cancer..0.604830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4116828245112092402TG93715otherFamilial_colorectal_cancer..0.43790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4117886255112093955AG94223otherFamilial_colorectal_cancer..0.982831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4118828295112094404GA93720otherFamilial_colorectal_cancer..0.603240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4119828325112095332GA93723otherFamilial_colorectal_cancer..0.18950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4120828365112095775TA93727otherFamilial_colorectal_cancer..0.433710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4121828405112097234GA93731otherFamilial_colorectal_cancer..0.431110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4122828435112097757AG93734otherFamilial_colorectal_cancer..0.454070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4123828455112098911GA93736otherFamilial_colorectal_cancer..0.982631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4124828465112098938TA93737otherFamilial_colorectal_cancer..0.43791/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4125828475112099028AG93738otherFamilial_colorectal_cancer..0.43710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4126828595112100027GA93750otherFamilial_colorectal_cancer..0.621010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4127828635112100595AC93754otherFamilial_colorectal_cancer..0.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4128828685112101457GT93759otherFamilial_colorectal_cancer..0.542930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4129828695112101496GA93760otherFamilial_colorectal_cancer..0.982431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4130828715112101793CA93762otherFamilial_colorectal_cancer..0.737820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4131828785112103963CG93769otherFamilial_colorectal_cancer..0.43750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4132828805112104297AG93771otherFamilial_colorectal_cancer..0.43830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4133828845112105223AT93775otherFamilial_colorectal_cancer..0.432910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4134828875112107058GA93778otherFamilial_colorectal_cancer..0.43490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4135828895112107726CT93780otherFamilial_colorectal_cancer..0.432510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4136828965112108865TC93787otherFamilial_colorectal_cancer..0.455870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4137829015112109779GC93792otherFamilial_colorectal_cancer..0.631790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4138829105112111070GA93801otherFamilial_colorectal_cancer..0.982431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4139829155112111866GC93806otherFamilial_colorectal_cancer..0.431910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4140829245112113527AT93815otherFamilial_colorectal_cancer..0.43810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4141829255112113735CT93816otherFamilial_colorectal_cancer..0.445490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4142829265112113760TC93817otherFamilial_colorectal_cancer..0.74840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4143829275112113772GA93818otherFamilial_colorectal_cancer..0.43610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4144829345112116024CT93825otherFamilial_colorectal_cancer..0.524960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4145829355112116069GA93826otherFamilial_colorectal_cancer..0.649160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4146829395112116773AG93830otherFamilial_colorectal_cancer..0.452080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4147829485112118195GA93839otherFamilial_colorectal_cancer..0.617210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4148829505112118956CT93841otherFamilial_colorectal_cancer..0.433510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4149829665112122532GC93857otherFamilial_colorectal_cancer..0.443090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4150829805112124369TC93871otherFamilial_colorectal_cancer...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4151830125112130086CA93903otherFamilial_colorectal_cancer...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4152830185112131288AG93909otherFamilial_colorectal_cancer..0.466650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4153830195112131787AG93910otherFamilial_colorectal_cancer..0.449880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4154830305112135067TC93921otherFamilial_colorectal_cancer..0.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4155830315112135090GA93922otherFamilial_colorectal_cancer..0.443091/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4156830365112135737AG93927otherFamilial_colorectal_cancer..0.43890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4157830375112136204AG93928otherFamilial_colorectal_cancer..0.43890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4158830465112138734GA93937otherFamilial_colorectal_cancer..0.746610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4159830475112138888GC93938otherFamilial_colorectal_cancer..0.665340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4160830495112139745AG93940otherFamilial_colorectal_cancer..0.43810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4161830705112144023AG93961otherFamilial_colorectal_cancer..0.441890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4162830715112144444AT93962otherFamilial_colorectal_cancer..0.43490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4163830735112144954TC93964otherFamilial_colorectal_cancer..0.739220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4164830755112145261CA93966otherFamilial_colorectal_cancer..0.432310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4165830815112146197TG93972otherFamilial_colorectal_cancer..0.43610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4166830895112149757TC93980otherFamilial_colorectal_cancer..0.785140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4167831105112153119CT94001otherFamilial_colorectal_cancer..0.694690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4168831125112153495AG94003otherFamilial_colorectal_cancer..0.746610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4169831135112153665CT94004otherFamilial_colorectal_cancer..0.695090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4170831185112153996CG94009otherFamilial_colorectal_cancer..0.737220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4171831215112154303TG94012otherFamilial_colorectal_cancer..0.705670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4172831275112155504CG94018otherFamilial_colorectal_cancer..0.737220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4173831285112155793GC94019otherFamilial_colorectal_cancer..0.683910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4174831365112158431GA94027otherFamilial_colorectal_cancer..0.679110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4175831395112159385AG94030otherFamilial_colorectal_cancer..0.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4176831405112159470AG94031otherFamilial_colorectal_cancer..0.43570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4177831425112159562AG94033otherFamilial_colorectal_cancer..0.816290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4178831525112161469CA94043otherFamilial_colorectal_cancer..0.43810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4179831575112162413AG94048otherFamilial_colorectal_cancer..0.497010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4180422385112162854TC51408BenignHepatocellular_carcinoma|Neoplasm_of_stomach|C...0.462170.577980.509980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4181831625112164238CT94053otherFamilial_colorectal_cancer..0.674120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4182422395112164561GA51409BenignHereditary_cancer-predisposing_syndrome|Famili...0.586440.648110.666130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4183831635112164862GA94054otherFamilial_colorectal_cancer..0.43990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4184831815112166862GA94072otherFamilial_colorectal_cancer..0.432110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4185831825112167130TG94073otherFamilial_colorectal_cancer..0.69010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4186831835112167587TC94074otherFamilial_colorectal_cancer..0.433910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4187831845112167821CT94075otherFamilial_colorectal_cancer..0.620010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4188831855112167941CG94076otherFamilial_colorectal_cancer..0.620610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4189831865112168065AG94077otherFamilial_colorectal_cancer..0.620210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4190831875112168130GC94078otherFamilial_colorectal_cancer..0.620010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4191831965112169525TA94087otherFamilial_colorectal_cancer..0.737220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4192832095112170358GA94100otherFamilial_colorectal_cancer...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4193832265112172219GA94117otherFamilial_colorectal_cancer..0.677520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4194832285112172786GT94119otherFamilial_colorectal_cancer..0.675520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4195832295112172930TC94120otherFamilial_colorectal_cancer..0.50060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4196422425112175770GA51412BenignHereditary_cancer-predisposing_syndrome|Famili...0.586220.648570.665540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4197422435112176325GA51413BenignHereditary_cancer-predisposing_syndrome|Famili...0.590130.651390.666730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4198422455112176559TG51415BenignHereditary_cancer-predisposing_syndrome|Famili...0.58799.0.666930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4199210305112176756TA33882BenignHereditary_cancer-predisposing_syndrome|Famili...0.826260.798110.865421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4200422475112177171GA51417BenignHereditary_cancer-predisposing_syndrome|Famili...0.586910.648810.666530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42013504305112180228CCA300417BenignAPC-Associated_Polyposis_Disorders...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4202832605112180921TC94151BenignFamilial_colorectal_cancer|APC-Associated_Poly.....0.43690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4203832625112181379CG94153BenignFamilial_colorectal_cancer|APC-Associated_Poly.....0.441890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4204832635112181576GA94154BenignFamilial_colorectal_cancer|APC-Associated_Poly.....0.697280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4205832685112182232AT94159otherFamilial_colorectal_cancer..0.697680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4206832725112182379GA94163otherFamilial_colorectal_cancer..0.697680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4207832755112182691AG94166otherFamilial_colorectal_cancer..0.517570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4208832765112183157AG94167otherFamilial_colorectal_cancer..0.446690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4209832845112184490TC94175otherFamilial_colorectal_cancer..0.462860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4210832925112185393AC94183otherFamilial_colorectal_cancer..0.705670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4211832965112185451AG94187otherFamilial_colorectal_cancer..0.706270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4212832975112185491AG94188otherFamilial_colorectal_cancer..0.705870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4213832985112185513AC94189otherFamilial_colorectal_cancer..0.446290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4214833005112186064CA94191otherFamilial_colorectal_cancer..0.729230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42157693035112406785GGCCTCGCGCTGTCTT777467Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42167693045115249078CT698737Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42173504575118788196CG294951BenignBifunctional_peroxisomal_enzyme_deficiency|Per.....0.406350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42181980795118811533GA195240BenignBifunctional_peroxisomal_enzyme_deficiency|Per....0.440040.362620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42192266675118861713AG229226BenignBifunctional_peroxisomal_enzyme_deficiency|Per...0.404410.410990.400160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42203504755118877933TTA296734BenignBifunctional_peroxisomal_enzyme_deficiency|Per......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4221143635121413208CT29402BenignLYSYL_OXIDASE_POLYMORPHISM.0.172810.156750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42227693055122425971AACCTCCGCCT698749Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42233505205125877635AG295016BenignPyridoxine-dependent_epilepsy..0.471851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42243505315125878158CT300529BenignPyridoxine-dependent_epilepsy..0.485621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42253505455125878908CAAT296855Uncertain_significancePyridoxine-dependent_epilepsy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42263505495125878954CAC300605BenignPyridoxine-dependent_epilepsy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42273505605125879549CT295051BenignPyridoxine-dependent_epilepsy..0.491611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42283505715125879850GC300644BenignPyridoxine-dependent_epilepsy..0.575881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42293505805125880589TC300539BenignPyridoxine-dependent_epilepsy0.4343.0.360621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42306708215125886071CT660644Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42316679625125895313TC660703Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42326747015125896918CA660704Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42333505885125930950CT300549Benign/Likely_benignPyridoxine-dependent_epilepsy.0.034230.012380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42343506225126171999TC300706BenignLeukodystrophy,_Adult-Onset0.652590.675130.672721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42353506235126172195CT300712BenignLeukodystrophy,_Adult-Onset..0.447881|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42363506315126626645GA295112Likely_benignMyopathy,_areflexia,_respiratory_distress,_and.....0.340660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42376831575126674613AG660863Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42386831825126738041AC660679Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42392620605126746277CT251627BenignMyopathy,_areflexia,_respiratory_distress,_and...0.940950.944720.973441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42406831835126746434GA660509Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42416714905126756195GC660683Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42422620655126769146TC251629Benign/Likely_benignMyopathy,_areflexia,_respiratory_distress,_and...0.196530.162390.191490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42436714925126773859AC660868Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42446715135126790841TG660775Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42452620755126791282GA251637Benign/Likely_benignMyopathy,_areflexia,_respiratory_distress,_and...0.14370.141960.120610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42462620765126792974TA251638Benign/Likely_benignMyopathy,_areflexia,_respiratory_distress,_and...0.493390.527510.3780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42473506775126793219CG300797BenignMyopathy,_areflexia,_respiratory_distress,_and.....0.641571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42483506815126793635AG300798Likely_benignMyopathy,_areflexia,_respiratory_distress,_and.....0.080870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42493507005126795159GA295172Likely_benignMyopathy,_areflexia,_respiratory_distress,_and.....0.245810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42503507035126795246CA300658BenignMyopathy,_areflexia,_respiratory_distress,_and.....0.639781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42513507135126796531TCAT297005Likely_benignMyopathy,_areflexia,_respiratory_distress,_and......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42523507175126796585TG300673BenignMyopathy,_areflexia,_respiratory_distress,_and.....0.647171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42533507435127594512TC295239BenignCongenital_contractural_arachnodactyly..0.985621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42546835375127610002CT660909Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42556784905127611499AT660546Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42566835365127613299GT660914Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42576723255127613791CG660922Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42581290495127614472AG134495BenignCongenital_contractural_arachnodactyly|not_spe...0.677920.728110.726641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42591373475127622983CT141050BenignCongenital_contractural_arachnodactyly|not_spe...0.443570.518420.357631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42601373455127625559TC141048BenignCongenital_contractural_arachnodactyly|not_spe...0.126310.196830.144171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42616723235127638464AC660957Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42626733445127638553TC660801Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42636710045127640861AG660745Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42646723225127645287TA660807Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42656723215127648188GA660965Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42666835315127668991CT660969Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42676723185127671924AG660562Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42686835305127674132GA660564Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42696699725127675017CT660762Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42706784895127680818CT660847Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42716835295127681574GA660785Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42721290395127685135CT134485BenignCongenital_contractural_arachnodactyly|not_spe....0.723390.731031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42736696395127744825CT660991Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42746742655127854758CT660866Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42756742645127854848TA660995Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42763507985127873605TC295269BenignCongenital_contractural_arachnodactyly..0.43750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42776750975127873807CT660812Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42787746335130764699AT698766Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
427957505131676320CT20789BenignSLC22A4_POLYMORPHISM.0.291270.134390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42803508065131705458CG300783BenignRenal_carnitine_transport_defect..0.733030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4281940995131705949TC99999BenignRenal_carnitine_transport_defect|not_specified...0.34970.496830.486220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42826705725131714409CT661014Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4283253825131719999AG36716BenignRenal_carnitine_transport_defect|not_specified....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4284253835131720070AG36717BenignRenal_carnitine_transport_defect..0.486020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4285941015131721174AG100001BenignRenal_carnitine_transport_defect|not_specified...0.378290.439260.486220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4286941025131721204TC100002BenignRenal_carnitine_transport_defect|not_specified...0.37390.43990.486020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42876701065131724950TC660900Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42886701075131729118AC660851Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42893508205131730052CAC300792BenignRenal_carnitine_transport_defect...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42903508275131730807TC300804BenignRenal_carnitine_transport_defect..0.744211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42913508315131730923AAC300759BenignRenal_carnitine_transport_defect..0.767371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4292146735131995964AG29712risk_factorAllergic_rhinitis,_susceptibility_to|Asthma,_s....0.733630.730030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42931374595132198100CT141162Benignnot_specified0.185530.142630.134780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42943508515132203952GA295333Likely_benignMitochondrial_complex_III_deficiency,_nuclear_.....0.105430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42953508525132203997AG300854Likely_benignMitochondrial_complex_III_deficiency,_nuclear_.....0.170730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42963508545132204031GA295343Likely_benignMitochondrial_complex_III_deficiency,_nuclear_.....0.047920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42972868685134364518CG271105Benignnot_specified0.216590.300140.319890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42982186435136834138TC215308Benignnot_specified0.008840.009230.003790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42993509235136953577TC301103BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.62660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43003509425136954719TC297212BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.62680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43013509435136954861AG297218BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.300321|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43023509565136955707TG301170BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.12360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43033509655136956477GA301186BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.295530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43043509765136957466TACT295447Uncertain_significancePseudohypoaldosteronism_type_1_autosomal_dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43052608095137028029TC251708BenignPseudohypoaldosteronism_type_1_autosomal_domin...0.779030.79260.828080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43061673175137206560AC177851BenignMyofibrillar_myopathy_3|not_specified0.985160.99591.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43076676215137211268TG661034Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43087703575137527948CT777510Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43096700835138356756GA660862Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43106700825138356775CA660653Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43116700815138357211AG660870Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43126700805138362283CT660657Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43136700795138386859CA660912Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4314960855138456815TC101979BenignMarinesco-Sjögren_syndrome|not_specified|not_p...0.514220.435440.426920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43153511115138609609CG297367BenignDistal_myopathy.0.632490.420330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43163511175138642997AAT297372BenignDistal_myopathy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43172632075138643062TA251790BenignDistal_myopathy|not_specified0.54422.0.446490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43183511585138665756GA301471BenignDistal_myopathy.0.62354.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43193511705138666372TG297420BenignDistal_myopathy.0.657410.399960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43204035505138857919TC389615BenignSting-associated_vasculopathy,_infantile-onset...0.870060.875990.87281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43214035515138861146CG389619Benignnot_specified0.53929.0.428511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43226715555140077699AG660924Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43237696595140475980GA698859Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43247680375140559532GC698871Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43257680385140580931CG698873Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43263512855140896402GA301552Uncertain_significanceNonsyndromic_Hearing_Loss,_Mixed0.00103.0.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43276831995140896599TC660930Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43285126785141336264GT501336Benignnot_specified0.63286..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43293513145142657621TC301396Likely_benignGlucocorticoid_resistance,_generalized..0.083870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43303513215142658156CA301406Likely_benignGlucocorticoid_resistance,_generalized..0.401560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43312145695145500084AC211128Benignnot_specified0.000540.002930.00220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43326841595145512951GC660876Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43336715575145515379CT660882Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43346841575145524514AG661069Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43356841505145533786AT661071Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43366841485145537535CT661081Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43376841465145539259GC660699Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43386841385145543579GA660705Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43396841285145552542TC660997Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43406732945147445023CG660897Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43412600485147450028CT251798Benign/Likely_benignNetherton_syndrome|not_specified0.036740.048220.066890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43426771085147450247AG660925Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43436676275147451416AG661089Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43441392545147466001GA142957Benign/Likely_benignNetherton_syndrome|not_specified0.023040.044230.052320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43456733975147474357AT660932Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43466732975147475627GA660721Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43476771165147478574CG660723Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43481392585147480080GA142961BenignNetherton_syndrome|not_specified0.231710.21190.348240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43496771185147486359CT660736Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43501392615147492461TC142964Benign/Likely_benignNetherton_syndrome|not_specified0.026340.044780.053910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43516744245147493780TG661102Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43526771395147498849CT661106Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43536676335147503820AC661129Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43541392635147504315AT142966BenignNetherton_syndrome|not_specified0.708580.808480.829270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43556742835147504905AG661132Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43563515415147506593AG295922Benign/Likely_benignNetherton_syndrome0.023550.024710.010180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43573515465147516598TC295931BenignNetherton_syndrome0.441470.411670.491011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43583515495147516762CG301666BenignNetherton_syndrome..0.491011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43593515535147516914AACTC295937BenignNetherton_syndrome..0.491011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43602259375148206440GA227753drug_responsesalbutamol_response_-_Efficacy|salmeterol_resp....0.420360.475640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43613515625148361720AAT301872Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43623515935148364355AG296006BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.802320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43633515945148364701CT296012Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.471650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43643516055148365234TC301704Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.509190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43653516095148365720CA301939BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.797320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43663516165148366571TC296023BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.62340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43673516225148367324AG297801BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.788140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43683516345148367643CT297822Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.461260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43693516435148368254TG301736BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.618010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43703516455148368451AG297828BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.798120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43713516585148369418GT302017Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.197280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43723516615148369508AT302031Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.493610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43733516645148369712CT301788Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.197880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43743516945148372884TC301849BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.529750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43753517485148375651CAC301874Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43763517585148376026CG301896Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.198280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43773517615148376163TG302127Uncertain_significanceMononeuropathy_of_the_Median_Nerve|Charcot-Mar......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43783517695148376982GA301906Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.492210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43793518015148378475GA301946Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.202880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43803518085148378784CT302199BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.529150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43813518355148380580AT297965Uncertain_significanceMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.007190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43823518395148381078AG301974Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.349640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43833518415148381138CT302232BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.990421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43843518435148381197GA302233BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.529750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43853518485148381318GA297978Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43863518665148382365CA297984Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.203470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43873518685148382635AG297996Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.203670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43883518745148383345CG301987Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar....0.291910.31270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43891302995148386525TG135746Benign/Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar...0.45971.0.383390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43906700775148389608GC661049Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43916733895148389763GA660956Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43926717205148392362AG660749Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43936726285148392538CT660966Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43941302985148407708AC135745BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar...0.97770.978470.990621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43951302975148407893CA135744Benign/Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar...0.23828.0.196290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43961302965148408101AG135743Benign/Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar...0.48470.445610.43710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43976700745148411369CT661150Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43986843595148432061CA661051Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43996843585148443080TC661057Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
440020395149212243GC17078BenignObesity,_variation_in.0.096190.109630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44013519485149238348TC298082Likely_benignRetinitis_Pigmentosa,_Recessive..0.539140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44023519545149238449AG302356Likely_benignRetinitis_Pigmentosa,_Recessive..0.546330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44033519625149239093CT296264Likely_benignRetinitis_Pigmentosa,_Recessive..0.55970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44043519705149239662TC298085BenignRetinitis_Pigmentosa,_Recessive..0.584060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44053519715149239702AG302383BenignRetinitis_Pigmentosa,_Recessive..0.596250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44063519725149239850AG296270BenignRetinitis_Pigmentosa,_Recessive..0.584270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44073519755149240216AAT302132Likely_benignRetinitis_Pigmentosa,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44081386325149323772GA142335Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.175460.199820.2490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44091386375149323906TG142340Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.20737.0.282550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4410655595149360630CT76467Benign/Likely_benignAchondrogenesis|Osteochondrodysplasia|Diastrop...0.01530.016920.007590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44111962095149360877TC193370BenignAchondrogenesis|Osteochondrodysplasia|Diastrop...0.993230.99277.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44123520465149362400TG302205BenignAchondrogenesis|Osteochondrodysplasia|Diastrop.....0.273960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44133520755149364780CT302455BenignAchondrogenesis|Osteochondrodysplasia|Diastrop.....0.992011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44143520885149365836GTG302486BenignAchondrogenesis|Osteochondrodysplasia|Diastrop......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44153521075149433120AG302554BenignHereditary_diffuse_leukoencephalopathy_with_sp.....0.116010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44163521145149433400GGC302563BenignHereditary_diffuse_leukoencephalopathy_with_sp.....0.452281|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44173521655149457678GA302347BenignHereditary_diffuse_leukoencephalopathy_with_sp...0.48070.515310.387381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44183521795149460553AG302657BenignHereditary_diffuse_leukoencephalopathy_with_sp...0.47370.487180.335261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44192587795149495395TC251818Benignnot_specified0.398970.347430.285340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44202587785149497177TC251819Benignnot_specified0.410660.35640.298920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44217127605149499618GA721302Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44222587765149499672TC251821Benignnot_specified0.281020.287120.236420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44234651965149677818GA454819BenignSpastic_paraplegia0.036830.034110.024361/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44243521895149737221TG296414BenignTreacher_Collins_Syndrome,_Dominant..0.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44251305705149759201CT136016Benign/Likely_benignnot_specified|Treacher_Collins_Syndrome,_Domin...0.022450.008750.022760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44261305715149772280CG136017Benign/Likely_benignnot_specified|Treacher_Collins_Syndrome,_Dominant0.17061.0.081470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44271305745149776232CT136020Benignnot_specified|Treacher_Collins_Syndrome,_Dominant0.210290.292180.224040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44281305755149776355GC136021Benign/Likely_benignTreacher_Collins_syndrome_1|not_specified|Trea...0.015310.023080.010780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4429307165150227998CT39673PathogenicInflammatory_bowel_disease_190.194920.19130.303710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44301671505150639409AG176964BenignTay-Sachs_disease,_variant_AB|not_specified|no...0.608640.66450.663940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44311671515150639439AG177227BenignTay-Sachs_disease,_variant_AB|not_specified|no...0.72290.762270.860220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44323522595150647239AG302730BenignTay-Sachs_disease,_variant_AB0.39860.444370.443490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44333522775150647956TC296480BenignTay-Sachs_disease,_variant_AB..0.710660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44343522785150648242CCA302473BenignTay-Sachs_disease,_variant_AB...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44353522815150648284TTC296485BenignTay-Sachs_disease,_variant_AB...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44363522845150648457GA302476BenignTay-Sachs_disease,_variant_AB..0.288941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44373522915150649153CT298381BenignTay-Sachs_disease,_variant_AB..0.464061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44383523005150649725TAATAT298400BenignTay-Sachs_disease,_variant_AB...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44393523285151304306GA296512BenignHyperekplexia..0.416130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4440481145155754192CG57278BenignDelta-sarcoglycanopathy|not_specified|Dilated_.....0.460460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44416700585155756299AG661163Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44426725295155756414GA660756Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44436720395155771356AG660763Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4444481255155771579TC57289BenignLimb-girdle_muscular_dystrophy,_type_2F|Delta-...0.377660.466050.485420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44456720405155771773AG661076Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44466720415155771879GA661077Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44476720425156074713AC661000Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44483523535156187928CT302542BenignDelta-sarcoglycanopathy|Dilated_Cardiomyopathy.....0.207271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44493524305156193118GA302910BenignDelta-sarcoglycanopathy|Dilated_Cardiomyopathy.....0.927121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44503524885156680685AG296664BenignLymphoproliferative_syndrome..0.833471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44512574335156887133AG251833BenignCongenital_ichthyosiform_erythroderma|not_spec...0.317290.50.442490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44522574365156898690AG251834BenignCongenital_ichthyosiform_erythroderma|not_spec...0.449350.534660.504590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44532574345156899869TC251835BenignCongenital_ichthyosiform_erythroderma|not_spec...0.972280.976710.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44543525265156900047CT303000Likely_benignCongenital_ichthyosiform_erythroderma..0.038740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44553525325156900534CA303001Likely_benignCongenital_ichthyosiform_erythroderma..0.038740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44563525385156900878AT302695BenignCongenital_ichthyosiform_erythroderma..0.505390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44573525435156901324TC298563BenignCongenital_ichthyosiform_erythroderma..0.906951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44583525485156901615TC303014Likely_benignCongenital_ichthyosiform_erythroderma..0.049320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44593525515156901701GT302697Likely_benignCongenital_ichthyosiform_erythroderma..0.024760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44603525545158742014GT303018BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_R.....0.920331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44613525695158742950TG298595BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_R.....0.359030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44626687915160762174CT661194Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44633525925161275302AG296742Likely_benignJuvenile_myoclonic_epilepsy..0.179510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44646706535161302728GA661208Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44656687905161309303AG661040Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44666689495161310002AG661209Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44672568165161322654TC251837Benignnot_specified0.052440.107620.076881|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4468934315161322889GA99338Benign/Likely_benignJuvenile_myoclonic_epilepsy|not_specified0.637860.619140.596051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44696817255161323872CT661046Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44703526085161324898AG302875Likely_benignJuvenile_myoclonic_epilepsy..0.581070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44713526145161325934AC302888Likely_benignJuvenile_myoclonic_epilepsy..0.580470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44723526375161494990GAG298652Conflicting_interpretations_of_pathogenicitySeizures|Generalized_epilepsy_with_febrile_sei......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4473934345161528280CT99341BenignSeizures|Familial_febrile_seizures_8|Generaliz...0.307090.285410.371610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44746817425161529369CT661109Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44755859035161529571AG576800Benignnot_provided.0.820580.821291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44766751855161529731GA661217Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44776802925161529808CT661221Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44786749895161576418CA661056Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44793526555161580983CT298702BenignGeneralized_epilepsy_with_febrile_seizures_plu.....0.379390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44803526565161581035TA302924BenignGeneralized_epilepsy_with_febrile_seizures_plu.....0.514580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44813526715161582493CATC296799BenignGeneralized_epilepsy_with_febrile_seizures_plu.....0.302320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
448212135167845791CT16252associationMemory_quantitative_trait_locus..0.520570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44833800305167913510GA368366BenignLeukodystrophy,_hypomyelinating,_9|not_specified0.62039.0.680310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44846836485167921389AG661245Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44856733985167928732AAATT661136Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44863800055167943827GA368381Benignnot_specified0.727660.677110.784150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44878021755169097474GC790535BenignImmunodeficiency_40...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44882602125169535522TC251840BenignPendred_syndrome|not_specified|Nonsyndromic_He...0.907580.90890.929511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44893527175169536055GA298785BenignPendred_syndrome|Nonsyndromic_Hearing_Loss,_Mixed..0.916731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44903527195169536150AG303136Likely_benignPendred_syndrome|Nonsyndromic_Hearing_Loss,_Mixed..0.868610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44913527295171760569AG303002BenignFrank_Ter_Haar_syndrome..0.68551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44923527385171761338CT303009Likely_benignFrank_Ter_Haar_syndrome..0.111220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44933527475171762100CA298798BenignFrank_Ter_Haar_syndrome..0.715861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44943527535171762442AAC296845BenignFrank_Ter_Haar_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44953527555171762575AG298803BenignFrank_Ter_Haar_syndrome..0.56470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44963527585171762777TC296848BenignFrank_Ter_Haar_syndrome..0.589460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44973527665171763533GGT298810BenignFrank_Ter_Haar_syndrome..0.56110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44983527705171763862TC303251BenignFrank_Ter_Haar_syndrome..0.552720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44993527745171764101GGC296852BenignFrank_Ter_Haar_syndrome..0.613420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45003527755171764120TC296861BenignFrank_Ter_Haar_syndrome..0.683310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45013527775171764158TC303090BenignFrank_Ter_Haar_syndrome..0.703080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45023527865171764665CT298829BenignFrank_Ter_Haar_syndrome..0.549320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45035937825171765540CA584845Uncertain_significancenot_provided0.000460.00016.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45042570585171785892AG251843BenignFrank_Ter_Haar_syndrome|not_specified|not_prov...0.723510.741290.782750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45052570565171849471GA251844BenignFrank_Ter_Haar_syndrome|not_specified0.261110.361270.37460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45063528315171881412GC303303Likely_benignFrank_Ter_Haar_syndrome..0.042530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45073528325171881423GA303304BenignFrank_Ter_Haar_syndrome..0.216650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4508448375172662024TC54004Benignnot_specified|Cardiovascular_phenotype0.404190.405220.535741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45092586575174156168TC251846BenignCraniosynostosis|Enlarged_parietal_foramina|Pa...0.75527.0.765780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45103528495174157096AG303322BenignCraniosynostosis|Enlarged_parietal_foramina..0.780950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45113528585174157583GGA298886BenignCraniosynostosis|Enlarged_parietal_foramina...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45123528625174157711AG303333BenignCraniosynostosis|Enlarged_parietal_foramina..0.775960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45133528635174157732TC298892BenignCraniosynostosis|Enlarged_parietal_foramina..0.775760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45143528645174157762GC298907BenignCraniosynostosis|Enlarged_parietal_foramina..0.829870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45155110815174870150CT501106Likely_benignnot_specified0.711990.680070.755391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4516163265176520243GA31365PathogenicCancer_progression_and_tumor_cell_motility.0.320980.299520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45176677295176630984TC661172Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45188021805176636545AGA790540BenignSotos_syndrome_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4519960355176636882CT101929BenignSotos_syndrome|Weaver_syndrome|History_of_neur...0.354140.299910.468050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4520960385176637149GA101932BenignSotos_syndrome|Weaver_syndrome|History_of_neur...0.100430.17646.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4521960425176637240GT101936BenignSotos_syndrome|Weaver_syndrome|History_of_neur...0.09934.0.228630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4522960435176637576TC101937BenignSotos_syndrome|Weaver_syndrome|History_of_neur...0.126330.198690.24960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45236704745176639304CG661112Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45246677325176710547CG660844Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45256736095176719409CA661176Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4526960735176721198TC101967BenignSotos_syndrome|Weaver_syndrome|History_of_neur...0.89897.0.771370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45273529255176726002TC297072BenignSotos_syndrome|Weaver_syndrome..0.763980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45283529325176726635GA298992BenignSotos_syndrome|Weaver_syndrome..0.229230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45293529465176727058GCCCGCC,G303412Uncertain_significanceSotos_syndrome|Weaver_syndrome...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
45303529945176831184CG299067Likely_benignFactor_XII_deficiency_disease|Hereditary_Angio....0.000730.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45312563105176831826CG251869BenignFactor_XII_deficiency_disease|not_specified|He...0.9769.0.93951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45323837785177031348TC368113BenignEhlers-Danlos_syndrome_progeroid_type|not_spec...0.632650.660840.661341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45336780085177031602CG661121BenignEhlers-Danlos_syndrome_progeroid_type|not_prov......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45346832735177034786TC661124Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45353775475177035964TC369819BenignEhlers-Danlos_syndrome_progeroid_type|not_spec...0.574810.590310.605031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45366784505177036043AG661130Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45373530095177419356CT299071Likely_benignCombined_Pituitary_Hormone_Deficiency,_Recessive..0.226640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45381964345177419967CT193595Benign/Likely_benignnot_specified|Combined_Pituitary_Hormone_Defic...0.238120.244980.204670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45393530165177422823CT303460Benignnot_specified|Combined_Pituitary_Hormone_Defic...0.55820.511350.506591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4540996475178409856CT105536not_providednot_provided..0.455871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4541996295178413816TC105518not_providednot_provided0.57690.60640.544530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4542996285178413947TC105517Benignnot_specified|not_provided0.568430.59970.535540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4543996275178415937AG105516Benignnot_specified|not_provided0.494460.532830.506990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45441981055178415982AG195266Benignnot_specified0.982160.995190.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4545996265178416063GA105515Benignnot_specified|not_provided0.488240.52564.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4546996255178416288GA105514Benignnot_specified|not_provided0.737660.724140.721651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4547934385178421770TG99345Benignnot_specified|not_provided0.635890.489060.551920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45483530485178538472GA299123BenignEhlers-Danlos_syndrome_dermatosparaxis_type..0.346250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45493530645178539400TC303530BenignEhlers-Danlos_syndrome_dermatosparaxis_type..0.804511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45503530735178540026AG299155BenignEhlers-Danlos_syndrome_dermatosparaxis_type..0.524561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45513530805178540656TG303573BenignEhlers-Danlos_syndrome_dermatosparaxis_type..0.523361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45526827065178552715GA660846Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45536831365178564499CT661277Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45542880855178581797CT272322BenignEhlers-Danlos_syndrome_dermatosparaxis_type|no...0.180670.311310.231230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45552880845178581859GA272321BenignEhlers-Danlos_syndrome_dermatosparaxis_type|no...0.186910.267050.228440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45563531295178634547GA297224Benign/Likely_benignEhlers-Danlos_syndrome_dermatosparaxis_type|no...0.173610.172240.135780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45573531305178634619CT303644BenignEhlers-Danlos_syndrome_dermatosparaxis_type|no...0.915270.929620.924521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45583531345178634672CT299197BenignEhlers-Danlos_syndrome_dermatosparaxis_type|no...0.325160.355420.431910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45596826865178635005CT661310Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45602260185179220638AC227754drug_responseaspirin_response_-_Toxicity/ADR..0.170131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45612591895179260153CT251873Benign/Likely_benignPaget_disease_of_bone|Paget_disease_of_bone_2,...0.597190.624790.693691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45622591915179260213GA251875Benign/Likely_benignPaget_disease_of_bone|Paget_disease_of_bone_2,...0.498460.611450.587261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45633531825179264731TC297272Likely_benignPaget_disease_of_bone0.619790.626240.68791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45643531865179264915GT297284Likely_benignPaget_disease_of_bone0.650170.632910.722841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45652630525180036871CG251885Benignnot_specified0.05567.0.086860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45662630445180043388GA251893Benignnot_specified0.252580.269970.240421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45672630365180047863CG251900Benignnot_specified0.953140.987590.960061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45682630335180048035TC251902Benignnot_specified0.054560.076430.096251|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45692630345180048056CT251903Benignnot_specified0.248540.242250.243211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45702630225180053090GA251914Benignnot_specified0.037230.052220.083270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45712630215180053097CT251915Benignnot_specified0.041230.053220.086060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45722630205180053307AG251916Benignnot_specified0.930390.981110.941491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45732630725180056044GA251922Benignnot_specified0.27540.299640.212461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45742630705180056863CT251925Benignnot_specified0.046620.033710.032350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45751603466396321CT170189AffectsSkin/hair/eye_pigmentation,_variation_in,_8..0.036740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
457676931361313980CG699313Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
457719321361611802GGGGC190378Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45784413262955802TC53300Benignnot_specified0.220280.264450.212860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
457937883563154871AC368891Benign/Likely_benignnot_specified|not_provided0.48770.548750.400560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458068082463157354CG661694Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458168063265109945CT662253Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458268062865144189TC661802Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458368062765144192CT662244Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458468063065144667CT662246Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458538003565260936AC370498Benignnot_specified|not_provided0.414260.357720.402961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458667627865261136GA655746Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458767627765261263CT661805Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458867623765261292GA662250Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458968062665261359AG662252Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459068063465261460AC662254Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459113729265431340AG140995BenignCombined_oxidative_phosphorylation_deficiency_...0.15216.0.235220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459268056465431571GA661812Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459368057265545816AG662256Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459435765066144857CA300849Likely_benignFactor_XIII_subunit_A_deficiency..0.093450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459535766266145692CT308466Likely_benignFactor_XIII_subunit_A_deficiency..0.142170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459635766366145726AG308467Likely_benignFactor_XIII_subunit_A_deficiency..0.523361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459725518666152137CG252445Benign/Likely_benignFactor_XIII_subunit_A_deficiency|not_specified0.221740.20870.193891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459825518566152140CT252446Benign/Likely_benignFactor_XIII_subunit_A_deficiency|not_specified0.049520.067590.072280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459925518366174866GA252448Conflicting_interpretations_of_pathogenicityFactor_XIII_subunit_A_deficiency|not_specified...0.192530.215960.240421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460025518266222249TC252449Benignnot_specified0.015220.009160.009780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46011653266318795CA31571Conflicting_interpretations_of_pathogenicityFactor_XIII_subunit_A_deficiency|Venous_thromb.....0.147760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460235768066320808TG300863BenignFactor_XIII_subunit_A_deficiency..0.881991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460368347367541611GC661960Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460466883467555634GGTTTA661964Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460568348767555666AG662338Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460613716767558318TC140870Benignnot_specified0.215980.195260.156150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460767220367563756GA662354Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46084495267563983TG54119Likely_benignnot_specified..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460967848167566386TC662389Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461067213067566415TC662321Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461125938167567970CT252531Benignnot_specified|not_provided0.782180.758640.772760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461267213267568354GT662362Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461367213367570963AG662330Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461468347567571327GT662334Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461567101567571874GA662336Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46164487067572262AG54037Benignnot_specified|Cardiovascular_phenotype|not_pro...0.785870.761440.774360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461767213467574805CT662341Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461867220467576368GA662393Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46194487767576527GA54044BenignCardiomyopathy|Arrhythmogenic_right_ventricula...0.748120.771790.735420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462067220567577079GA662370Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46214488667577260CT54053BenignCardiomyopathy|Arrhythmogenic_right_ventricula...0.268840.243830.275160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462267213567577354CA662345Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462368347667577744AG662347Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462467848267578343GC661994Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462525938367578819TG252533Benignnot_specified|not_provided0.753420.773160.740020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462625938467578823GA252534Benignnot_specified|not_provided0.778330.779880.764380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462767213767578970CT662353Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462867213867579311GT662000Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462967214967579363AT662355Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46304492567581636GA54092BenignCardiomyopathy|Arrhythmogenic_right_ventricula...0.194140.172410.240420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46314494767584617CT54114BenignCardiomyopathy|Arrhythmogenic_right_ventricula...0.302250.288060.211660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46324496767585967GC54134BenignCardiomyopathy|Arrhythmogenic_right_ventricula...0.688070.711670.709470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
463335797367586308CT304041BenignArrhythmogenic_right_ventricular_cardiomyopath.....0.273561|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
463435797467586386TCTCT308774Likely_benignArrhythmogenic_right_ventricular_cardiomyopath.....0.009190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4635369512610882100GA353741BenignHypoparathyroidism_familial_isolated..0.985621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4636402937612124587CG389713Benignnot_specified0.308360.319890.2481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
463716652612296255GT31691BenignHigh_density_lipoprotein_cholesterol_level_qua....0.234460.24740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4638262012615593240TC252214Benignnot_specified0.79223.0.888380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4639262009615663118TC252217BenignHermansky-Pudlak_syndrome|not_specified0.182940.177430.113820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
464015961616290761TA31000BenignGMP_REDUCTASE_POLYMORPHISM.0.54440.706270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4641128505616327615AG133954Likely_benignnot_specified0.70729.0.780150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4642682615624175124TC662024Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4643516888624291203TC501923Benignnot_specified0.482470.639270.516971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4644128343624503590CT133792BenignSuccinate-semialdehyde_dehydrogenase_deficienc...0.371210.31950.31470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4645356135624505221GA302268BenignSuccinate-semialdehyde_dehydrogenase_deficiency0.26080.224130.192690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4646356145624534193CA299675BenignSuccinate-semialdehyde_dehydrogenase_deficiency..0.380590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4647356175624535780GA306974BenignSuccinate-semialdehyde_dehydrogenase_deficiency..0.267970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4648517548624806594CT496515Benignnot_specified0.462770.460840.357831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4649517553624809936AT496900Benignnot_specified0.121330.131350.099040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4650499652624825511AG491076Benignnot_specified0.737850.807830.753991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4651508154624828490CT496434Benignnot_specified0.240910.198460.226841|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4652129225626091336TC134671Benign/Likely_benignHereditary_hemochromatosis|not_specified|not_p...0.345840.36860.426720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4653162166630774357GA171879not_providednot_provided..0.765781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4654380148630882203TC369052Benignnot_specified|not_provided.0.64170.629791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4655380149630882634CT369054Benignnot_specified|not_provided0.293460.32150.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4656380150630882781GT368843Benignnot_specified|not_provided0.29438.0.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4657380151630883920CT368851Benignnot_specified|not_provided0.293020.320310.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4658669590630884436AG662185Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4659669591630885821GA662048Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4660669592630886350CG662187Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4661669593630887311CT661678Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4662669594630887344TC662051Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4663676450630887780CCTGGGGCGGTGCAGGTGA661680Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4664380153630887988CT369066Benignnot_specified|not_provided0.294430.324680.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4665380154630888161TC370328BenignCombined_oxidative_phosphorylation_deficiency_...0.483160.601050.616211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4666380155630888169GA370350Benignnot_specified|not_provided0.293020.319650.222241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4667380157630890483GT369077BenignCombined_oxidative_phosphorylation_deficiency_...0.2940.324020.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4668380158630890569GT368868Benignnot_specified0.29424.0.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4669380159630890871TC368876Benignnot_specified|not_provided0.480680.605640.615821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4670380160630892322CT368601Benignnot_specified|not_provided0.295510.344550.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4671684325630892521GA662148Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4672669595630892592GC662056Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4673380162630893428GA368602Benignnot_specified|not_provided0.289350.329480.223041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4674380163630893728CT369083Benignnot_specified|not_provided0.653040.753010.707871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
467514907631274380TC29946risk_factorHIV-1_viremia,_susceptibility_to..0.367611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4676403084631379817TC389723Benignnot_specified.0.483560.582471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4677403085631379931GA389660Benignnot_specified.0.499980.583271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
467812389631542482CT27428risk_factorAlzheimer_disease,_susceptibility_to|Vascular_.....0.099041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4679356272631914935AG302401BenignMacular_degeneration|Atypical_hemolytic_uremic...0.863630.830550.855431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4680356318631929014AC307147BenignTrichohepatoenteric_syndrome|not_specified0.773950.769950.816691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4681356345631936668TC302482BenignTrichohepatoenteric_syndrome|not_specified0.782780.782610.839661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4682256286632006317CT252221Benignnot_specified.0.78912.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
468365608632006886GA76516BenignClassic_congenital_adrenal_hyperplasia_due_to_...0.23150.334080.214861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4684261115632011204GC252249Benignnot_specified.0.477830.461861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4685261173632020512TC252278Benignnot_specified0.017320.02280.006591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4686261162632026107CT252289BenignEhlers-Danlos-like_syndrome_due_to_tenascin-X_...0.685610.719220.696091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4687261159632029226AG252292Benignnot_specified0.634970.690680.639981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4688261156632029415TC252295Benignnot_specified.0.600820.598641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4689261152632030284GA252299Benignnot_specified.0.379120.218451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4690261150632032743GA252301Benignnot_specified0.358460.44010.398761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4691261136632050067TC252312Benignnot_specified0.47712.0.586261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
469295242632945530GC101141Benignnot_specified0.94048.0.979831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
469346568633131501GA55733Benign/Likely_benignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.017430.019340.006791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4694674800633132338GA661705Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4695674799633134392CA661712Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4696674781633136575CT662156Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4697674780633136638GA661724Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4698674779633137727CT662194Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4699674777633138746CAC662075Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
470046566633138955GA55731BenignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.721930.756280.805311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
470146564633139475TG55729BenignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.773310.786750.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4702674776633139662AG662077Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4703674775633140009TG662079Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4704674774633140983AG661743Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
470546562633141161AG55727BenignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.778440.787090.87821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4706262310633141253TG252332Benignnot_specified|not_provided0.53499.0.645171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4707674772633141389CT662088Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
470846560633141475CT55725BenignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.568830.600650.643171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4709262309633141920GC252333Benignnot_specified|not_provided0.76790.782330.869211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4710674770633142253CG662162Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4711674768633143948CG662101Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
471246558633144243TA55723BenignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.438370.478820.547131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
471346555633147589TG55720BenignOtospondylomegaepiphyseal_dysplasia,_autosomal....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4714675092633152865GA661751Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4715403518633272855GC389769BenignBare_lymphocyte_syndrome_type_1|not_specified0.607640.568150.591251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4716403519633283766TC389749Benignnot_specified0.546750.546520.534341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4717130526633408680GA135972BenignHistory_of_neurodevelopmental_disorder|not_spe...0.100880.104670.050120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4718669588633667965GT662170Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4719669587633679061AG662117Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4720671160633679807AG661775Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4721356425634393591TG306941BenignDiamond-Blackfan_anemia..0.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4722356434634393866GA302561BenignDiamond-Blackfan_anemia..0.070090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4723708924635201057AG722010Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4724261434635423489AG252336Benignnot_specified0.734120.720090.776561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4725261435635423662AC252337BenignFanconi_anemia|not_specified|not_provided0.73566.0.777961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4726261436635425416AG252338Benignnot_specified0.412040.496560.359631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
472794127635477025CG100027BenignLeber_congenital_amaurosis|Leber_congenital_am...0.842230.821470.838460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4728286865635479574GC271102BenignLeber_congenital_amaurosis|not_specified|Retin...0.89984.0.87440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4729226001635669983AG227758drug_responseantidepressants_response_-_Efficacy|citalopram.....0.777960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4730402546635764570GA389770Benignnot_specified.0.17045.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4731356545635791302GC302686Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.293730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4732356546635791408AAG307044Likely_benignNonsyndromic_Hearing_Loss,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4733356552635791635ATA300016Likely_benignNonsyndromic_Hearing_Loss,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4734257572636260858CT252342BenignCongenital_ichthyosiform_erythroderma|not_spec...0.432420.375370.418331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4735257570636274153CT252345BenignCongenital_ichthyosiform_erythroderma|not_spec...0.297170.263150.240420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4736257571636275458TC252346BenignCongenital_ichthyosiform_erythroderma|not_spec...0.660850.640170.648361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4737789885637186693CT710492Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4738414389638757615GA395757BenignPrimary_ciliary_dyskinesia0.028370.025010.020970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4739257631638771096TC252347Benignnot_specified0.144320.150250.081470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4740257626638885010TAT252348Benignnot_specified0.518210.438970.493210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4741402771638905957CT389763Benign/Likely_benignnot_specified|not_provided0.008230.005110.004190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4742257628638957771TC252350Benignnot_specified0.408270.400290.328470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4743257629638957853AG252351Benignnot_specified0.408350.394280.328670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4744356672639895410TC302841BenignCombined_molybdoflavoprotein_enzyme_deficiency..0.62340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4745356684642123317AC307228Likely_benignCone/cone-rod_dystrophy.0.690960.667730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4746356736642162388AG307298Likely_benignRetinitis_Pigmentosa,_Dominant0.513840.637470.584861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4747501953642162575AG493377Benignnot_specified0.860530.850380.878991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4748356749642664658GA302880Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.75140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4749356750642664676GA307353Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.754390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4750356756642665032GT307355Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.214460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4751356759642665135GT302916Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.214460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4752356762642665271GA300161Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.754390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4753356764642665490CT302934Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.754590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4754356765642665548TTAA307361Uncertain_significancePigmentary_retinal_dystrophy|Choroidal_Dystrop......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4755138906642666061TC142609Benign/Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop...0.77680.778980.757390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4756138905642666145CT142608Benign/Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop...0.930720.911680.941291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4757138904642666164GC142607Benign/Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop...0.77680.77740.756591/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4758255827642666293GA252355Benignnot_specified0.232820.219140.212060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
475992846642689755AG98753Benign/Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop...0.60680.577470.584470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4760356786642931627GTTTAG300174BenignPEX6_POLYMORPHISM|Peroxisome_biogenesis_disord......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
476192781642934500CT98688Benignnot_specified|not_provided0.59780.491020.493810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4762559074642934620CT549606Benignnot_provided0.59780.491040.494010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4763559075642935998GA549607Benignnot_provided0.599120.490450.49760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
476492791642942779AG98698BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.376670.377630.289740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
476592789642946490CA98696BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.375410.449350.331870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4766356808642946943GA300204BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|.....0.333870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4767260435643014298TTCC252368Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
476812223643738350CG27262risk_factorMicrovascular_complications_of_diabetes_1..0.673921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4769162168643826627CT171881not_providednot_provided..0.673921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4770357026644266648CCTT307681BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4771357032644266925TC307832BenignCombined_oxidative_phosphorylation_deficiency..0.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4772357033644266984GA300337BenignCombined_oxidative_phosphorylation_deficiency..0.206471/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4773357035644266999CTC300339BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4774357043644267650TTAGGGCACCCATACC307865BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4775357044644267728AATTTAT307869BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4776357045644267861CT307686BenignCombined_oxidative_phosphorylation_deficiency..0.867611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4777357048644267918AG303155BenignCombined_oxidative_phosphorylation_deficiency..0.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4778357050644267943CT307870BenignCombined_oxidative_phosphorylation_deficiency..0.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4779357055644268371TC303162BenignCombined_oxidative_phosphorylation_deficiency|...0.871140.94260.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4780357059644269193CT300361BenignCombined_oxidative_phosphorylation_deficiency_...0.678990.70150.582670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4781682696644269640GA661779Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4782682694644271661GA662242Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4783672773644273702CA661782Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4784682693644274451GA662137Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4785669454644280281TC662150Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4786506168645870999CAGC496577Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4787508561646047458CT496472Benignnot_specified.0.234550.196290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4788508092646047640TC496912Benignnot_specified|not_provided0.044460.046630.036141|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4789508560646048000TC502010Benignnot_specified.0.24980.221250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
47907916646672943AG22955risk_factorAsthma_and_atopy,_susceptibility_to|not_provided.0.803340.81030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
479156163646684222CT70802not_providednot_provided0.266490.303260.317490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4792357156647445784CT307805Uncertain_significanceFocal_segmental_glomerulosclerosis...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4793357157647445789AC300455BenignFocal_segmental_glomerulosclerosis..0.606230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4794357162647445927TA307991BenignFocal_segmental_glomerulosclerosis0.96713.0.952680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4795260181647563692CT252387BenignFocal_segmental_glomerulosclerosis|Focal_segme...0.97570.994150.983031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4796260183647567017GA252388Benignnot_specified0.030990.01160.040540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4797357183647592328GTG300480BenignFocal_segmental_glomerulosclerosis...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4798357222647594002TC308038BenignFocal_segmental_glomerulosclerosis..0.530350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4799357225647594183AAT307895BenignFocal_segmental_glomerulosclerosis...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4800357228647594302TC300504BenignFocal_segmental_glomerulosclerosis..0.941090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4801357235649398115CT300512BenignMethylmalonic_acidemia..0.329271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4802357290650811241TA303422BenignChar_syndrome..0.863221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4803357303650812015AACA308011Conflicting_interpretations_of_pathogenicityChar_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4804357319650812906GA308018BenignChar_syndrome..0.736021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4805357329650813332TC308129BenignChar_syndrome..0.93931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4806357358651480486GT308144BenignAutosomal_recessive_polycystic_kidney_disease..0.68670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4807357362651480853TC308048BenignAutosomal_recessive_polycystic_kidney_disease..0.754790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4808357368651481315TC308051BenignAutosomal_recessive_polycystic_kidney_disease..0.883391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4809357398651483505AG308176BenignAutosomal_recessive_polycystic_kidney_disease..0.996811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481096376651483961TC102270BenignAutosomal_recessive_polycystic_kidney_disease|...0.525830.562970.565690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481196372651491884TC102266BenignAutosomal_recessive_polycystic_kidney_disease|...0.523610.555040.553320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481296441651613177CT102335BenignAutosomal_recessive_polycystic_kidney_disease|...0.274030.404140.385980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481396438651618170TG102332Benignnot_specified.0.741630.859430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4814262421651640751CG252407Benignnot_specified0.301060.433750.400160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481596429651695647AT102323BenignAutosomal_recessive_polycystic_kidney_disease|...0.493620.386110.367610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481696423651720838TC102317BenignAutosomal_recessive_polycystic_kidney_disease|...0.354610.43390.538940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481796422651720872AG102316BenignAutosomal_recessive_polycystic_kidney_disease|...0.345460.434170.539740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4818262412651732628GA252416Benignnot_specified0.354530.434520.538740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481996421651732807CT102315BenignAutosomal_recessive_polycystic_kidney_disease|...0.53545.0.367610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4820262411651735261GT252417Benignnot_specified0.35338.0.537740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4821262406651799166TC252422Benignnot_specified0.679840.70150.774360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482296410651875250AC102304BenignAutosomal_recessive_polycystic_kidney_disease|...0.953870.987190.955871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482396399651890823GA102293BenignAutosomal_recessive_polycystic_kidney_disease|...0.392360.469760.354630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4824262399651891011TC252426Benignnot_specified0.45392.0.411940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4825262396651913240GA252429Benignnot_specified0.388740.464950.355630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482696386651914956GA102280BenignAutosomal_recessive_polycystic_kidney_disease|...0.388670.465210.355830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482796374651924774AG102268BenignAutosomal_recessive_polycystic_kidney_disease|...0.959170.98830.958271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482896407651938242AG102301Benignnot_specified0.272110.276630.329870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482996388651947237GA102282Benign/Likely_benignAutosomal_recessive_polycystic_kidney_disease|...0.295710.284410.354430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4830128968652303291CT134415Benign/Likely_benignJuvenile_myoclonic_epilepsy|not_specified0.10034.0.068890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
48312063652303361GA17102BenignMyoclonic_epilepsy,_juvenile_1|Juvenile_myoclo....0.060510.044331|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4832357489652357260CA300714BenignJuvenile_myoclonic_epilepsy.0.894670.899960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4833357498652358020AT308225Likely_benignJuvenile_myoclonic_epilepsy.0.901950.933110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4834357512652358319GA300722BenignJuvenile_myoclonic_epilepsy.0.894490.899960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4835357517652358887TTCA308241BenignJuvenile_myoclonic_epilepsy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4836357523652359558AG303678Likely_benignJuvenile_myoclonic_epilepsy.0.186410.129990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4837357527652360283TA308245Likely_benignJuvenile_myoclonic_epilepsy.0.654630.699080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4838357529652360545TC300752Likely_benignJuvenile_myoclonic_epilepsy.0.449150.279350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4839218139653134104CCACAG214787not_providednot_provided0.602330.503520.598040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4840439753653410037GA433587Benignnot_specified..0.069090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4841768101655142261GA699626Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4842795681656351973GA787557Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4843518378656426931CT508818BenignNeuropathy,_hereditary_sensory_and_autonomic,_...0.385940.406050.335260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4844518379656463410TC508819BenignNeuropathy,_hereditary_sensory_and_autonomic,_...0.381050.356210.328280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4845357539656480052TTAA308257BenignNeuropathy,_hereditary_sensory_and_autonomic,_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4846357558656482801CG303702BenignNeuropathy,_hereditary_sensory_and_autonomic,_...0.469250.388660.401760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4847357579656484758CT300790BenignNeuropathy,_hereditary_sensory_and_autonomic,_...0.423040.360960.336460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4848357616656505081GC308408Conflicting_interpretations_of_pathogenicityNeuropathy,_hereditary_sensory_and_autonomic,_...0.001770.00330.0030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
484993620664694354CT99524Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|Retiniti...0.361150.363240.349640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4850196616665016977TGAT193777BenignRetinitis_pigmentosa_25|not_specified|Retiniti......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4851137256665149185TA140959Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|Retiniti....0.286380.291331|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4852195937665300250CG193098Conflicting_interpretations_of_pathogenicityRetinitis_pigmentosa|Retinitis_pigmentosa_25|n...0.002410.004860.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
485393611665301504AG99515BenignRetinitis_pigmentosa_25|not_specified|Retiniti...0.774420.746970.781550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4854137272665612302AG140975Conflicting_interpretations_of_pathogenicityRetinitis_pigmentosa_25|not_specified|Retiniti...0.021460.035870.016170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
485593605665622463AG99509BenignRetinitis_pigmentosa_25|not_specified|Retiniti...0.667110.610680.646370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4856137268666005857TA140971Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.170830.161520.104230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4857137263666063513GA140966Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|Retiniti...0.681460.674630.651160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4858137262666112409AG140965Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|Retiniti...0.528210.516490.505991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4859137261666204945GA140964Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|Retiniti...0.16062.0.170331|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4860137260666204970CT140963Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|not_prov...0.00408.0.008590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4861357765670385709GA303862BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.645970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4862357791670926334AG308545BenignMultiple_Epiphyseal_Dysplasia,_Dominant|Stickl.....0.395770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4863258357670944465AG252455Benignnot_specified0.384820.381340.218650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4864677932670961745AG662196Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4865258353670961833TC252459BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.391510.375260.326680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4866258351670962039CT252460Benignnot_specified|not_provided0.18868.0.173320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4867258352670962044AG252461Benignnot_specified0.500230.448450.403360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4868677930670962219GA662260Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4869258350670963156TG252462Benignnot_specified0.43688.0.369210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4870258344670965125AC252467Benignnot_specified0.83723.0.87520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4871683421670966173AG661848Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4872683417670966794GA662291Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4873677940670970501AG661850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4874677939670972708TC661854Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4875678734670973152AC662262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4876677938670973200AT662200Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4877677937670976303AT662306Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4878677936670976661TG661862Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4879677935670978397TC661876Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4880260500672889472AG252483Benignnot_specified|Cone-Rod_Dystrophy,_Dominant|not...0.69112.0.75181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
488195655672892257AG101552Benignnot_specified|Cone-Rod_Dystrophy,_Dominant|not...0.974350.992270.974641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4882677182672945492CT662301Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4883677183672968609CT662302Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4884260498673102442CT252489Benignnot_specified|Cone-Rod_Dystrophy,_Dominant|not...0.213490.212420.158750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4885357862673102522ATA308639BenignCone-Rod_Dystrophy,_Dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4886357878673111454AG303974BenignCone-Rod_Dystrophy,_Dominant..0.443291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4887357879673111492AG303981Likely_benignCone-Rod_Dystrophy,_Dominant..0.112020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4888357882673111857TTA303985BenignCone-Rod_Dystrophy,_Dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4889357890673112380CA301012Likely_benignCone-Rod_Dystrophy,_Dominant..0.120010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4890138273674189574GA141976Benignnot_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4891138274674190448TC141977Benignnot_specified|not_provided0.206210.187130.208070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4892678137674191545GA662304Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4893671625674192422TG662307Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4894682640674201676AT662350Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4895671626674202160AC662272Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4896678514674202273TC662356Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4897357907674303829CT308706BenignSalla_disease..0.300920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4898357917674304415GC308717BenignSalla_disease..0.172520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4899357919674304607TC301029Likely_benignSalla_disease..0.068290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4900672112674309812CT661914Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4901672111674320391TA662283Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4902672110674324806GA662325Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4903672021674324901TC661917Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4904672109674325257TC662327Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4905672093674325403CT662329Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4906357925674348142TC301037BenignSalla_disease|not_provided0.045130.079390.06550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4907558969674351669AG549614Benignnot_provided0.04490.078370.06550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4908259341675841722AT252506Benignnot_specified0.882260.883350.886181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4909259338675844458CT252509Benignnot_specified|not_provided0.009750.00730.004190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
491045147676596728CT54314Benignnot_specified|not_provided0.241270.251170.147761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
491145130676624741CT54297Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.240970.287820.146971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4912358027676626756TC308845Likely_benignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom.....0.318891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4913358034676627600GTG301090BenignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4914358049676628564CT304111BenignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom.....0.550520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4915358056676628843TA301102BenignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom.....0.777160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4916358085680196498TC308889Likely_benignLeber_congenital_amaurosis..0.56470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4917167255680196848CT177374Benign/Likely_benignLeber_congenital_amaurosis|Leber_congenital_am...0.378420.316710.355230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4918167258680228541AG177112BenignLeber_congenital_amaurosis|Leber_congenital_am...0.8370.834590.890580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4919358109680228673TC308913BenignLeber_congenital_amaurosis..0.890380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4920358150680657086CG301166Likely_benignStargardt_Disease,_Dominant..0.087260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4921683382680837058AG662388Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
492296573680837239AG102466Benignnot_specified0.323010.443780.387781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
492396572680837253GT102465BenignMaple_syrup_urine_disease|not_specified..0.518371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4924683389680881289CG662411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
492596613680912746CT102506Benignnot_specified..0.696291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4926683390680913216AG662414Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4927683392681053107GA662417Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4928683394681053217GT662386Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4929358174681053642GA304288BenignMaple_syrup_urine_disease..0.715061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4930358176681053814TC304289BenignMaple_syrup_urine_disease..0.715461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4931358177681053825GA304303BenignMaple_syrup_urine_disease..0.715861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4932358178681053866CT301182BenignMaple_syrup_urine_disease..0.589861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4933358179681053916GT309048BenignMaple_syrup_urine_disease..0.958471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4934358185681054148TC309049BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4935358188681054252CT301194BenignMaple_syrup_urine_disease..0.399761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4936358190681054310CT309050BenignMaple_syrup_urine_disease..0.715461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4937358191681054326TC309058BenignMaple_syrup_urine_disease..0.715461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4938358196681054515GA304336BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4939358198681054663CG301200BenignMaple_syrup_urine_disease..0.68871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4940358202681054762AG301205BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4941358204681054965TC301207BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4942358206681055299AG309086BenignMaple_syrup_urine_disease..0.714861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4943358208681055331TC309088BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4944358209681055396GA309090BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4945358210681055413TC304346BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4946358212681055792GA304347BenignMaple_syrup_urine_disease..0.715861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4947358213681055803CT304349BenignMaple_syrup_urine_disease..0.715661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4948681218683880167CT655752Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4949672119683881740TC655753Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4950802247685473758CT790663BenignMulticystic_renal_dysplasia,_bilateral...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
495195391688182704GC101290BenignCongenital_disorder_of_glycosylation|not_speci...0.67411.0.645970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49524843688218600CCCACT19882risk_factorCONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IIf......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4953358221688221546AG304359BenignCongenital_disorder_of_glycosylation|Pontoneoc.....0.639180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4954358228688221892TG301220BenignCongenital_disorder_of_glycosylation|Pontoneoc.....0.638580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4955671612688226641AG662427Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4956683650688244648CT662396Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4957683649688244770TTTCTTA662019Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4958671595688255438TC662404Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4959358264697338598AT304408BenignMitochondrial_complex_I_deficiency..0.934111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4960358266697338648TA309128Likely_benignMitochondrial_complex_I_deficiency..0.291331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4961129692697339088CT135138BenignMitochondrial_complex_I_deficiency|not_specifi...0.892170.894420.933911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4962358272697339275CCA309036Benign/Likely_benignMitochondrial_complex_I_deficiency|not_specifi......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4963677882697345054GC662440Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4964681227697345233GA662041Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49653546706100837889TA305273BenignSchaaf-yang_syndrome..0.398760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49663546726100838124TA305275Likely_benignSchaaf-yang_syndrome..0.012181|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49674180196101215223TAT406785Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49681291696102247673TC134615Likely_benignnot_specified0.23920.25370.415140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49693547616107475278TTA305215Likely_benignCoenzyme_Q10_deficiency,_primary...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49706834536107533160TG661460Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49716834526107655119AG661389Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49726741006107781028GA661498Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49731303616107956095AG135808Benignnot_specified.0.988780.979631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49743548126108189328CT298570BenignPolycystic_liver_disease_1..0.929511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49753548136108189333TTGTC305479BenignPolycystic_liver_disease_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49763548216108189427TAT305322BenignPolycystic_liver_disease_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49773548256108189477TG298582BenignPolycystic_liver_disease_1..0.928711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49783548266108189515GA305329BenignPolycystic_liver_disease_1..0.924521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49793548426108190246CT300935BenignPolycystic_liver_disease_1..0.862621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49803548596108190976GTTTTTTG,GT305401BenignPolycystic_liver_disease_1...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
49813548616108191007TC305408BenignPolycystic_liver_disease_1..0.755791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49823548636108191114AAAACA300960BenignPolycystic_liver_disease_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49833548656108191203CT305512BenignPolycystic_liver_disease_1..0.969051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49843548686108191382AG305515BenignPolycystic_liver_disease_1..0.862421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49853548716108191510TG305516BenignPolycystic_liver_disease_1..0.863021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49863548886108192785AT305541BenignPolycystic_liver_disease_1..0.862821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4987954746108233929GA101373BenignPolycystic_liver_disease_1|not_specified0.875370.858880.855031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49883549216108279290GA305591BenignPolycystic_liver_disease_1..0.925721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49893549466108363688TC305473BenignOsteopetrosis..0.344051|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49903549546108364106AG301056BenignOsteopetrosis..0.344050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49913549616108364582TC305520BenignOsteopetrosis..0.218450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49923549696108364951TC301078BenignOsteopetrosis..0.218850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49933549766108365658TC305637BenignOsteopetrosis..0.476440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49947817556108985057GA710103Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49952203326110012714CT221621Benign/Likely_benignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.003170.008110.00160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49966681456110038102GA661063Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49976734406110048165CT661506Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49986734416110053721TG661070Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49996949806110053824GGT683117Uncertain_significanceCharcot-Marie-Tooth_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50002604516110059510CA252050Benignnot_specified0.319060.38440.338060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50016681466110059954GA661491Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50026801796110062873TG661500Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50036816686110085366GT661393Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50046801816110085423TC661395Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50052604476110106234AG252054BenignCharcot-Marie-Tooth_disease,_type_4J|Amyotroph...0.51423.0.358830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50066705276110107197GA661436Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50076801846110110554AC661442Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50086705286110110943GT661078Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50092604496110146303GA252056BenignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.321470.428870.395770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50103550526110146588CT298744BenignCharcot-Marie-Tooth_disease_type_4|Amyotrophic.....0.448280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50114035656111901453GT389644Benignnot_specified0.839540.853610.931710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50123550546112375307AG298749BenignProgressive_pseudorheumatoid_dysplasia..0.238620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50133550606112382313GT301225BenignProgressive_pseudorheumatoid_dysplasia0.336150.260620.298920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50146727456112430886TC661518Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5015444056112435264TG53572BenignDilated_cardiomyopathy_1JJ|not_specified0.257190.239290.240020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5016444066112435273AC53573BenignDilated_cardiomyopathy_1JJ|not_specified0.25811.0.240020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50176727446112435444GGAAT661450Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50186727436112435682GA661503Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50196727426112435796GC661082Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50206730486112435807GT661084Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5021444016112435912AT53568BenignDilated_cardiomyopathy_1JJ|not_specified0.304940.267130.281750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50226785246112436198GT661530Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50236785056112436821GA661514Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50246711216112443134GA661521Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50256711206112450351GC661527Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50266711196112450520TC661477Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50276835906112456123CAGGTC661535Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50286727086112457145AT661483Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50296727076112457156TC661550Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5030443776112457383GC53544BenignDilated_cardiomyopathy_1JJ|not_specified0.22205.0.210461/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5031443766112457390CT53543BenignDilated_cardiomyopathy_1JJ|not_specified0.751350.769150.839861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5032443756112457471GA53542BenignDilated_cardiomyopathy_1JJ|not_specified0.752730.769370.840461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50336711186112460541GA661488Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50346730476112462882GA661543Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50356779866112463076TC661107Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50366730446112469179TC661561Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50376711176112471688GC661590Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50386730426112472005AG661591Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50396711166112476210TC661501Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50406785006112477139GC661128Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5041443486112493872AG53515BenignDilated_cardiomyopathy_1JJ|not_specified0.648780.664920.758390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50426784996112499656GT661618Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50436730106112506375GA661620Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50446711156112506583GT661508Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50451779766112508769TGGT178204Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50466727026112537497AG661646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50473550886116441222AGA301242Likely_benignMetaphyseal_chondrodysplasia.0.026420.003991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50482562596116441229TTGGG252058BenignMetaphyseal_chondrodysplasia|Metaphyseal_chond......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50492562606116441646CG252060BenignMetaphyseal_chondrodysplasia|Metaphyseal_chond...0.16093.0.213661|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50501621656116443735TA171878not_providednot_provided..0.445491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50512562626116446576AG252061BenignMetaphyseal_chondrodysplasia|Metaphyseal_chond...0.497310.380460.445491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50526834696116720129TA661630Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50533846846116720487CT368304Benignnot_specified0.260650.224320.136580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50546785826116754277GA661182Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50556781116116754456GT661187Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50561650616116950833TC174342BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.698830.646980.710060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50571650626116951678AC174480Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.111260.090060.135380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50582570506116951761CG252066Benignnot_specified0.054820.064480.067890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50593551306116954040AC305786Likely_benignPrimary_ciliary_dyskinesia..0.090460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50607696916117113765TTTCC699269Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50614033286118869423AC389721Benignnot_specified..0.018970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50623551416118880640TG298827Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.394370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50633551766121769905AAT301331BenignSyndactyly|Oculodentodigital_dysplasia|Hypopla......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50643551916123537837AG298869BenignCatecholaminergic_polymorphic_ventricular_tach.....0.484030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50653552066123539609CT301350BenignCatecholaminergic_polymorphic_ventricular_tach.....0.37580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50663552096123539731GA301354Uncertain_significanceCatecholaminergic_polymorphic_ventricular_tach...0.000670.00044.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50672599156123539904CT252068Benignnot_specified0.421240.425350.3760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50686748266123580660CT661633Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50696748256123589106CT661570Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50702271146123594510TTA229391Benign/Likely_benignCatecholaminergic_polymorphic_ventricular_tach......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50716808156123637909CT661681Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50726748186123658680AG661638Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50732271116123658825GT229396BenignCatecholaminergic_polymorphic_ventricular_tach...0.123490.27490.293730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50746748166123673455GT661686Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50752271106123687288AC229399BenignCatecholaminergic_polymorphic_ventricular_tach...0.92551.0.93931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50766748146123687432TC661647Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50776808326123698544GA661218Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50782271066123699042TC229404Benign/Likely_benignCatecholaminergic_polymorphic_ventricular_tach...0.354420.342310.272171|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50792599146123702499GA252069Benignnot_specified0.303450.473530.476240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50806780386123818095GA661596Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50816747936123818580AG661599Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50826781596123818628GC661226Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50836808136123825367TC661232Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50842271236123833457GC229411BenignCatecholaminergic_polymorphic_ventricular_tach...0.842450.825880.843251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50856808116123837617AG661236Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50866748236123850194GA661691Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50876808126123850730AG661655Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50886748216123851447TA661657Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50896748176123851538GC661248Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50906748156123851590GA661693Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50916748136123851610GA661697Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50926747966123851865AT661699Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50936748696123868288AG661701Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50946748676123869459AG661640Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50953552256123869769TAAAT298899Uncertain_significanceCatecholaminergic_polymorphic_ventricular_tach......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50966747916123869906GT661711Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50976747906123891882GA661671Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50986748446123892337GA661716Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50996840206129371533GA661722Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5100929556129381026CA98862BenignMerosin_deficient_congenital_muscular_dystroph...0.947330.957840.93671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51012560796129465020GA252071Benignnot_specified|not_provided0.254540.214580.24740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51026829046129465422GA661723Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51036829076129468288AT661658Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51046689106129469813CA661266Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51056829156129486913TC661659Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51066829176129498736AC661682Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5107929436129571330GA98850BenignMerosin_deficient_congenital_muscular_dystroph...0.269720.182760.270970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51086829036129571488AT661268Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51096714356129591515CT661685Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51106829066129600962GA661684Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51116829096129612563GT661692Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51126829116129612624CT661284Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5113929496129612808AG98856BenignMerosin_deficient_congenital_muscular_dystroph...0.258420.26830.31390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51142560636129619059GA252086Benignnot_specified|not_provided0.08420.134580.182510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51156829136129619150GA661729Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51166829146129621725AG661698Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51172560666129633970TTGT252088Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5118929516129634255GA98858BenignMerosin_deficient_congenital_muscular_dystroph...0.227740.2190.355231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51196829216129634426GA661702Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5120929526129635800GA98859Benign/Likely_benignMerosin_deficient_congenital_muscular_dystroph...0.091110.068730.120010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51216714526129641374TC661700Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51226829246129641510GC661703Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51231966606129670493CT193821Conflicting_interpretations_of_pathogenicityMerosin_deficient_congenital_muscular_dystroph...0.0030.003340.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51246829206129704589CT661740Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51252186576131948816TTA215327Benign/Likely_benignHistory_of_neurodevelopmental_disorder|not_spe......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51263553476132203470ATA299023BenignArterial_calcification,_generalized,_of_infanc......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5127135906132212694AG28629BenignObesity|Arterial_calcification,_generalized,_o.....0.554710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51283553776132212742AC299056BenignArterial_calcification,_generalized,_of_infanc.....0.412740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51293553816132212808CT301463BenignArterial_calcification,_generalized,_of_infanc.....0.553710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51303553986132213623GC301470BenignArterial_calcification,_generalized,_of_infanc.....0.647560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51313554246132215375CT299088BenignArterial_calcification,_generalized,_of_infanc.....0.567490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5132447736133789728GA53940Benign/Likely_benignnot_specified|Cardiovascular_phenotype|Dilated...0.382980.341690.409550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51336763386133802542GA661797Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51343554486133849966CT299116Likely_benignDilated_Cardiomyopathy,_Dominant|Nonsyndromic_...0.332690.434320.471050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51353554536133851207TA299121Likely_benignDilated_Cardiomyopathy,_Dominant|Nonsyndromic_.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51363554556133851377AG299127Likely_benignDilated_Cardiomyopathy,_Dominant|Nonsyndromic_.....0.834671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51373554676133852245GA305907Likely_benignDilated_Cardiomyopathy,_Dominant|Nonsyndromic_.....0.011980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51383554776133852957TC306198Likely_benignDilated_Cardiomyopathy,_Dominant|Nonsyndromic_.....0.028550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51391328716135426573AG136620Likely_pathogenicFetal_hemoglobin_quantitative_trait_locus_2..0.175320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5140957576135639644CT101654BenignJoubert_syndrome|Joubert_syndrome_3|not_specified0.583130.628640.594851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51411283266135716008TC133775Benign/Likely_benignJoubert_syndrome|not_specified|not_provided0.018580.026520.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51422608396135763866GA252135BenignJoubert_syndrome|Joubert_syndrome_3|not_specified0.820280.910610.822881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51436679616135778371AG661803Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51441666646135787184CT177234Benign/Likely_benignnot_specified|not_provided0.002390.003980.0020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51456739606135813251GT661813Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51464024206136582497GT389734Benignnot_specified.0.49764.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51478022746137166682GA790592BenignRhizomelic_chondrodysplasia_punctata_type_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51484029736137325901TAATA,T389720Benignnot_specified...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
51491339906139197609GA137729not_providednot_specified0.266910.287640.276160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51508022786142718801GA790596BenignLethal_congenital_contracture_syndrome_9...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51518022796142758631AG790597BenignLethal_congenital_contracture_syndrome_9...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51522591056143784031ATA252147Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51531674586143792078CG177938Benignnot_specified|not_provided0.309930.272570.323680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51542591086143806276AG252150BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.487160.442840.570890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51553555856143810909AG306045Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.128990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51563556596144512671TTA306156BenignFamilial_hemophagocytic_lymphohistiocytosis...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51576707326146007166GA661845Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5158953066146056476GC101205BenignSeizures|Lafora_disease|not_specified|not_prov...0.69556.0.653360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51596707316146056801GA655716Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51606707306146056848TC655717Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51616681326146057289CT661806Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
516220626149721690GA17101risk_factorDiabetes_mellitus,_insulin-dependent,_5.0.555080.645970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51633556746150710632AG306195Conflicting_interpretations_of_pathogenicityCongenital_hypothyroidism|not_provided0.009610.003210.009380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51642575846150716696TC252155BenignIodotyrosine_deiodination_defect|not_specified0.920940.861470.872011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51653556896150719710CT306479Likely_benignCongenital_hypothyroidism..0.332870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51663557076150720439CT306245BenignCongenital_hypothyroidism..0.87681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51673557106150720571TG299312BenignCongenital_hypothyroidism..0.800721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51683557146150720908TC299319BenignCongenital_hypothyroidism..0.632791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51693557156150720920GA306246Uncertain_significanceCongenital_hypothyroidism..0.010981/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51703557316150721445AG306512Likely_benignCongenital_hypothyroidism..0.294331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51713557346150721724CAC306278Likely_benignCongenital_hypothyroidism...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51723557386150721850GA306280Uncertain_significanceCongenital_hypothyroidism..0.020571/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51733557406150721882CT306538Likely_benignCongenital_hypothyroidism..0.292131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51743557426150722144AG306289Uncertain_significanceCongenital_hypothyroidism..0.020570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51753557556150723028GA306542Likely_benignCongenital_hypothyroidism..0.090661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51763557586150723368AC306545BenignCongenital_hypothyroidism..0.797721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51773557596150723408GA299355Likely_benignCongenital_hypothyroidism..0.091251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51783557606150723616AG299359Likely_benignCongenital_hypothyroidism..0.291731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51793557616150723668GA299361Likely_benignCongenital_hypothyroidism..0.291731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51803557646150723812TC301822Likely_benignCongenital_hypothyroidism..0.291731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51813557666150724047AACTGGGGGTGATTCAC301834BenignCongenital_hypothyroidism...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51823557676150724064AC299366Likely_benignCongenital_hypothyroidism..0.37721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51833557706150724563GA306570Uncertain_significanceCongenital_hypothyroidism..0.021571|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51843557726150724706CA299376Likely_benignCongenital_hypothyroidism..0.111221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51853557806150725086TAT301838Likely_benignCongenital_hypothyroidism...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51863557936152442821CA306600BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst.....0.195890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51873557946152442903CTC306312Uncertain_significanceCerebellar_ataxia|Emery-Dreifuss_muscular_dyst......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51883558036152443389CT299385BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst.....0.195890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51891304336152453291GA135879BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.054440.051330.025760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51902621946152461048CTGTTC252156Benignnot_specified|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51912621936152461061GA252157Benignnot_specified|not_provided0.439260.402280.444490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51921943056152469329GC191468Benign/Likely_benignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.000380.0006.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51936702126152476952GC661868Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51946702116152522812TG661430Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51956702106152523143GA661874Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51966702096152534946TA661827Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51976702066152536374TA661898Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51986702056152539181CT661891Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51996839736152539857TC661895Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52001304196152540278AC135865Benign/Likely_benignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.993080.992280.995611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52016702016152542868GT661922Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52026702006152546740GA661927Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52036701996152547151TC661468Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52046701986152552375GA661833Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52052621786152555112CT252170BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.168770.237450.208871|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52066839716152556258TC661469Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52072621776152558111TTA252171Benign/Likely_benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52086701966152560478CA661841Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52096701956152560916GA661843Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52106701926152561045CT661478Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52116701916152565897TC661930Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52126839536152566105AG661847Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52132621766152570415GA252172Benignnot_specified0.623890.65780.680711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52146701906152576591AG661920Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52156701886152590617TG661485Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52166727546152602726GA661925Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52176839656152604821AG661950Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52186839626152604844AG661938Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52196727536152615042GT661941Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52206701876152622876TA661860Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52212621726152629586GA252176Benignnot_specified|not_provided0.461560.500110.457471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52226701856152629815CT661954Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52236701846152638209AG661489Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52246701836152638239TC661965Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52256839506152638412AG661969Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52266839526152646693TC661499Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52271304086152647681AT135855BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.810470.779740.81471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52281304046152652034AT135851BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.795860.775970.803321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52292621606152653037TC252183BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.48630.460790.413140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52301303996152658142TC135846BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.788180.754680.793131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52312621586152658191TC252186Benignnot_specified|not_provided0.800630.758420.790141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52326701776152658216AG661865Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52336701736152660310AG661510Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52341303986152660451GA135845Benign/Likely_benignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.116180.11420.073280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52356839496152660837GT661984Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52361303976152665261CA135844BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.567280.576150.545531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52376839476152665628CT661988Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52386839456152667931TA661875Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52396839436152668628CG661890Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52402630756152671475AC252188BenignSpinocerebellar_ataxia,_autosomal_recessive_8|...0.596190.584620.587461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52416701716152671553AG661897Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52423558856152671919GGA306415BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52436701706152671975AG661991Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52446701696152672031TC661953Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52456701686152672073TC661522Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52466701676152673043GA661955Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52472621546152673147GA252189BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.578270.5790.56591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52482621536152673519AC252190Benignnot_specified|not_provided0.5796.0.567491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52496839396152674089TG661901Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52506839386152674132TC661904Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52516701656152675054TC661957Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52526839356152675137CT661995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52531303936152675854AG135840BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.581190.579940.568291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52546701626152683108AG661528Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52556701616152683183GT661916Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52566701606152683199GA661919Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52571303886152683413GT135835BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.648090.654120.659151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52582622066152688567CT252193Benignnot_specified|not_provided0.932260.873770.863621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52592622046152690559GA252195Benignnot_specified|not_provided0.462790.48180.410941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52601304536152694184TC135899BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.52883.0.468251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52616839346152702821GA661979Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52626839286152712133CA661929Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52636701536152770435TC661603Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52642621646152793412CA252207Benignnot_specified|not_provided0.783020.765730.855230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52656701516152826627CT662098Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52666838946152949109AG662107Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52676701506152949230TG661628Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52687741866153077332CT699401Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
526995386154360797AG24577drug_responseDrugs_used_in_opioid_dependence_response_-_Dos...0.096970.18560.223440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52706716156158536116AT661629Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52716807816158539828AG662009Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52726807786158541175GA662011Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52733877716158549156AG370286Likely_benignnot_specified.2e-05.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52746717026158568161GA661635Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52756807796158569686GA662130Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52761390946158569886TC142797Benignnot_specified0.413410.470850.400560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52776717406158570024AAT661642Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52781390936158571501GA142796Benignnot_specified|not_provided0.705140.717350.713861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52796716146158571655GC662145Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52806761936158571706GC661650Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5281147516160113872AG29790drug_responseSUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascu....0.502390.410740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52824034486160560897CTGGTAAGTC389722Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52836922026161152240GA679944BenignOtitis_media,_susceptibility_to...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52843559986161769835TC302100Likely_benignParkinson_Disease,_Juvenile..0.057710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52853560066161770479GA299579Likely_benignParkinson_Disease,_Juvenile..0.098440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52862594336162622304AG252218Benignnot_specified0.940340.932920.950480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
528781816166574246GA23220risk_factorNeural_tube_defects,_susceptibility_to..0.797320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52886695036166796665CT662016Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52896826256166796720TC662113Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52906826246166796832CG662127Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52913560276167343141GA302139Benign/Likely_benignLeukoencephalopathy,_cystic,_without_megalence...0.08781.0.075480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52923560326167344583AG302143BenignLeukoencephalopathy,_cystic,_without_megalence...0.239970.173090.184510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52933560386167369650GA299616Likely_benignLeukoencephalopathy,_cystic,_without_megalence...0.052420.040120.023160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5294127136169635010GA27752risk_factorLumbar_disc_herniation,_susceptibility_to0.300980.368430.355631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52957681236169972627GA699457Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52963807866170162515AC368809Benignnot_specified0.212590.15030.207070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52976681346170179698TC662154Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52981305616170878793TC136007Likely_benignnot_specified0.553590.531910.614621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52991937307299850GT190893Benignnot_specified0.518180.473530.531150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53001937317299881AG190894Benignnot_specified0.50679.0.525360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53012609397780980TG252915Benignnot_specified0.791830.83850.758991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53022609227794471AG252920Benignnot_specified0.838720.833340.826681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53032609307810219TC252936Benignnot_specified0.431950.430430.391371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53042609327814788GA252938Benignnot_specified0.626940.621090.668731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
530579206771786120GA710923Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
530659128672552881AAGATG582279Uncertain_significancenot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
530725727172566028GA252779Benignnot_specified0.043710.040390.019970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
530825727272566433GA252780Benignnot_specified0.06140.067130.035140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
530958549072577781TC576963Benignnot_provided0.438030.389480.461460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531044689672578237TCCT441075Benignnot_specified|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531158549272583328CT576970Benignnot_provided0.151340.178490.096250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531240247772946461TC389742Benignnot_specified0.546590.516310.596450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531340247972962753GA389781Benignnot_specified0.634640.679510.505391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531440248072969680GA389794Benignnot_specified0.171460.187910.102040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531540248172976767GA389822Benignnot_specified0.14847.0.090660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531674298074801861CT750665Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531777829475396916GA777862Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531813506576026775TC138804BenignHereditary_nonpolyposis_colorectal_cancer_type...0.870390.851390.883191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53194170376026865TC50142BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.02076.0.010980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
532059592076035021CA586981Benignnot_specified..0.149160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53219137176035507CT96846BenignLynch_syndrome..0.151760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53223669376036980GC45354BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.82377.0.831271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53239128076048804GC96755BenignLynch_syndrome..0.156150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53249128476048973CA96759BenignLynch_syndrome0.24150.221180.232030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5325682708710978789AT662146Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5326682704710979396AG662578Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5327359485716127297GT302341BenignCongenital_Muscular_Dystrophy,_alpha-dystrogly.....0.333670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5328359491716127845GA302352Uncertain_significanceCongenital_Muscular_Dystrophy,_alpha-dystrogly.....0.011980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5329359547716129172AG305641BenignCongenital_Muscular_Dystrophy,_alpha-dystrogly....0.994740.996411|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5330359556716129643TC310607BenignCongenital_Muscular_Dystrophy,_alpha-dystrogly.....0.81210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5331359566716130332CA302392BenignCongenital_Muscular_Dystrophy,_alpha-dystrogly.....0.829871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5332359582716131260CT310459BenignCongenital_Muscular_Dystrophy,_alpha-dystrogly.....0.796331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5333257460716131286GC252661Benign/Likely_benignnot_specified|Congenital_Muscular_Dystrophy,_a...0.0403.0.023361/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5334682001716255602AT662925Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5335682000716298434TC662835Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5336681997716298438TG662363Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5337681995716298766AAT662840Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5338683645716347827AT662364Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5339681994716348059TC662850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5340681979716461092TC662379Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5341403464717854575GGAA390597Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5342402927718767343AG389811Benignnot_specified0.235070.311740.329870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5343402925718993870CT389817Benignnot_specified0.768750.767920.773561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5344178721721582917CT174188Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.083470.091560.06130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
534593682721582963GATT99585Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
534693693721599233CT99596BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.45360.468310.542930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5347163097721628237CT174192BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.990130.990430.990621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
534893684721630982AG99587BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.43460.434780.530350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5349178725721640361TC174059Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.351930.352920.220450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5350163100721640405AG174194BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.815290.788670.767771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5351163102721641218GA174195BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.800670.784680.753791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
535293687721658855AG99590BenignPrimary_ciliary_dyskinesia|not_specified0.512610.488950.56190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
535393688721659554AATTAAT99591Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
535493690721659645TC99593BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.398610.395880.423320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
535593692721723573AT99595Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified0.226290.213130.226840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5356163110721775443GA174201BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.8575.0.755390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5357163112721778449CT174202BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.664760.640860.539540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5358163113721779278AG174068BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.531380.53410.37280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5359163121721893993GT174075BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.598990.570470.459470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5360163126721901566TC174212BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.757710.725540.634391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5361178735721924014AG174079BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.71675.0.62241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5362178739721939032CA174216Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.25408.0.193491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5363695364721940815CT683887Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5364359702721940960AG310581Likely_benignPrimary_ciliary_dyskinesia..0.215461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5365359713722980929AAAC302509BenignHypomyelination_and_Congenital_Cataract...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5366359719722981404TG305783BenignHypomyelination_and_Congenital_Cataract..0.225040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5367359721722981528TC310823BenignHypomyelination_and_Congenital_Cataract..0.427520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5368359725722982207TC302520BenignHypomyelination_and_Congenital_Cataract..0.427720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5369359730722982547GA310601BenignHypomyelination_and_Congenital_Cataract..0.220651|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5370359743722983600TC305847BenignHypomyelination_and_Congenital_Cataract..0.225040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5371359745722983702AT302533BenignHypomyelination_and_Congenital_Cataract..0.667131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5372359749722983890TC305881BenignHypomyelination_and_Congenital_Cataract..0.672131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5373359758722984772AGCA302539Uncertain_significanceHypomyelination_and_Congenital_Cataract...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5374359760722984824TC302544BenignHypomyelination_and_Congenital_Cataract..0.652951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5375359762722984967AG310888BenignHypomyelination_and_Congenital_Cataract..0.202480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5376706630722999894AC692215Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
537721726723015831TC34578BenignHypomyelination_and_Congenital_Cataract|not_sp...0.344510.373820.37481|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5378359798723164701CT310950Benign/Likely_benignPERCHING_syndrome|Retinitis_Pigmentosa,_Dominant0.458150.353750.420330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5379802302723195555CTTTATC790717BenignPERCHING_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5380359825724738164CG305960Likely_benignNonsyndromic_Hearing_Loss,_Mixed..0.120010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
538144840724742436TC54007Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Mixed0.148010.196120.201881|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5382227286724747802CT229594Likely_benignnot_specified0.000310.00017.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
538344844724758795TC54011Benignnot_specified|Nonsyndromic_Hearing_Loss,_Mixed0.537370.571160.737621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5384359877725159184TC310733Likely_benignThrombocytopenia..0.778160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5385359878725159211AT306005Likely_benignThrombocytopenia..0.473040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5386359896725160369TC310753Likely_benignThrombocytopenia..0.015770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5387359907725160988AG310762Likely_benignThrombocytopenia..0.43910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5388359922725161602AG306027Likely_benignThrombocytopenia..0.015770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5389359923725161614AATGTT306034Likely_benignThrombocytopenia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5390359953727134003GT302746Likely_benignAthabaskan_brainstem_dysgenesis|Bosley-Salih-A.....0.039740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5391369585727135314CT353814BenignMicrotia,_hearing_impairment,_and_cleft_palate0.730430.7660.780751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5392432169730054488CCTTC425750Conflicting_interpretations_of_pathogenicitynot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5393683987730634004TC662895Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5394258532730634661CG252786BenignPeripheral_axonal_neuropathy|Charcot-Marie-Too...0.73988.0.649360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5395258537730643069CA252787Benignnot_specified0.491410.551770.399160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5396681750730652090CT662916Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5397683989730657193AG662934Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5398681718730662237GA662938Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5399258536730673345CT252795BenignPeripheral_axonal_neuropathy|Charcot-Marie-Too...0.489790.552540.404150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5400360021730673512TAT311094Uncertain_significancePeripheral_axonal_neuropathy|Charcot-Marie-Too......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5401226023730726777AT227761drug_responseselective_beta-2-adrenoreceptor_agonists_respo.....0.415340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5402440011733060946AG433763Benignnot_specified0.71710.680690.666931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5403167609733134883TC177381Benign/Likely_benignRetinitis_pigmentosa_9|not_specified|Retinitis...0.167850.207850.175520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5404360045733136983GA311120BenignRetinitis_Pigmentosa,_Dominant0.9940.993760.996611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5405360051733169258CG306176Likely_benignBardet-Biedl_syndrome..0.157950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5406360055733169406GA306180Likely_benignBardet-Biedl_syndrome..0.046731|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5407360059733169660TC306185Likely_benignBardet-Biedl_syndrome..0.148760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5408263126733192502AG252797Benignnot_specified0.155540.188520.157550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5409802303733385852CT790719BenignBardet-Biedl_syndrome_9...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5410263117733388713GA252807Benign/Likely_benignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.175530.204150.171330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5411360112734125420GT302890BenignDiaphanospondylodysostosis0.24727.0.18930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5412360118734192762GC306226BenignDiaphanospondylodysostosis0.90305.0.910141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5413360138734194102AG311236BenignDiaphanospondylodysostosis..0.266570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
54142192734818113AT17231risk_factorAsthma-related_traits,_susceptibility_to,_2.0.446550.467450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5415518385735293193AG508825BenignAtrial_septal_defect_4|Cardiovascular_phenotype0.746270.676680.693890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5416260759737901581GA252825Benignnot_specified0.934720.888540.836861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5417260762737903904CT252827Benignnot_specified0.79082.0.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5418164801737907304TC174226Benignnot_specified0.78710.738280.743411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5419164804737924737TG174093Benignnot_specified0.4411.0.553321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5420260754737924879AG252837Benignnot_specified0.441260.528170.553321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5421221007737934146TACT221701Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5422260756737934234GA252839Benignnot_specified0.651260.659570.612021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5423559088740228078AT549617Benignnot_provided0.08489.0.205270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5424559092740314165GA549621Benignnot_provided0.284340.359790.316090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5425559093740314243AG549622Benignnot_provided0.28214.0.342250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5426559095740899967GC549624Benignnot_provided0.29979..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5427360161742000924CT311248BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph.....0.31130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5428360162742001171GA302940BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph.....0.266170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5429360209742003500GA306272BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph.....0.451680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5430255433742005678GA252855BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph...0.256350.45580.421530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5431681351742007071CT662963Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5432255420742064852CG252868BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph...0.967780.973460.963461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5433683174742079356CA662928Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5434683173742084728AG662965Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5435255446742088222TC252880BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph...0.661850.563030.603630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5436683170742188330TC662420Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5437360286744183975TGT306342BenignMaturity_onset_diabetes_mellitus_in_young|Perm.....0.411140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5438129147744185088GA134593BenignMaturity_onset_diabetes_mellitus_in_young|Perm...0.33490.368060.413140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5439673534744189321AG662425Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5440676858744190468TG662432Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5441683651744198944GGC662969Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5442403258744579180GC389750Benignnot_specified0.22290.247750.24720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5443261965745077978GA252887BenignCerebral_cavernous_malformations_2|not_specified0.065050.062870.032950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5444712069747971659TC730500Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5445691984750466304AG679730associationLeukemia,_acute_lymphoblastic_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5446694328750470604TG682220associationLeukemia,_acute_lymphoblastic_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5447360432750544314CT311345BenignDeficiency_of_aromatic-L-amino-acid_decarboxyl...0.209520.20890.198280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5448360449755086755GT303193Likely_benignLung_cancer..0.226440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5449360450755086780AC311361Likely_benignLung_cancer..0.929711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5450134021755229255GA137760Benign/Likely_benignLung_cancer|not_specified0.202680.286960.292130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5451259677755238874TA252901Benign/Likely_benignLung_cancer|not_specified0.32247.0.390380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
545245271755249063GA54438Benign/Likely_benignLung_cancer|not_specified0.542440.522780.432710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5453360476755273591GGA311489Likely_benignLung_cancer...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5454360482755274084TC306517Likely_benignLung_cancer..0.18690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
545592588765425894AG98496BenignMucopolysaccharidosis_type_VII|not_specified|n...0.490850.579630.580671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5456528232765432567TC522777Benignnot_provided..0.55991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
545792583765439879GC98491Benignnot_specified|not_provided0.488540.572210.56431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
545892591765444359TTGA98499Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5459680525765541307CG662958Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5460676097765551931TC662962Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5461675236765552614TC662438Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5462129370766098384GA134816Benign/Likely_benignSeizures|Progressive_myoclonic_epilepsy|not_sp...0.083040.102280.078270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5463262690766103435CCAGGA252906Benignnot_specified|not_provided0.107370.12880.12540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5464360600766105163CG306626BenignProgressive_myoclonic_epilepsy..0.62380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5465360601766105198CA303285BenignProgressive_myoclonic_epilepsy..0.62360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5466360619766106875AG303299BenignProgressive_myoclonic_epilepsy..0.62340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5467360627766107971CG311548Likely_benignProgressive_myoclonic_epilepsy..0.112820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
546821544766453460GA34396BenignShwachman-Diamond_syndrome_1|not_specified0.039370.038260.018170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5469675424773457255GA663006Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5470177898773474825GC176596BenignSupravalvar_aortic_stenosis|Cutis_laxa,_autoso...0.072510.071190.040140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5471683509773475775GA662978Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5472683865773480805GA663031Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5473360671773483531CCA306729BenignSupravalvar_aortic_stenosis|Cutis_laxa,_autoso.....0.290140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5474138789775614082CG142492BenignAntley-Bixler_syndrome_with_genital_anomalies_...0.852710.909090.81191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5475138790775614953TC142493BenignAntley-Bixler_syndrome_with_genital_anomalies_...0.8729.0.835261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5476256840775615006CT252929Benign/Likely_benignAntley-Bixler_syndrome_with_genital_anomalies_...0.236740.36390.286141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5477360731775616105GA303417Likely_benignAntley-Bixler_syndrome_with_genital_anomalies_.....0.268771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5478667830775677504CT655803Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5479129565777756580TC135011Benignnot_specified|not_provided0.883980.824810.786540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5480129564777756724CT135010Benignnot_specified|not_provided0.883980.82440.786340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5481129557778119109CT135003Benignnot_specified|not_provided0.345460.29420.323080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5482360740780231504GC306836Likely_benignPlatelet_glycoprotein_IV_deficiency..0.633390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5483487077780242920AG480401....0.346850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5484360748780275455AC311770Likely_benignPlatelet_glycoprotein_IV_deficiency..0.391970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5485360754780290369AG311791Likely_benignPlatelet_glycoprotein_IV_deficiency0.920340.964940.918331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
548643607781346685TC52776Benign/Likely_benignDeafness,_autosomal_recessive_39|not_specified...0.75304.0.798321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5487674767781598988GA662981Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5488674594781600197AG663052Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5489674593781600267TG663057Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5490674592781601231CG663065Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5491678451781604102AAGTATTAG662984Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5492416574781634822GAG396450Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5493668817781641188TC663067Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5494516741781641570GGAAA501832Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5495683280781667117AC663072Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5496683279781667804AG662988Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5497674634781693768TC663083Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5498668894781964857GT663009Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5499668892781978624AG663013Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5500260254783029438CT252945Benignnot_specified|not_provided0.338080.422340.339461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5501260257783034754TA252946Benignnot_specified0.459940.606340.555111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5502260255783037751CA252948Benignnot_specified|not_provided0.461630.60780.556311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5503194754783590852TC191917Benignnot_specified0.583580.61320.612020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5504256164787032613AG252949Benignnot_specified0.92342.0.879991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5505256161787053206GA252952Benignnot_specified0.925960.899010.87361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5506256160787056176TC252953BenignProgressive_familial_intrahepatic_cholestasis|...0.168540.105650.170330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5507198082787082292GA195243BenignProgressive_familial_intrahepatic_cholestasis|...0.404120.476480.347840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5508225939787138645AG227763drug_responseMDR1_POLYMORPHISM|fentanyl_response_-_Dosage,_...0.576660.503440.604830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5509166622787160618AC176988drug_responseInflammatory_bowel_disease_13|not_specified|on...0.67807.0.617011|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5510194187787179601AG191350Benignnot_specified|not_provided0.64240.541910.583870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5511683171791570129CT663016Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5512360809791570290GC311831Likely_benignLong_QT_syndrome|Romano-Ward_syndrome..0.628590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5513672176791570615CA662996Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5514682737791622676GA663113Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5515671862791629984TG663021Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5516671863791630001GC662508Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5517136347791630620GT140050Benign/Likely_benignLong_QT_syndrome|Colorectal_cancer|Long_QT_syn...0.440470.38290.37220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5518136349791632306CT140052Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.906350.892390.93591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5519136350791641928AG140053Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.44180.383780.37380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5520671864791643402GT663007Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5521682744791645152GC662510Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5522671865791645265AG662514Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5523671629791645893TC663025Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5524671866791646198CT663027Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5525190508791652178AAAAC188441Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|not_spec...0.479070.398920.424720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5526671867791659150CG663018Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5527671868791661111GC663024Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5528671869791667692TG662517Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5529682746791668365GA662525Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5530671870791669808GA663128Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5531671871791671853CA663033Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5532682749791672403GA663037Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5533136331791674302GA140034BenignLong_QT_syndrome_11|not_specified0.483160.399280.428510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5534682750791674807TC663032Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5535677984791681789GGA662526Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5536671872791690457AG663040Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5537136333791691601CT140036Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.427730.379460.359820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5538671873791691946GT662537Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5539682752791699779GA663131Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5540682753791699907AC662538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5541677811791699980CT663134Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5542136335791707197CT140038Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.426970.407650.362420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5543671874791708219TC662548Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5544671885791711791AG663055Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5545136340791712698AG140043Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.356070.359340.295930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5546136341791713972CT140044Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.440960.383170.37380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5547136342791714911CT140045Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.997390.99620.99881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5548136343791715662CT140046Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.355680.358880.295730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5549669435791725694GC663035Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5550136344791726927AC140047Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.446260.384590.37740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5551671886791727385GA662564Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5552677812791735299AG663153Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5553671003791736464TG663043Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5554671887791736794TA663069Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5555671888791736874AG663070Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5556671889791736921CT663049Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5557682754791737057TC663050Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5558677167791743150AG655811Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5559360872791829671AAT303560BenignAngiokeratoma_corporis_diffusum_with_arteriove......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5560360922792129161CAC303594Conflicting_interpretations_of_pathogenicityPeroxisome_biogenesis_disorder_1A_(Zellweger)|......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
556193105792131289GT99012BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.931720.921820.949881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
556293112792147584CT99019BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.864680.879260.893971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
556317636793055753AG32675risk_factorBone_mineral_density_quantitative_trait_locus_15.0.380030.543530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5564683354794023646CA663154Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5565683355794035892CT663053Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5566254957794038934CT252979BenignEhlers-Danlos_syndrome,_procollagen_proteinase...0.809930.781550.828081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5567254958794039032CT252980BenignEhlers-Danlos_syndrome,_procollagen_proteinase...0.804090.774220.824281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5568674811794039900CT663158Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5569674812794040133TA663163Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5570254952794041937AC252981BenignEhlers-Danlos_syndrome,_procollagen_proteinase...0.36106.0.327281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5571254953794043239CG252982BenignEhlers-Danlos_syndrome,_procollagen_proteinase...0.79433.0.821691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5572683330794044222TC663176Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5573674831794052495AG662589Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5574674833794056244CG663080Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5575360976794059899CT312030BenignEhlers-Danlos_syndrome,_procollagen_proteinase.....0.221450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5576360983794060359AAGTTGTCC303655BenignEhlers-Danlos_syndrome,_procollagen_proteinase.....0.787940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5577487363794227276TG480429BenignMyoclonic_dystonia.0.69540.762381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
557813735794937446TC28774association,_risk_factorEnzyme_activity_finding|Coronary_artery_diseas....0.377050.542930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
557913736794946084AT28775association,_risk_factorEnzyme_activity_finding|Coronary_artery_diseas....0.291270.182710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
558013737794953895GA28776otherEnzyme_activity_finding..0.349041/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5581402811795668664CA389826Benignnot_specified0.22490.199910.211860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5582402812795709666CA389761Benignnot_specified0.462480.489750.43651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5583683863795820219TC663105Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5584260371795864108TC252989BenignCitrin_deficiency|Citrullinemia_type_I|not_spe...0.688990.617920.609821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5585667997797488569AT655822BenignAsparagine_synthetase_deficiency|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
558616916799382096CT31955drug_responseCYP3A4_PROMOTER_POLYMORPHISM|Cyp3a4-v|tacrolim.....0.769171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5587678005799701176GA662419Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5588678154799703505AG662448Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5589213697100225031GA34221BenignHereditary_hemochromatosis|Hemochromatosis_typ...0.163060.247510.129991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5590166027100317298CA31641risk_factorMicrovascular_complications_of_diabetes_2..0.674720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55914036157100371473CT389693Benignnot_specified.0.514570.237021|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55924036167100371474GA389793Benignnot_specified.0.472430.445490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55937693347100385561GGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATG699700Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55948110007100410597GA799458Benignnot_specified...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55958116467100411278TC799459Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55968116437100416250AG799464Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55973583167100781084TC304468BenignPlasminogen_activator_inhibitor_type_1_deficiency..0.430910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55983583197100781445TG309196BenignPlasminogen_activator_inhibitor_type_1_deficiency..0.430510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55993583257100781711TTCGCGCCCCC309203BenignPlasminogen_activator_inhibitor_type_1_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56003583387100782460GA309223BenignPlasminogen_activator_inhibitor_type_1_deficiency..0.341650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5601483397103053435AG57501Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.398740.3150.442690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56023583697103112862CT309106BenignLissencephaly,_Recessive..0.99841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56033583737103113192CT301324Likely_benignLissencephaly,_Recessive..0.023560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5604952097103124207TC101109BenignLissencephaly_2|not_specified|Lissencephaly,_R...0.174770.138920.231630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56056691417103129951AG662447Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56066689667103130805AG662059Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56076691407103131495AC662443Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56086709287103132208GA662072Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56096691397103132671AT662461Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5610952347103138517CG101134BenignLissencephaly_2|not_specified|Lissencephaly,_R...0.990930.986960.995611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5611952317103151436TC101131Benign/Likely_benignLissencephaly_2|not_specified|Lissencephaly,_R...0.047590.049810.078080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56126689657103151772AG662462Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5613952307103155705AG101130BenignLissencephaly_2|not_specified|Lissencephaly,_R...0.495460.472190.648360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56146691377103162370CT662451Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56156691367103162847TC662477Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56166840747103163552AC662456Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56176840737103164238TC662080Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56182596127103175965CT252553Benignnot_specified|not_provided0.75688.0.710261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56196691357103176052CT662466Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56206691347103191428CT662464Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56216840717103193651TC662468Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56226691327103201735TC662484Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56232596087103207234TC252557Benignnot_specified0.467320.41370.473640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56246691297103207411GGAAGGAAA662488Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56256691287103214940TC662092Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56266691197103229849TC662498Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56276840677103230541AC662097Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56286840647103243492TC662103Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56296689487103270088TA662499Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56306709687103275803TC662505Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56316691127103294305TC662490Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56326707227103302279CG662496Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5633952247103389954AG101124BenignLissencephaly_2|not_specified|Lissencephaly,_R...0.510760.496020.465460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56346689467103473658CT662511Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56354163787105188996GA395528Benignnot_specified0.025220.027370.011180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56363584377106842683AATCTT309207Likely_benignCongenital_disorder_of_glycosylation...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56373584427106843133GC309212Likely_benignCongenital_disorder_of_glycosylation..0.130190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56383584457106843416ATA301392Likely_benignCongenital_disorder_of_glycosylation...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56393584587106897237AC304590Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.158930.19830.129790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56403800607107002573TC369409Benignnot_specified0.162460.222860.135580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5641953747107002806AG101273BenignCongenital_disorder_of_glycosylation|not_speci...0.65470.550770.648361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56425163977107052927AACA502153Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56433584737107188719GT309240Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.265650.265130.24880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56443799587107198405AT369124Benignnot_specified0.413350.423040.379991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56453585157107356759GA304660Likely_benignPendred_syndrome|Nonsyndromic_Hearing_Loss,_Re.....0.241410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56463585387107414419AG309313BenignCongenital_secretory_diarrhea,_chloride_type0.991620.993570.9981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56473585457107423254CT309333BenignCongenital_secretory_diarrhea,_chloride_type0.142320.158070.150960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56486837357107544208CG662116Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56491370947107545799TC140797Benign/Likely_benignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv...0.648520.618180.716050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56501371027107559722AT140805BenignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv...0.29758.0.275760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56513585757107559911GA309370BenignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.710660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56523585797107560191CT301488BenignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.714460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56533585837107560651GT301489Likely_benignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.272360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56543585847107560682TC304740BenignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.714660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56553585887107561155TC301500BenignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.715260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56563585897107561392GA301501Likely_benignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.272170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56573585927107561494TTTTAT304744Uncertain_significanceMaple_syrup_urine_disease|Leigh_syndrome|Pyruv......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56586829937107565007AC662521Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56596812267107565138CT662524Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56606829827107566430AG662528Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56616829817107566488GT662118Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56623808417107569517AG368852Benignnot_specified0.453480.405560.433510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56636812447107575557GA662529Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56646829797107580839AG662540Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56656829787107581035AG662122Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56666812257107581115CG662497Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56676829777107591914AG662124Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56683808377107593989TC369153Benignnot_specified0.652310.644690.695491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56696812337107594549GA662126Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56706812237107600558CT662128Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56716829767107601523TC662500Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56723808387107603431AC370717Benignnot_specified0.30586.0.285740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56736829727107604818TG662546Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56746812227107605412CT662531Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56756829687107613379GA662544Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56766829757107615274CT662551Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56773808397107615506CT369160Benignnot_specified0.094880.101270.097240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56786829747107616011CG662556Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56796829737107616049CA662135Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56806829717107616068TC662519Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56816829707107616078GA662558Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56826829677107618420AG662561Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56836812437107626186CT662563Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56843808367107626770GA368881Benignnot_specified0.107260.117850.091250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56856829627107626994AG662520Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56866829617107635105GC662565Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56876829607107643521TG662569Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
568887067113518434CA23745risk_factorInsulin_resistance,_susceptibility_to.0.219060.308710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56893586537114332234AT304847BenignSpeech-language_disorder_1.0.014220.009980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56906724787116165360AC662532Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56916733507116165463TC662606Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56923586817116312582GT304869Uncertain_significanceRenal_cell_carcinoma,_papillary,_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56938023477116381121GGT790675BenignRenal_cell_carcinoma,_papillary,_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56948023517116409675CTC790679BenignRenal_cell_carcinoma,_papillary,_1...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56951940247116409690TCT191187Conflicting_interpretations_of_pathogenicityRenal_cell_carcinoma,_papillary,_1|not_specifi......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56966778667116409950TC662576Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5697510297117119337TG65697Likely_benignCystic_fibrosis|not_specified..0.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56983587607120428607GA304926BenignFamilial_exudative_vitreoretinopathy0.771760.804830.846251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56992602537120428799CA252574BenignFamilial_exudative_vitreoretinopathy|not_speci...0.773640.803220.851441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57006770207124465097AT662585Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57016770197124465509AC662622Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57026770177124469267AT662155Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57036770167124469587GA662596Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57046770157124480869TC662550Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57055165867124481245GA501786Benignnot_specified0.388860.411380.418930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57066770147124481403TA662599Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57076770137124481420TA662600Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57085165857124486980TC501547Benignnot_specified0.710440.695020.721850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57096770127124492038TC662629Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57104750947124499002ATCA457119Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57116770117124503196CT662634Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57126788697124538615CT662570Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57136788687124568710AG662611Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57143587787127250597GA304937BenignMaturity_onset_diabetes_mellitus_in_young..0.669131|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57153587917127250907TC301741BenignMaturity_onset_diabetes_mellitus_in_young.0.763230.669331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57161298787127251188TG135324BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.768920.757810.670531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57171298767127253898GA135322Benign/Likely_benignMaturity_onset_diabetes_mellitus_in_young|not_...0.052130.045130.017770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57183695767127255795CG353805BenignMaturity_onset_diabetes_mellitus_in_young..0.602441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57197783627127892146AG699807Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57203588397127896536AG301816BenignLeptin_deficiency_or_dysfunction|Monogenic_Non.....0.947680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57213588427127897021GA304954Likely_benignLeptin_deficiency_or_dysfunction|Monogenic_Non.....0.118610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57223588457127897069CA309786Likely_benignLeptin_deficiency_or_dysfunction|Monogenic_Non.....0.460060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57237729007127983761CT699809Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57243588767128038555CG309824Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos...0.138860.160940.130190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57257682007128140982TC699817Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57266798717128470376CT662641Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57276801977128470462CA662171Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57286801987128470482GA662173Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57291290817128470838CT134527Benignnot_specified|not_provided0.093740.094460.110020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57306802007128481857AT662181Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57316802017128485850TG662620Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57322266417128487866TC229552Benignnot_specified0.991250.997310.990621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
573333967128578301GT18435Pathogenic,_risk_factorRheumatoid_arthritis|Systemic_lupus_erythemato.....0.413540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57347682017128587351CACTCTGCAGCCGCCCACTCTGCGGCCGCCTC699841Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
573533977128589427GA18436risk_factorSystemic_lupus_erythematosus_10..0.535940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57366707967128597587TG662623Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57372602657128607384GA252607Benignnot_specified0.510610.47790.476840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57386707837128619415TA662691Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57396702397128630227CT662651Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57406707777128630313TC662655Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57416707827128633722TC662203Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57426689767128640188AG662650Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57436707757128640293CT662653Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57446707737128640334AT662206Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57452602687128641226GC252612Benignnot_specified0.37160.409720.341850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57466707727128644857CT662657Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57476707787128645292AC662208Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57486689747128645513TC662692Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57496707767128654840TA662654Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57506707707128655434AAT662662Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57516707687128656831CT662694Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57526707537128657277TC662661Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57536707527128694976CT655780Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57546798667128695279AG662664Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57554034627128846328GC389787Benignnot_specified0.789640.797490.756191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57562584747130021488GC252615Benignnot_specified0.55068.0.582271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57573588837130033630CT301846BenignJoubert_syndrome.0.536830.555311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57583588967130034437CG309694BenignJoubert_syndrome.0.339460.349441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57593588997130034695TC309860Likely_benignJoubert_syndrome.0.206220.234031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57603589057130035205GGA301897BenignJoubert_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57612610537130080812TG252622BenignJoubert_syndrome|not_specified0.371370.449280.478630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57627037887136701308TA692161Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57632598917137801413AC252626Benignnot_specified|Congenital_Bile_Acid_Synthesis_D...0.82239..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57643589567137801444CT305060BenignCongenital_Bile_Acid_Synthesis_Defect0.817390.778130.777961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57653589627137801770AC309898Likely_benignCongenital_Bile_Acid_Synthesis_Defect..0.181710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57663589657137801915GA305064BenignCongenital_Bile_Acid_Synthesis_Defect..0.778951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57677406287138333819CT750441Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57683589997138391130CT309792BenignDistal_Renal_Tubular_Acidosis,_Recessive..0.207071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57693590007138391207GA309812Likely_benignDistal_Renal_Tubular_Acidosis,_Recessive..0.051321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57702613437138417718AG252628Benignnot_specified|Distal_Renal_Tubular_Acidosis,_R...0.633090.719720.677520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57712613427138418910GA252629Benignnot_specified|Distal_Renal_Tubular_Acidosis,_R...0.683220.726710.716650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57722613457138455988AG252632Benignnot_specified|Distal_Renal_Tubular_Acidosis,_R...0.73220.703980.679510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57733590477140434597GGA302001Uncertain_significanceNoonan_syndrome|Noonan_syndrome_with_multiple_......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57747682087141796131GA699893Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57752588037142460865TC252642Benign/Likely_benignnot_specified.0.504070.393770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57767682107142583330AC699898Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57776791497143013171TG662683Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57783590947143016928CT302026BenignMyotonia_congenita|not_specified0.40797.0.322880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57798023787143017807GT790706BenignCongenital_myotonia,_autosomal_recessive_form...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57806791507143017960CG662687Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57816791517143020625TC662722Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57826799087143020649GA662215Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57836799097143028536GA662695Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57846799107143029371GT662702Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57852890077143029983TC273244Benignnot_specified0.137480.146410.092450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57866799127143030146CA662707Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57873591117143036337CT305233BenignMyotonia_congenita|Congenital_myotonia,_autoso...0.47240.41080.414340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57886801427143039780GA662718Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57896680957143042321CA662742Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57906801437143042552GA662724Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57913591187143042837CT310073BenignMyotonia_congenita0.399010.539690.478241|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57923591197143043240CT302046BenignMyotonia_congenita|not_specified0.423270.397420.369410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57937184757143094390GA730472Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57943591357144094613GT302073Likely_benignPremature_ovarian_failure.0.215410.105630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57952865257144095600AG270762BenignPremature_ovarian_failure|not_specified.0.68070.696290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57961385357144096068CT142238BenignPremature_ovarian_failure|not_specified0.177610.263610.162140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57973591447144096839AG305256BenignPremature_ovarian_failure0.599570.67570.706270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57983591527144098992GA310019BenignPremature_ovarian_failure0.60050.631180.706270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57991385367144107279AG142239Benign/Likely_benignPremature_ovarian_failure|not_specified0.126880.228570.105030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58006737287144150996TG662740Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58013591717145813854GA305281BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like.....0.511981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
580254927146489606AT20531risk_factorAutism_15..0.505391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58036725457146805118GC662227Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58046687857146817813CA662758Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58056799297146826061AG662775Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58066767487146997498AAAAAC662778Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58076687877147258966AC662803Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58086799307147258991AG662730Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58096799327147259105GA662780Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58106706327147259374AG662804Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58116706337147259438AG662784Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58126799277147259551CT662735Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
581354917147574390AG20530risk_factorAutism_15..0.588661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58146681017147914885TG662761Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5815955677147926888AC101465Benignnot_specified0.41650.375470.360221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58166799367147964377AG662808Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58176681027148080463CT662269Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58186799317148080499TC662809Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58196799337148080597CT662764Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58206706507148080647TG662814Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5821955737148106490GA101471BenignHistory_of_neurodevelopmental_disorder|Pitt-Ho...0.585040.540660.549121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58226709187148106651GA662765Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58236681037148112234TC662770Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58246708517148112448AT662822Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58253591997148112872CCA305292BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like......1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58263592027148112987CA310071BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like.....0.660740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58273592087148113623ATAGTTA310185BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58283592417148115638GAAG305319BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58293592617148116692AAT310143BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58303592717148117505GC302173BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like.....0.793530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58312594007148504716AGA252646BenignWeaver_syndrome|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58326801307148504854AAGACTT662829Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58336801287148506064AG662836Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58346801267148508481AG662843Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58356704727148508833AG662278Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58366709317148543525AG662779Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58372109667148543693TAT207472BenignWeaver_syndrome|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58386817017148543753CT662853Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58396719507150645682GA662287Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58402002307150648198AG197235Benign/Likely_benignArrhythmia|Long_QT_syndrome|not_specified|Card...0.690450.665840.772171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58412002287150648789TC197263Benign/Likely_benignArrhythmia|Long_QT_syndrome|not_specified|Card...0.489390.478590.608431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5842364287150649531GA45091Benign/Likely_benignArrhythmia|Long_QT_syndrome|Cardiac_arrhythmia...0.226360.293450.341651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58432556147150649603GA252648Benign/Likely_benignArrhythmia|Long_QT_syndrome|not_specified|Card...0.2302.0.342651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58446719497150652286CG662883Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58456780327150654820TC662292Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58466718957150672162TTC662298Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58475176607150690079CT508751protectiveMetabolic_syndrome,_susceptibility_to..0.765581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58484032487150695726TC389810Benignnot_specified0.755390.770130.817690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5849140157150696111TG29054BenignIschemic_heart_disease,_susceptibility_to|Isch....0.753020.823681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58504032507150708089AG389797Benignnot_specified0.839230.844080.888381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58514032517150709571GT389815Benignnot_specified0.288450.37790.361820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58526676237150878260CG655788Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58534023987150884266CCAG390498Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58543593207151253226CT302196Likely_benignWolff-Parkinson-White_syndrome|Glycogen_storag.....0.553910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58553593227151253246GGA302204Uncertain_significanceWolff-Parkinson-White_syndrome|Glycogen_storag......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58563593357151253765CA305426Likely_benignWolff-Parkinson-White_syndrome|Glycogen_storag.....0.549920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58573593427151254175TC302216Likely_benignWolff-Parkinson-White_syndrome|Glycogen_storag.....0.554310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58586836297151254576TC662787Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58592606947151267353GA252649Benignnot_specified0.08310.143040.144170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58606745397151269916CT662896Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58612606977151292395AAT252652Likely_benignnot_specified0.70690.764670.804710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58626837127151483896CG662322Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58632606927151573731GA252655Benign/Likely_benignWolff-Parkinson-White_syndrome|Glycogen_storag...0.129270.174310.18891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58642260117154072020TC227765drug_responseantipsychotics_response_-_Toxicity/ADR..0.577281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5865166317155253993GA31670Uncertain_significanceAutism_10..0.757391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5866166327155254145TC31671Uncertain_significanceAutism_10..0.758991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58676675977155598666TC662812Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58686696617155598671CA662863Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58696750037155598879AC662864Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58702554957155599300CT252656Benignnot_specified0.452080.582290.475040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58713594047156475447GA310280BenignTriphalangeal_thumb_polysyndactyly_syndrome..0.196691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58723594107156476389AG310399BenignTriphalangeal_thumb_polysyndactyly_syndrome..0.198481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58733594187156476683TA310406BenignTriphalangeal_thumb_polysyndactyly_syndrome..0.092250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58746690097156584063GC662907Benign/Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58757682207156584567GC699961Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58766793057157202282TA662349Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58776681187157208458CT662357Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58786792967157208617CT662888Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58793594727157209491TC302331BenignLimb-Girdle_Muscular_Dystrophy,_Dominant|Myofi.....0.981631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58803594747157209551CT310367BenignLimb-Girdle_Muscular_Dystrophy,_Dominant|Myofi.....0.360820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58815162357158664253GA502043Benignnot_specified0.052080.057950.066690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58825162047158672476CG502324BenignShort-rib_thoracic_dysplasia_8_with_or_without...0.990960.991960.995811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58835162197158672619AG501998Benignnot_specified0.457030.441040.573681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58845162057158715219AG501695Benignnot_specified0.849230.841910.886180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58855162067158719084CT502000Benignnot_specified0.762740.793080.780550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58865162257158734813CT502053Benignnot_specified0.16724.0.112820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
588767991781728292TC662767Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
588851839081830928AG508830BenignSlowed_nerve_conduction_velocity,_autosomal_do...0.628410.665780.742410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
588961853681833801GC609686BenignCharcot-Marie-Tooth_disease|Slowed_nerve_condu...0.10810.159370.168330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589051839281900855AG508832BenignSlowed_nerve_conduction_velocity,_autosomal_do...0.930580.949060.949481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589136351586264130GC314971BenignPrimary_Microcephaly,_Recessive0.67266.0.538741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589215885486266774GA168641Likely_benignnot_specified0.32690.255360.372011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589367044586272185GT662866Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589467044686272477AG663359Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589567044786272481CG663364Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589668314886272532TA662867Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589768315086272543AC663368Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589815887986302154GT168657Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_1|not...0.118180.115330.070291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58999612686302418AG102020BenignPrimary_autosomal_recessive_microcephaly_1|not...0.992660.997980.994411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590068315186312880CT663363Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590115883486338306CA168676Benign/Likely_benignnot_specified|Primary_Microcephaly,_Recessive0.13297.0.146371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590268432386338689GA663369Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590315883786377433CT168680Likely_benignnot_specified0.243810.264810.149761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590415883886378763CT168681Likely_benignnot_specified0.365290.344910.30971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590515883986389889CA168682Likely_benignnot_specified0.42734.0.289741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5906361187810463944AC312241BenignOccult_macular_dystrophy..0.56051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5907361200810464307GA312140BenignOccult_macular_dystrophy..0.466250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5908361207810464616GA307279Likely_benignOccult_macular_dystrophy0.00330.001470.00040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5909361209810464755CT312150BenignOccult_macular_dystrophy0.376740.470240.472050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5910361212810464885TC312151BenignOccult_macular_dystrophy0.522710.609410.650960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5911361222810465097CT312285BenignOccult_macular_dystrophy0.446080.378150.31211|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5912361235810465748TC312170BenignOccult_macular_dystrophy0.521860.607070.649361/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5913361236810465771GT312296BenignOccult_macular_dystrophy0.924050.949410.919731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5914361242810465942TA307332BenignOccult_macular_dystrophy0.196180.250070.237420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5915361259810466482GA312214BenignOccult_macular_dystrophy0.449820.382570.31070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5916361276810467124GC312243BenignOccult_macular_dystrophy0.243910.294470.281750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5917361282810467207CA303830BenignOccult_macular_dystrophy0.951580.981960.94091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5918361309810468172GA312322BenignOccult_macular_dystrophy0.707050.730870.708071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5919361349810469233AG312440BenignOccult_macular_dystrophy0.477060.423520.31490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5920361367810469817GA307405BenignOccult_macular_dystrophy0.846210.844650.797321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5921361372810470068CT303896BenignOccult_macular_dystrophy0.448020.391230.294730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5922361437810512511GC307484BenignOccult_macular_dystrophy..0.489820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5923361468811351912CT312558BenignMaturity_onset_diabetes_mellitus_in_young..0.425720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5924361471811352056AG307514BenignMaturity_onset_diabetes_mellitus_in_young..0.823681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
592512319811405576GA27358Conflicting_interpretations_of_pathogenicityMaturity_onset_diabetes_mellitus_in_young|Matu...0.01530.011710.012380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5926128527811406593TC133976BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.509690.4830.416930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5927128529811414237TC133978BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.812470.831670.827681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5928361498811421709GC304030Likely_benignMaturity_onset_diabetes_mellitus_in_young..0.050120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5929361500811421793CT304039BenignMaturity_onset_diabetes_mellitus_in_young.0.493230.557111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
593012320811421955TG27359Likely_benignMaturity_onset_diabetes_mellitus_in_young|Matu....0.011470.003990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
593112321811430641CT27360Conflicting_interpretations_of_pathogenicityMaturity-onset_diabetes_of_the_young,_type_11..0.06450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5932433016811606312TC426523Conflicting_interpretations_of_pathogenicityCongenital_heart_disease..0.871611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5933139596811612698CA143221Conflicting_interpretations_of_pathogenicityCongenital_heart_disease|not_provided0.59396.0.734430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5934433015811615695AG426531Conflicting_interpretations_of_pathogenicityCongenital_heart_disease..0.270170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5935139593811616338AC143218Uncertain_significancenot_provided..0.361420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5936139594811616410CT143219Uncertain_significancenot_provided..0.227240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5937433026811617240AT426534Conflicting_interpretations_of_pathogenicityCongenital_heart_disease..0.399960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
593895430815508200TC101329Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.307170.337980.293131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5939362319815622454CT313481BenignCongenital_disorder_of_glycosylation..0.744211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5940362320815622519TC313572BenignCongenital_disorder_of_glycosylation..0.754591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5941362328815622858AG304690Likely_benignCongenital_disorder_of_glycosylation..0.213261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
594214357816012594GA29396Conflicting_interpretations_of_pathogenicityMalignant_tumor_of_prostate|Hereditary_cancer-.....0.005390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5943670833817137687GA662763Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5944362350817913970GA313506BenignFarber_disease..0.717250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5945362355817914305GC313616BenignFarber_disease..0.275560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5946362356817914314AG313621BenignFarber_disease..0.279950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5947362357817914331ACTTCA313622BenignFarber_disease...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5948362358817914348GA304724Likely_benignFarber_disease..0.079670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5949362359817914356GC304726BenignFarber_disease..0.274960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5950362364817914709CT308429Likely_benignFarber_disease..0.028350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5951362365817914799GA304732Likely_benignFarber_disease..0.106230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5952362367817914859AT304736Likely_benignFarber_disease..0.106030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5953362372817914919AT304751BenignFarber_disease..0.364220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5954678049817916224AC663331Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5955678048817916553CT663292Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5956259283817918934AG253089BenignFarber_disease|not_specified|not_provided0.86660.943090.850241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5957362381817924739AT304754Benign/Likely_benignFarber_disease|not_specified|not_provided0.034370.04220.022761/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5958259280817924849CT253092Benignnot_specified0.226370.421550.392971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5959678046817927061GT663336Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5960678045817927082TC662774Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5961678030817927184AG663339Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5962678029817927248AC663306Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5963558958817927280GT549640Benignnot_provided0.348590.413080.339060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5964197388817927294CT194549BenignFarber_disease|not_specified|not_provided0.420170.477810.419931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5965197389817927327TC194550BenignFarber_disease|not_specified|not_provided0.421630.479650.420531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5966678028817927516AG663312Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5967678027817927634TC663341Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5968678026817928626AG662793Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5969259279817928762TTATA253093Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5970259278817928811CT253094BenignFarber_disease|not_specified|not_provided0.424270.538550.420531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5971259277817928920TC253095Benignnot_specified|not_provided0.423790.524370.420331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5972678025817928999GA663351Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5973678024817930605AC663366Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5974678023817930727GA663319Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5975678022817930734CA662813Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5976402397817930772CT389782Benignnot_specified|not_provided0.423940.465070.413541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5977678021817930999AG662821Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5978672022817931091CT663322Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5979259275817933099GA253096Benign/Likely_benignFarber_disease|not_specified|not_provided0.107720.106380.110021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5980259276817933146CT253097Benignnot_specified0.10226.0.106231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5981362390817941668CT308432Uncertain_significanceFarber_disease..0.006991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5982558961817942332AG549643Benignnot_provided0.034060.042150.024760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
598317808818080001GA32847BenignNAT1*17_ALLELE|not_specified.0.02090.016970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5984375653818257795CT362499drug_responseethambutol,_isoniazid,_pyrazinamide,_and_rifam...0.357370.344890.397360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5985722818258103GA15761drug_responseSlow_acetylator_due_to_N-acetyltransferase_enz....0.277270.264980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
59861550819813529AG16589Conflicting_interpretations_of_pathogenicityHyperlipidemia,_familial_combined,_susceptibil....0.013360.005190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
59871559819819439AG16598associationHigh_density_lipoprotein_cholesterol_level_qua.....0.349440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
59881534819819724CG16573Likely_benignLIPOPROTEIN_LIPASE_POLYMORPHISM|Hyperlipoprote....0.09350.092450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5989362430819823648AT308459BenignHyperlipoproteinemia,_type_I..0.337460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5990362432819823674CT313618Likely_benignHyperlipoproteinemia,_type_I..0.091250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5991362440819824045CA308491Likely_benignHyperlipoproteinemia,_type_I..0.090260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
599240131819824492TC48634BenignHyperlipoproteinemia,_type_I|High_density_lipo.....0.334860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5993362448819824563TC308525Likely_benignHyperlipoproteinemia,_type_I..0.12760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5994362450819824626CCTT313721Likely_benignHyperlipoproteinemia,_type_I...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5995362452819824667CT313723BenignHyperlipoproteinemia,_type_I..0.333070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5996362455821971961TTA313665BenignAlopecia_universalis|Atrichia_with_papular_les......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5997362466821972973GT304810BenignAlopecia_universalis|Atrichia_with_papular_les.....0.356630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5998362521821984650AG304851BenignAlopecia_universalis|Atrichia_with_papular_les...0.65180.612310.579270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5999362525821984945CT313732BenignAlopecia_universalis|Atrichia_with_papular_les...0.280680.320490.296330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6000362542821988515AC308587BenignAlopecia_universalis|Atrichia_with_papular_les.....0.608230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6001362569822021933CT313869Benign/Likely_benignIdiopathic_fibrosing_alveolitis,_chronic_form|....0.205980.104430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6002362572822022655CGGAGC313871Uncertain_significanceOsteogenesis_Imperfecta,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6003362573822022749AG313878BenignIdiopathic_fibrosing_alveolitis,_chronic_form|.....0.741410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6004680492822038144GC663373Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6005674968822053123TC663375Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6006362592822059363GA313894Benign/Likely_benignnot_specified|Osteogenesis_Imperfecta,_Recessive0.076750.050250.050320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6007675091822059520AG663378Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6008680516822059606GA663327Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6009680493822065179AG663330Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6010674720822066855CT663340Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6011675150822069018CT663381Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6012362607822069386TC308665Likely_benignOsteogenesis_Imperfecta,_Recessive..0.133990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6013768230822262228AGCTGCTA700522Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6014720868822428590GA723003Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6015162169823082971GT171882not_providednot_provided..0.400760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6016362624824809067CT304973BenignCharcot-Marie-Tooth_disease,_type_I..0.719650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6017362632824809636CG304991BenignCharcot-Marie-Tooth_disease,_type_I..0.542730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6018362641824810088TA305005BenignCharcot-Marie-Tooth_disease,_type_I..0.720850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6019694999824811064AGA683010Uncertain_significanceCharcot-Marie-Tooth_disease...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6020670555824814205GT662832Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6021667514824814403TC663383Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6022362657825281329AG308710Uncertain_significanceIsolated_GnRH_Deficiency..0.019970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6023362664827317337AG308736BenignNocturnal_frontal_lobe_epilepsy..0.805711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6024362665827317445GT308738BenignNocturnal_frontal_lobe_epilepsy..0.405150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6025362673827317987AG313911BenignNocturnal_frontal_lobe_epilepsy..0.365420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6026362682827318391CT313924BenignNocturnal_frontal_lobe_epilepsy..0.361420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6027362683827318425CA313926BenignNocturnal_frontal_lobe_epilepsy..0.359030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6028362685827318544AG313972BenignNocturnal_frontal_lobe_epilepsy..0.786741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6029362686827318635CG313930BenignNocturnal_frontal_lobe_epilepsy..0.781951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6030670757827321597GC662838Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6031668090827327841CG663394Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6032679135827328354GC663396Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6033362716827336767AT314020BenignNocturnal_frontal_lobe_epilepsy..0.106630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
603416603827373865GA31642risk_factorFamilial_hypercholesterolemia_1.0.115320.129590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6035516218827632143CT502718Benignnot_specified..0.466650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6036257053827641609GA253100Benignnot_specified0.976010.993320.977841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6037439766830554006GA433599Benignnot_specified0.405120.449410.423920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6038130763830924557CT136209BenignWerner_syndrome|not_specified|not_provided0.65370.703180.68730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6039130757830938704GA136203Benign/Likely_benignWerner_syndrome|not_specified|not_provided0.057510.075230.046920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6040256707830958353CTC253104Benign/Likely_benignWerner_syndrome|not_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6041130754830999122CT136200BenignWerner_syndrome|not_specified|not_provided0.386590.470430.3751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6042130761831024638CT136207Benign/Likely_benignWerner_syndrome|not_specified|not_provided0.28210.298910.273560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6043130762831024654TC136208Benign/Likely_benignWerner_syndrome|not_specified|not_provided0.227360.241640.192691|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6044732415836780142GA736637Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6045679568837606963CT663338Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6046362826838000267TC314123BenignCongenital_adrenal_hyperplasia..0.550520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6047448532838003787TC441233Benignnot_specified0.976470.979580.965661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6048362920838326161GA314238BenignCraniosynostosis|Hypogonadism_with_anosmia|Pfe.....0.956871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6049259175838884342GGTTCT253109Benignnot_specified|Cone-Rod_Dystrophy,_Recessive...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6050362954841511157AC309065Likely_benignSpherocytosis,_Dominant..0.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6051261317841519462AG253111Benign/Likely_benignSpherocytosis_type_1|not_specified|Spherocytos...0.749890.780470.786340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6052261316841525914CT253112Benign/Likely_benignSpherocytosis_type_1|not_specified|Spherocytos...0.23120.213390.194690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6053261315841529856AG253113BenignSpherocytosis_type_1|not_specified0.97232.0.977641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6054261301841553928CG253125Benign/Likely_benignSpherocytosis_type_1|not_specified|Spherocytos...0.36285.0.407150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6055261319841583294CT253139Benign/Likely_benignnot_specified|Spherocytosis,_Dominant0.102080.13820.105030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6056587815841794934CT579425BenignHistory_of_neurodevelopmental_disorder0.300550.205210.209470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6057402969842175303AT389785Benignnot_specified0.753420.853210.695291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6058363099842397004CT305384BenignIdiopathic_basal_ganglia_calcification_1..0.693690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6059363113842692419TC309195Likely_benignDystonia..0.018570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6060684160843024625TG663400Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6061684171843046395GA663401Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6062684173843047156GC663358Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
606396501843047593GA102395BenignMucopolysaccharidosis,_MPS-III-C|not_specified...0.248970.30720.225240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
606496503843054553TC102397BenignSanfilippo_syndrome|Mucopolysaccharidosis,_MPS...0.990660.99740.991611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6065363174843056513TC305420BenignSanfilippo_syndrome..0.821891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6066379395848846519TC371924Benignnot_specified0.962270.959850.983631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6067363238848885436TA314652BenignNatural_killer_cell_and_glucocorticoid_deficie...0.872980.866860.914140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6068403354852284654CCAA,CA390587Benignnot_specified...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
6069403355852321238GA389834Benignnot_specified0.010890.011280.005791/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6070403356852321243TC389843Benignnot_specified0.80876.0.831871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6071403357852366200GA389863Benignnot_specified0.825390.874480.746011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
60725969855539395AT21008Benign/Likely_benignHypertriglyceridemia,_susceptibility_to|not_sp....0.347510.251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
607395357855542540GA101256Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Dominant0.31475.0.215661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6074363327857870847TC309408BenignChondrodysplasia..0.882391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6075363378857874701CT309475Uncertain_significanceChondrodysplasia..0.003790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6076128540861178574TC133989BenignHistory_of_neurodevelopmental_disorder|not_spe...0.528220.427930.5010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6077158324861655690GA168596Benignnot_specified0.762480.811910.827081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
60782030861690321AG17069Uncertain_significanceScoliosis,_idiopathic_3..0.860621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6079676809861693412CA663362Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6080158325861707725GA168598Benignnot_specified0.822610.831590.896971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6081260894861713126AATGGACT253153Likely_benignnot_specified0.746290.795360.828671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6082676842861713231CA663354Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6083673326861729273TG662852Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6084158326861732521AG168600Benignnot_specified0.77990.825880.852841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6085676810861748415GA662859Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6086673327861750002AG662860Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6087158327861750860AG168612Benignnot_specified0.766280.813720.839061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6088667608861758254GA663355Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6089676811861764076AG662865Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6090676812861764389GT663411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6091667609861767390GC663419Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6092676813861773285CT663422Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6093363501861779681AC305684BenignHypogonadism_with_anosmia|CHARGE_association..0.50041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6094363502861779936TG315016BenignHypogonadism_with_anosmia|CHARGE_association..0.495811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6095363511861780220TC305698BenignHypogonadism_with_anosmia|CHARGE_association..0.737621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6096363513861780289CT309718BenignHypogonadism_with_anosmia|CHARGE_association..0.496211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
609792872863978658TAT98779BenignAtaxia_with_vitamin_E_deficiency|not_specified......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6098379640867976750CG371950Benignnot_specified0.029520.029290.014180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6099363596868334411TC309773Likely_benignFamilial_temporal_lobe_epilepsy_2..0.013380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6100128847868396915TC134295Benign/Likely_benignFamilial_temporal_lobe_epilepsy_2|not_specifie...0.12410.112350.079070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6101128846868421768GC134294Benign/Likely_benignFamilial_temporal_lobe_epilepsy_2|not_specified0.059710.094390.089060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6102128845868536470AG134293Benign/Likely_benignFamilial_temporal_lobe_epilepsy_2|not_specifie...0.264040.235960.232230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6103369613868658633CT353842Likely_benignFamilial_temporal_lobe_epilepsy_2..0.604630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6104225954869389217CG227767drug_responseirinotecan_response_-_Toxicity/ADR..0.683510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6105363624872109994CT315067BenignOtofaciocervical_syndrome_1|Branchiootorenal_S.....0.987821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6106363687874888494CT315216BenignMitochondrial_Complex_V_(ATP_Synthase)_Deficie...0.244460.354520.216650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6107675845874890798AG662875Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6108203986874893628TG200170Conflicting_interpretations_of_pathogenicityMitochondrial_Complex_V_(ATP_Synthase)_Deficie....0.00011.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6109363693874893880CT315225BenignMitochondrial_Complex_V_(ATP_Synthase)_Deficie...0.465090.494570.475040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6110363712874894748AG315245BenignMitochondrial_Complex_V_(ATP_Synthase)_Deficie.....0.216250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6111681267875262536GT663492Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6112695131875262798GC684027Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6113670530875262841GA663407Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6114681269875263943CTTC662880Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6115681275875272727CA662881Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6116681276875273933AG663412Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6117261065875274141TG253176BenignCharcot-Marie-Tooth_disease_type_2K|Charcot-Ma...0.253730.27740.219250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6118681294875274331CATC663509Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6119670531875275312CT662885Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6120363721875276959AG315149BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.233420.233430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6121363727875277399AG315268BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.987570.989821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6122363728875277432CG315275BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.233370.233430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6123363752875278457AG315173BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.241260.266770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6124363753875278480GT305869BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.227550.233631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6125363758875278816AG315188BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.232930.229430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6126363772877892834AT305894BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.517971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6127363777877893120TC305899BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.954271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6128363798877894303TC315255BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.985821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6129363804877894770AG305926BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.954271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6130167455877895865AG177936BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.989160.987780.996211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6131369615886376130AT353844BenignOsteopetrosis_with_renal_tubular_acidosis..0.99881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6132254787886389403TC253178BenignOsteopetrosis_with_renal_tubular_acidosis|not_...0.643090.58930.577680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6133369616887586151AG353845BenignAchromatopsia|Stargardt_Disease,_Recessive..0.856231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6134363844887586393GT305952BenignAchromatopsia|Stargardt_Disease,_Recessive..0.536741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6135291003887638279TC275240Conflicting_interpretations_of_pathogenicitynot_provided0.000460.00051.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
613695929887666251TG101825BenignAchromatopsia|Achromatopsia_3|not_specified|St...0.64059.0.679710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6137261090887679303AC253186BenignAchromatopsia|Achromatopsia_3|not_specified|St...0.87860.894610.957471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6138363882887680406GGA305979Benign/Likely_benignAchromatopsia|Stargardt_Disease,_Recessive|not......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6139363896890946056AG310029BenignMicrocephaly,_normal_intelligence_and_immunode.....0.335461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6140363898890946601TG310032BenignMicrocephaly,_normal_intelligence_and_immunode.....0.335261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6141363905890947269CG315495BenignMicrocephaly,_normal_intelligence_and_immunode.....0.330271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6142363909890947537CT315368BenignMicrocephaly,_normal_intelligence_and_immunode.....0.321881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6143258769890955624TA253191Benignnot_specified0.313930.353460.379190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6144183696890958422TC182835BenignHereditary_cancer-predisposing_syndrome|Microc...0.284190.345050.352840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6145258768890958530TC253192BenignHereditary_cancer-predisposing_syndrome|Microc...0.313130.352940.378990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6146183701890967711AG182857BenignHereditary_cancer-predisposing_syndrome|Microc...0.490310.467590.608630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6147199080890970935GA196239BenignHereditary_cancer-predisposing_syndrome|not_sp...0.284480.344590.353040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6148134876890990479CG138615BenignHereditary_cancer-predisposing_syndrome|Microc...0.286560.345270.357030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6149183697890995019CT182905BenignHereditary_cancer-predisposing_syndrome|Microc...0.313160.352720.379190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6150126307894792887GA131839Benignnot_specified|not_provided0.010610.014510.010380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
615196528894794620CT102422BenignNephronophthisis|Joubert_syndrome|Meckel-Grube...0.638650.634050.715060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6152126301894808165AG131833BenignNephronophthisis|Joubert_syndrome|Meckel-Grube...0.640420.636940.692890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6153369617894929079TA353846BenignPyruvate_dehydrogenase_phosphatase_deficiency..0.496610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6154363945894935937TC315572BenignPyruvate_dehydrogenase_phosphatase_deficiency0.404850.467570.495210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6155363952894936532GC306040BenignPyruvate_dehydrogenase_phosphatase_deficiency..0.593850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6156681229896044042TC662926Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6157676241896044076GA663529Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6158681230896046951AG663455Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6159671643896047470CTTC663427Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6160559318896047806TTAA,TA549952Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
6161681196896058218GA662929Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6162256850897157792GC253216Benignnot_specified0.03232.0.037740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6163681299897172403AG663547Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6164684319897247469AG663434Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61652626578100133706TG253219BenignCohen_syndrome|not_specified0.755650.750350.705071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61662626528100861146GA253228BenignCohen_syndrome|not_specified0.248580.177660.223640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6167958218100865836GA101718Benign/Likely_benignCohen_syndrome|History_of_neurodevelopmental_d...0.11964.0.111020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61683611018100888141CCCAA315548Likely_benignCohen_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61693611068100888322CTATC315735BenignCohen_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61703611078100888489CCTT310296Likely_benignCohen_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61713611088100888592CTGAC310304BenignCohen_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61723611238100889677CT306190BenignCohen_syndrome..0.205670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61732628048101203737TC252991Benignnot_specified0.1580.197920.150560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61742628058101206391GA252992Benignnot_specified0.157850.198580.150560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61752210088101206459AAGAC221749BenignCiliary_dyskinesia,_primary,_28|not_specified0.156810.199070.150360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61764109958101251617AT396533Likely_benignnot_provided0.001310.00105.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61772628028101252680TC252995Benignnot_specified0.637550.617910.62740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61785080978102504974CG501889BenignCORNEAL_DYSTROPHY,_POSTERIOR_POLYMORPHOUS,_4|n...0.998540.974260.961261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61797682528103573001CG700327Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61801001438105459793CA106020not_providednot_provided..0.597841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61811001448105463690AG106021not_providednot_provided..0.37641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61822601778106573578CT252998Benignnot_specified0.68269.0.720250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61833615198116421434GC312576BenignTrichorhinophalangeal_Syndrome..11|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61843615378116421936AC307528BenignTrichorhinophalangeal_Syndrome..0.613020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61853615608116423424TC312625BenignTrichorhinophalangeal_Syndrome..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61863615618116423490AT312569BenignTrichorhinophalangeal_Syndrome..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61873615828116424270AAC307545BenignTrichorhinophalangeal_Syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61883616018116425860AG312701BenignTrichorhinophalangeal_Syndrome..0.545530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61892603318116599199TG253013Benignnot_specified0.6704.0.771370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61902603298116635872TTA253016BenignTrichorhinophalangeal_Syndrome|Trichorhinophal...0.299440.37519.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61913616348116635942CT304025BenignTrichorhinophalangeal_Syndrome..0.68670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61923616418116680944AAGAGAGA312678Uncertain_significanceTrichorhinophalangeal_Syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61936691088117860152TC663116Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61946691068117861516TC663124Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61951598058117864217AG168582BenignHistory_of_neurodevelopmental_disorder|not_spe...0.12410.172770.133190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61961598098117866718AG168583Benign/Likely_benignnot_specified0.004920.003930.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61976686138117870375AG663141Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
619810008118184783CT16039risk_factorDIABETES_MELLITUS,_TYPE_2,_SUSCEPTIBILITY_TO.0.284890.255190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61992551758118819578CT253019Benignnot_specified|Hereditary_Multiple_Osteochondro...0.351070.397360.338461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62002551728118832020GA253022Benignnot_specified|Hereditary_Multiple_Osteochondro...0.164310.17460.120210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62011962158118847782GA193376BenignMultiple_congenital_exostosis|not_specified|He...0.246040.259580.173920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62021963498119941173AG193510BenignHyperphosphatasemia_with_bone_disease|not_spec...0.936650.933930.923721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62032587758119964052GC253030BenignHyperphosphatasemia_with_bone_disease|not_spec...0.588920.602410.666731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62043617028119964283GA307683BenignHyperphosphatasemia_with_bone_disease..0.62161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62058024388125570144GA790778BenignMITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62068024398125579990CT790779BenignMITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62076838158126040573CT663207Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62086838128126049191AG663162Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62096828228126050879CT663167Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62106710658126052488TC663125Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62115166508126056215GGC502579Benignnot_specified0.999840.9999711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62126698988126061712CT663170Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62136707238126068197TC663216Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62146828198126079772AT663133Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62153808268126085586GA370065Benignnot_specified0.162770.233010.225440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62166698598126096595TC663135Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62173617458133133361CT312763BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62183617578133134288GA312809BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62193617598133134366TC307788BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62203617618133134390GA312820BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62213617638133134434TC304178BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.134780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62223617648133134476AG312821BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.134780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62233617668133134553TC304180BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62243617678133134635GC307793BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.134780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62253617768133135169CT312838BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.139180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62263617848133135577TG307838BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62273617998133136551TC312891BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.722840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62283618028133136762CCCTGT304197BenignBenign_Neonatal_Epilepsy|Benign_familial_neona......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62293618098133137266TA307864BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.286340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62303618148133137532CT312923BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.31090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62313618238133137912CT312925BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.720850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62323618338133138474TC304229BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.143170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62333618348133138477TC312958BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.293130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62343618468133139755GA312980BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.268570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62356705918133142310GC663175Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62366749918133142353GA663144Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62376708838133150103CT663183Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62386837368133175446AG663160Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62396748978133459549AG663187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62403618978133492921CA313040BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.227441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62416837338133493283TC663202Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62426837318133493335AC663208Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62432602788133637659GA253039BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.55820.419050.486220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6244299068133877623AG38861risk_factorAutoimmune_thyroid_disease_3..0.592450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6245126978133900252TG27736Benign/Likely_benignThyroid_dyshormonogenesis|Autoimmune_thyroid_d.....0.676320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62462589898133900386TC253046Benign/Likely_benignThyroid_dyshormonogenesis|not_specified0.58650.582940.672720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6247126988133909974AG27737Benign/Likely_benignThyroid_dyshormonogenesis|Autoimmune_thyroid_d....0.584170.674920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62482589928133920411TC253049Benignnot_specified0.461480.570610.397760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62492589938133920518AG253050Benign/Likely_benignThyroid_dyshormonogenesis|not_specified0.461630.569720.398760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62502589948133931748TC253051Benign/Likely_benignThyroid_dyshormonogenesis|not_specified0.539910.591470.473840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62512589968133975283GA253052Benign/Likely_benignThyroid_dyshormonogenesis|not_specified0.37890.48460.346850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6252126968133984058CT27735Benign/Likely_benignThyroid_dyshormonogenesis|Autoimmune_thyroid_d....0.322620.332470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62532590008134108453CT253056Benign/Likely_benignThyroid_dyshormonogenesis|not_specified0.378830.434710.344650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62542590018134108546TC253057BenignThyroid_dyshormonogenesis|not_specified0.614720.502370.522360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62552590028134125682GA253058BenignThyroid_dyshormonogenesis|not_specified0.57420.497590.537340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62563620158134250165AG313152BenignCharcot-Marie-Tooth_disease_type_4..0.830270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62576676478134254051AG662665Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62586734308134256315CT663201Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62596676498134258711AG663210Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62601384338134260948AG142136BenignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.047670.090430.092650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62616676448134262532TC663213Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62626676418134274226CG663290Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62636676408134292288TC662705Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62642599168134292516AG253060BenignCharcot-Marie-Tooth_disease,_type_4D|Charcot-M...0.667850.563490.613421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62653695958140624798AAG353824BenignBirk-Barel_Intellectual_Disability_Dysmorphism.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62663620748141034189AT308163BenignIntellectual_Disability,_Recessive0.571580.630850.538341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62671306268141262869CT136072Benignnot_specified|Intellectual_Disability,_Recessive0.099720.123240.071690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62681306258141263015GA136071BenignHistory_of_neurodevelopmental_disorder|not_spe...0.099720.123680.071290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62697682678141561393GC777712Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62706914058142170884CT679171Uncertain_significanceHirschsprung_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62716914828142200467GA679172Uncertain_significanceHirschsprung_disease...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62723621898143993157AG304553BenignHyperaldosteronism,_familial,_type_I|Corticost.....0.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62733621918143993315CT304554BenignHyperaldosteronism,_familial,_type_I|Corticost.....0.132191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62743622078143995761CT308315BenignHyperaldosteronism,_familial,_type_I|Corticost...0.969320.909390.823481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62752631358144808747GA253062BenignAmelogenesis_imperfecta,_hypocalcification_typ...0.64820.681530.529151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62762631338144809804GA253064BenignAmelogenesis_imperfecta,_hypocalcification_typ...0.865830.949920.823281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62772631328144810138GA253065Benignnot_specified0.08090.276690.165940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6278930128144990335GA98919Benignnot_specified.0.430740.238220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6279930338144990528AG98940Benignnot_specified0.540660.419130.477040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6280930308144991176TC98937Benignnot_specified0.565540.418990.478440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6281930258144992103TC98932Benignnot_specified|not_provided0.58820.434320.490420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6282930238144992361TC98930Benignnot_specified0.568380.427490.478240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6283930228144992862AG98929Benignnot_specified0.53453.0.446090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6284930208144993324CT98927Benignnot_specified0.302090.34510.234030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6285930188144993377AG98925Benignnot_specified|not_provided0.56213.0.471850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6286930898144994888GA98996Benign/Likely_benignnot_specified0.053370.056850.027560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6287930878144995494CT98994Benignnot_specified0.307970.344370.230630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6288930848144995736GA98991Benignnot_specified0.302110.344630.230230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6289930838144996029AG98990Benignnot_specified0.563160.408510.466650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6290930788144996408TG98985Benignnot_specified0.295040.42970.231030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62912561788144996598GA253068Benignnot_specified|not_provided0.297950.344780.230630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62922561778144996635GA253069Benignnot_specified|not_provided0.294270.343210.230630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6293930738144997656CT98980Benignnot_specified0.288680.353550.230230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6294930718144997927GA98978Benignnot_specified|not_provided0.261710.465150.230630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6295930688144998169CT98975Benignnot_specified0.269920.363150.230830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6296930678144998190AG98974Benignnot_specified0.276120.361580.230830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6297930568144999417CT98963Benignnot_specified0.268150.375860.230830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6298930528144999621CT98959Benignnot_specified|not_provided0.271470.32950.224840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6299930518144999642AC98958Benignnot_specified0.27987.0.232630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6300930508144999684AG98957Benignnot_specified0.240510.335650.232630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6301930498145000056TC98956Benignnot_specified0.220960.391230.231030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63026679118145000221GA663307Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63036836938145000321CT663236Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63046679098145000740GA663240Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63056678918145000809GA663226Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63066678898145000898AG663314Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63071299478145001031TC135393Benignnot_specified0.561590.412770.466650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63086678878145001300TA663229Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63096678858145001311TC663235Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63102561758145001372TC253071Benignnot_specified|not_provided0.307690.34380.231030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6311930478145001509TC98954Benignnot_specified0.302180.343720.230830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6312930468145001588CT98953Benignnot_specified0.307520.348950.230830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6313930448145001784AG98951Benignnot_specified0.264980.368710.230830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63146678818145002283AG662711Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63156836928145002431CG663245Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63162561738145003777GA253073Benignnot_specified|not_provided0.29420.335430.225240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63171956548145004474GA192815Conflicting_interpretations_of_pathogenicitynot_specified|not_provided0.001810.001510.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63181299388145004546GA135384Benignnot_specified0.698770.741060.571890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63196679218145004944TC662716Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63206836908145005450TC663257Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6321930388145005688AAC98945Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6322930358145006790TC98942Benignnot_specified0.381480.359850.327480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63231299348145007187GA135380Benignnot_specified0.289560.366870.231430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63242270188145007534CT231312Benignnot_specified0.467120.380440.398360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63256679188145007947GA662720Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63266679178145007989AG663316Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63276679158145008342CA663248Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63282561708145008443AT253075Benignnot_specified|not_provided0.295670.33010.232030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63291299288145008560AG135374Benignnot_specified0.292470.330220.231430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63306679128145008706CT662733Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63312561688145008931GC253076Benignnot_specified|not_provided0.46196.0.393370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63326678928145009593AC663266Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63336678908145009610AG663250Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63346678888145010305AG663258Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63351299498145011204AG135395Benignnot_specified|not_provided0.29234.0.232430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63366678868145012206GA663269Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63376678848145012466AG662737Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63382561718145012777CG253077Benignnot_specified|not_provided0.29434.0.230430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63396678808145013315GT663274Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63406678778145013345CT663318Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63416678608145013893CG663283Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63426836888145013949CT663268Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63436836868145013987CCAG663323Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63443799598145150101TG370173Benignnot_specified|not_provided.0.879310.889581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63454034338145158446CT389762Benignnot_specified0.917890.946260.884591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63464034348145158503GT389779Benignnot_specified0.91490.947160.884781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63474034358145160646TC389855Benignnot_specified0.948560.984870.953281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63484025878145541766GT390517Benignnot_specified0.072320.068130.035940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63494025888145542021GA390518Benignnot_specified0.053710.049580.023360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63503808728145582839TC371714Benignnot_specified..0.457270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63514034598145640411AG390475Benignnot_specified0.966550.967820.984631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63522591998145699601TC253080BenignHoloprosencephaly_sequence|not_specified0.995780.970850.945691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6353948948145737286GA100794Benignnot_specified0.349970.466960.400561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6354948938145737514GA100793Benignnot_specified0.393250.506340.433311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63551675738145737636AG178005Benignnot_specified0.998410.972830.946091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6356948918145737816CT100791Benignnot_specified|not_provided0.341910.46120.384391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6357948908145738349GT100790BenignBaller-Gerold_syndrome|not_specified0.006440.011140.005390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6358948868145739924GA100786Benignnot_specified0.350520.480160.394571|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6359948848145741130CT100784Benignnot_specified0.364960.471560.400961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6360948988145741702CG100798Benignnot_specified|not_provided0.391870.437710.447681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6361948978145741765GA100797Benignnot_specified|not_provided0.339160.439430.370010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63621351618145742514AG138900Benignnot_specified0.995170.973320.943291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6363948858145742879TC100785Benignnot_specified|not_provided0.550690.555220.575081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63644033698145745182TC389833Benignnot_specified0.9990.973980.947681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63656732709215057TC664229Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63666769019215269AC663725Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63676738829271455TC663757Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63681371559271638CT140858BenignHyperimmunoglobulin_E_recurrent_infection_synd...0.318880.324490.307711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63691787669286593CA175103BenignHyperimmunoglobulin_E_recurrent_infection_synd...0.464250.520630.529750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63706732719316998CT663777Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63716768439317370GC664271Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63726676659325993GA664316Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63732632719328006TC253508Benignnot_specified0.66838.0.695891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63741631749334337AG174691Benignnot_specified|Hyper-IgE_syndrome0.282020.248790.199681|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63756696699337045GC664571Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63766768449367887AT664347Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63771371379370244AG140840Benignnot_specified|Hyper-IgE_syndrome0.251810.222560.215860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63786732739370370GC663824Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63796768209370439GA663828Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63806768459370531AG664353Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63816748659376122CT664386Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63826732749376179TA664377Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63836768219376538GT664379Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63841371399377111GC140842Benignnot_specified|Hyper-IgE_syndrome0.266570.233160.228630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63856750269380035GT664646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63866768469382294TC664652Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63876768369382390TC664400Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63886768519386094TG663847Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63896732909386559AC664407Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63901371419390512CT140844Benignnot_specified|Hyper-IgE_syndrome0.285020.234440.254990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63916732919390636AG663849Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63926738839396712TA664665Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63936738849397050AT663861Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63946676669398865AG664410Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63953669699399245CA319385Conflicting_interpretations_of_pathogenicityHyper-IgE_syndrome|not_provided0.000310.000720.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63961787699421032CG175111BenignHyperimmunoglobulin_E_recurrent_infection_synd...0.46263.0.391771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63971787709429719TC174698Benignnot_specified0.996770.997830.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63986676679430114CG664678Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63996676809431848AG663875Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64006676819431860TC663876Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64011631769432330CG174825Benignnot_specified|Hyper-IgE_syndrome0.669230.757710.714261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64026676829432625AG664429Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64036676839432628GT664421Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64041631779433978AG174549Benignnot_specified|Hyper-IgE_syndrome0.674920.758780.721051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64051787719441952GA174550BenignHyperimmunoglobulin_E_recurrent_infection_synd...0.742890.820060.803911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64066676849442272GC663878Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64072632709446352GC253561Benignnot_specified0.55828.0.632991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64083671029464920GA308579BenignHyper-IgE_syndrome..0.856031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64097170269744505GA723621Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641080245692170512GC790886BenignNicolaides-Baraitser_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641136634192193437TC318557Likely_benignNicolaides-Baraitser_syndrome..0.018770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641236634292193455AG317990Likely_benignNicolaides-Baraitser_syndrome..0.010980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641366758092621482CG664235Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641436635292622121AG318001BenignCongenital_cerebellar_hypoplasia|not_provided..0.81231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641536635492622134CT318566BenignCongenital_cerebellar_hypoplasia..0.30991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641629049392622146ACGGCGGCGGA274730Conflicting_interpretations_of_pathogenicityCongenital_cerebellar_hypoplasia|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641713071392622278GA136159BenignCongenital_cerebellar_hypoplasia|not_specified.0.321380.294930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641866758192622547CT664287Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641966758292622554TC664526Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642066758392635116GC664531Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642113070192644954CT136147Likely_benignCongenital_cerebellar_hypoplasia|not_specified0.15378.0.081670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642267439792645109GA664300Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642367439892645773TG664545Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642467083192647760AG664240Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642513070792648773AG136153Likely_benignCongenital_cerebellar_hypoplasia|not_specified0.140090.1450.073880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642667083292650264TG663741Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642767229892651340AG663743Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642813070992651962GT136155BenignCongenital_cerebellar_hypoplasia|not_specified0.255270.188010.171730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642967229992652589CT664248Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643036638392654419TC307997Likely_benignCongenital_cerebellar_hypoplasia..0.095850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643136640292717676TG318131BenignCone_dystrophy_3..0.197281/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643236640392717698CG312358BenignCone_dystrophy_30.589730.612650.671931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64339635792717922CG102251BenignCone_dystrophy_3|not_specified0.587960.611590.660341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64349636292718534CG102256BenignCone_dystrophy_3|not_specified0.435620.489580.480031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643536648292729989TA318746Likely_benignCone_dystrophy_3..0.057710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643636689193824934AATA,AA319285BenignDiabetes_mellitus,_neonatal,_with_congenital_h......1|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
643736689793825015TC308373Uncertain_significanceDiabetes_mellitus,_neonatal,_with_congenital_h.....0.006390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643836691293825540CT318680BenignDiabetes_mellitus,_neonatal,_with_congenital_h.....0.793131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643936691693825812GA308391BenignDiabetes_mellitus,_neonatal,_with_congenital_h.....0.953081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644036692993826471TTG318714BenignDiabetes_mellitus,_neonatal,_with_congenital_h.....0.967651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644136693593826710TG318738BenignDiabetes_mellitus,_neonatal,_with_congenital_h.....0.343650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644236693893827075CG318750BenignDiabetes_mellitus,_neonatal,_with_congenital_h.....0.386581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644336694693827607AAT319366BenignDiabetes_mellitus,_neonatal,_with_congenital_h......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644412916094118111GT134606BenignDiabetes_mellitus,_neonatal,_with_congenital_h...0.669270.672990.676121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644512915994118208AG134605BenignDiabetes_mellitus,_neonatal,_with_congenital_h...0.998720.999730.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644636703994544640TC308515Conflicting_interpretations_of_pathogenicityDicarboxylic_aminoaciduria|not_provided0.007770.006670.003390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644736704294564432GA319503BenignDicarboxylic_aminoaciduria0.356370.397070.328280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644836708494586808GC308540BenignDicarboxylic_aminoaciduria..0.228040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644936711494985542TC318934BenignBudd-Chiari_syndrome..0.290740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645036712295050706CT318940BenignBudd-Chiari_syndrome|not_specified0.356450.325690.358230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645136712995081780GA319566BenignBudd-Chiari_syndrome|not_specified0.624250.532750.616810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645236714995127974AACAT308609Likely_benignBudd-Chiari_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645377350895812883AG777823Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645425545496553514AAT253564Benign/Likely_benignNon-ketotic_hyperglycinemia|not_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645525545996610326CT253566BenignNon-ketotic_hyperglycinemia|not_specified|not_...0.23620.242410.192091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645678302798404607GA712042Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6457256642912704725CT253304Benignnot_specified0.44118.0.220850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6458256643912708958TTA253305Benignnot_specified0.51998.0.259780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6459364861912709305CA316831BenignOculocutaneous_albinism..0.2520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6460364863912709474ATAAGA310952BenignOculocutaneous_albinism...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6461364865912709586AT310966BenignOculocutaneous_albinism..0.241010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6462364867912709648AAATTA316559BenignOculocutaneous_albinism...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6463364872912710035AC316849BenignOculocutaneous_albinism..0.261581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6464364873912710090TC316569BenignOculocutaneous_albinism..0.272561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6465211516913125201TC207631Benignnot_specified0.615750.664710.556911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6466366056914735053TC312029BenignMarles_Greenberg_Persaud_syndrome..0.43570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6467366057914735064GC312034BenignMarles_Greenberg_Persaud_syndrome..0.556310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6468366059914735074TG318188BenignMarles_Greenberg_Persaud_syndrome..0.578280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6469366061914735140TC312051BenignMarles_Greenberg_Persaud_syndrome..0.130590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6470366063914735187CT318193Likely_benignMarles_Greenberg_Persaud_syndrome..0.088660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6471366066914735529AG312062BenignMarles_Greenberg_Persaud_syndrome..0.723441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6472366071914735694AG318200BenignMarles_Greenberg_Persaud_syndrome..0.723041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6473366075914736005TTA317706Likely_benignMarles_Greenberg_Persaud_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6474366079914736138AT307789Likely_benignMarles_Greenberg_Persaud_syndrome..0.06270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6475366085914736409AC317732Likely_benignMarles_Greenberg_Persaud_syndrome..0.055710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6476262545914737506TG253486BenignMarles_Greenberg_Persaud_syndrome|not_specified0.752570.738550.735021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6477262543914770658GT253488BenignMarles_Greenberg_Persaud_syndrome|not_specified0.362530.326810.254191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6478262542914775853AG253489BenignMarles_Greenberg_Persaud_syndrome|not_specified0.865080.867850.847241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6479262541914775859GA253490BenignMarles_Greenberg_Persaud_syndrome|not_specified0.519160.510060.416731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6480262539914776027CT253492Benign/Likely_benignMarles_Greenberg_Persaud_syndrome|not_specified0.161140.134060.106431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6481262538914801687TC253493BenignMarles_Greenberg_Persaud_syndrome|not_specified0.177670.21760.176921|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6482262537914801710CA253494BenignMarles_Greenberg_Persaud_syndrome|not_specified0.267840.324310.259980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6483262536914806848CA253495BenignMarles_Greenberg_Persaud_syndrome|not_specified0.191260.280860.151761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6484366142914813072GA312147Likely_benignMarles_Greenberg_Persaud_syndrome0.032750.03030.019570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6485262535914819370GT253496BenignMarles_Greenberg_Persaud_syndrome|not_specified0.20540.230260.164141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6486262534914846036CG253497BenignMarles_Greenberg_Persaud_syndrome|not_specified0.567140.600870.50080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6487262546914851617TC253498BenignMarles_Greenberg_Persaud_syndrome|not_specified0.727470.80540.769571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6488366172914859356TC318323BenignMarles_Greenberg_Persaud_syndrome0.150760.210010.24840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6489366182914869110CG318337BenignMarles_Greenberg_Persaud_syndrome..0.228440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6490120236916435714TC125830not_providedHypotension0.10341.0.078870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6491402871920764870TC389806Benignnot_specified0.350840.324270.280950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6492402872920885240GA389891Benignnot_specified0.57028.0.603831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6493402873920988426AG389813Benignnot_specified0.742970.742390.768570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6494366256921862271AC317926BenignDiaphyseal_medullary_stenosis_with_malignant_f.....0.469850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6495366317921865929CT307951Likely_benignDiaphyseal_medullary_stenosis_with_malignant_f.....0.010980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6496366434927202870AG318153BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma...0.446260.464880.414340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6497518397927203134AG508837BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma...0.4471.0.414940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6498366439927205021GA318674BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma...0.211290.211370.150960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6499366450927220066GA312397BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma...0.22459.0.224240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6500366455927229141TC318689BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma...0.211130.172370.223040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6501366478927230152GA318732BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma.....0.201680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
650295315932541532AG101214Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Dominant0.204680.185190.114220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
650395313932542204AG101212Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Dominant0.179380.207510.179110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6504214123932974570GGA211373Benignnot_specified|Ataxia_with_Oculomotor_Apraxia|C......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6505366647933113196GT318951BenignCongenital_disorder_of_glycosylation..0.948481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6506208122934635598TC204389Uncertain_significanceAmyotrophic_lateral_sclerosis_16,_juvenile0.98655.0.987421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6507402843934724059GA389913Benignnot_specified.0.269090.400960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6508260123935060955TC253528Benignnot_specified0.761730.746080.701880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6509260128935062972CT253532Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.759420.744180.701080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6510259478935077441TC253537Benignnot_specified0.761880.745890.701480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6511366742935079913TC319080BenignFanconi_anemia..0.12580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6512366744935079973TTA312648BenignFanconi_anemia..0.206470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6513366746935080011CA308268BenignFanconi_anemia..0.12580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6514366751935089048AC312668BenignHyperphosphatasia-intellectual_disability_synd...0.982320.994960.984031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6515670827935089498GA664322Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6516262093935093020TC253543BenignHyperphosphatasia-intellectual_disability_synd...0.518990.544030.474040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6517670826935093849GA664331Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6518262100935094373GA253544Benignnot_specified0.04867.0.12620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6519780046935397166CG711959Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6520138922935658062GT142625Benignnot_specified.0.475920.486820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6521138920935658072AG142623Benignnot_provided..0.304510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
652294123935684822CCG100023Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6523140484935689373TC150162Benignnot_provided..0.480031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6524679869935690102AG664346Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6525516643935739115GGC502951Benignnot_specified0.692470.687470.710460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6526366776935792423TC312693BenignAcromesomelic_Dysplasia0.288230.238540.31350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6527366787935802583CT312716BenignAcromesomelic_Dysplasia0.28810.231460.31250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6528366804936214971GA312726BenignSialuria|GNE_myopathy|Inclusion_Body_Myopathy,.....0.569290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6529366811936215581CT319172BenignSialuria|GNE_myopathy|Inclusion_Body_Myopathy,.....0.133590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6530366825936216426GA312748BenignSialuria|GNE_myopathy|Inclusion_Body_Myopathy,.....0.300320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6531681355936217798GA663808Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6532681354936218018CG664336Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6533681770936218377CG664337Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6534681839936220134TC663809Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6535681838936222649CG664354Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6536671400936223801CT663814Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6537681753936246594TC664345Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6538257526936276857AG253556Benignnot_specified|not_provided0.786120.727530.651761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6539672297936277171CT664629Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6540134998936840623GA138737not_providednot_specified0.763120.868670.742011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6541204220937426524CT200625BenignPrimary_hyperoxaluria|Primary_hyperoxaluria,_t...0.922110.976420.919531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6542204222937429661AG200633Uncertain_significancePrimary_hyperoxaluria,_type_II.0.893440.852041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
654321490937429814AG34342BenignPrimary_hyperoxaluria|Primary_hyperoxaluria,_t...0.856990.892460.849241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6544136360938395940TC140063Benignnot_specified0.920810.954160.93671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6545136362938396065GT140065Benignnot_specified0.50331.0.394970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6546136365938396502GA140068Benignnot_specified0.921880.953930.93851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6547768301943828112AG706378Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6548129120971650752AG134566BenignFriedreich_ataxia_1|not_specified|Cardiovascul....0.999340.984821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6549196398971831398TC193559Benignnot_specified0.903810.920890.894171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
655044091971843023CA53259Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.758040.811460.772170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6551259554971865932GA253576Benignnot_specified0.405040.370420.359820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6552367237971869473GA319047Likely_benignNonsyndromic_Hearing_Loss,_Dominant.0.51830.456670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6553508095971990645CT503181Benignnot_specified0.305320.394920.31311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6554367245975136789GA313238BenignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom.....0.512180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6555367250975231370AG308681BenignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom.....0.539540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
655647874975303653CT57038Benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.527370.460950.510780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6557562091975404222GGA553260PathogenicDeafness,_autosomal_recessive_7...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
655847863975431076CT57027Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.102340.092720.048120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6559367300977376633AG319708BenignHypomagnesemia_1,_intestinal0.153080.101590.168730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6560367301977376647TC308709BenignHypomagnesemia_1,_intestinal0.235430.211230.294930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6561367314977407636CT319714BenignHypomagnesemia_1,_intestinal0.135090.235040.268370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6562367337979792438GC319772Likely_benignChoreoacanthocytosis..0.084460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6563367371979897117GA313352Likely_benignChoreoacanthocytosis0.11250.091550.083870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6564367399979952468AT319227BenignChoreoacanthocytosis0.154950.109430.12480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6565367402979954545TC319826Benign/Likely_benignChoreoacanthocytosis|not_provided0.208750.181910.162740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6566367404979955305AAT319827Likely_benignChoreoacanthocytosis...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6567367428979986057AG319242BenignChoreoacanthocytosis|not_provided0.39766.0.415140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6568367437980031144GA308831Likely_benignChoreoacanthocytosis..0.165340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6569367445980031946CT308846BenignChoreoacanthocytosis..0.575680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6570367449980032300CA319255BenignChoreoacanthocytosis..0.24940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6571517538980851350GC497120Benignnot_specified0.301260.419160.283750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6572517539980851527GA497057Benignnot_specified0.312130.371640.283950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6573367450980912115GC319878BenignPhosphoserine_aminotransferase_deficiency0.801140.790090.760380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6574367454980919756TG313452BenignPhosphoserine_aminotransferase_deficiency0.635630.621970.49940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6575403012986468715AT389874Benignnot_specified0.69591.0.653161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6576403013986474115TC389828Benignnot_specified0.140270.122770.120810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6577403016986518796TC389912Benignnot_specified0.140320.122570.120810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6578683368993982932CT664439Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6579683351994124414TC664444Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6580367493994485768GCTCTG319315BenignBrachydactyly|Robinow_syndrome,_autosomal_domi......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6581199097994485928CT196256BenignBrachydactyly|Robinow_syndrome,_autosomal_domi...0.719740.731360.757390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6582159818994486321CT168799BenignBrachydactyly|Robinow_syndrome,_autosomal_domi...0.700740.710320.7480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6583159815994486688GA168802BenignBrachydactyly|Robinow_syndrome,_autosomal_domi...0.432650.426780.415340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6584159821994495608TC168809BenignBrachydactyly|Robinow_syndrome,_autosomal_domi...0.678840.63180.644971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6585259431994518328CT253585Benignnot_specified0.70060.675240.6231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6586159823994538115CG168811BenignBrachydactyly|Robinow_syndrome,_autosomal_domi...0.248960.235340.191690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6587367550994830356CA319975Benign/Likely_benignNeuropathy_hereditary_sensory_and_autonomic_ty...0.02061.0.011580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6588678245995477951GT663918Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6589670372995480251GA664457Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6590678244995481975CG664458Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6591670371995482536GC663925Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6592678242995485323CCCCTGACA664462Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6593678240995491094TC663929Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6594678238995526667GC664697Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6595256318997365642GA253586Benign/Likely_benignFructose-biphosphatase_deficiency|not_specified0.505610.524440.487021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6596256326997365720TC253587BenignFructose-biphosphatase_deficiency|not_specified0.885280.863730.907151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6597256324997369083GA253589Benign/Likely_benignFructose-biphosphatase_deficiency|not_specified0.503080.526590.483231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6598256323997369149CT253590BenignFructose-biphosphatase_deficiency|not_specified0.954410.956070.976441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6599256321997372172CT253592Benignnot_specified0.409660.40150.344251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6600367618998205443CA320065Likely_benignHoloprosencephaly_sequence|Gorlin_syndrome..0.215260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
660141663998209594GA50102BenignHoloprosencephaly_sequence|Gorlin_syndrome|Her...0.29925.0.396771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6602255668998270646TTGCCGCC253618Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6603668604998279370TA664509Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6604255510999006578TC253620Benignnot_specified0.296330.226620.18871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6605255509999013663AG253621Benignnot_specified0.880290.847980.867411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6606255508999064202CCA253622Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66071902069100459578TC187985BenignXeroderma_pigmentosum|not_specified0.74696.0.646370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6608950969100616583TC100996BenignBamforth_syndrome|not_specified0.802710.800530.882791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6609950989100617021CT100998BenignBamforth_syndrome|not_specified.0.686390.68610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66101321569101340316TC18370..0.186910.168580.161141/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66112628479101533220CT253637Benignnot_specified0.96304.0.87521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66122628519101558444GA253655Benignnot_specified.0.260530.12380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66132628439101558609GA253656Benignnot_specified.0.692310.265971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66141621709101908365TG171883not_providednot_provided..0.300920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66153641129101912471AG313819BenignLoeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th.....0.331870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66163641559101914387GA320250BenignLoeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th.....0.325880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66173641899101916165TG313875BenignLoeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th.....0.329870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66183642209102861613TG310311BenignNephronophthisis|not_specified..0.278750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6619955949103015184TC101492BenignNephronophthisis|Infantile_nephronophthisis|no...0.30970.322440.210460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6620955979103054951TC101495BenignNephronophthisis|Infantile_nephronophthisis|no...0.57389.0.407350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66212604149103059476AG253246Benignnot_specified0.64954.0.757990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66226747039103341014GA663440Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66233642679104123762GT310356BenignHypercholanemia..0.731430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66243642759104124664CT306252BenignHypercholanemia0.797940.788630.714060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66252575189104133628CT253251Benignnot_specified|Hypercholanemia0.63140.646110.56290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66263642889104182940TC306261BenignHereditary_fructosuria..0.49780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66273643069104184022GA315824BenignHereditary_fructosuria..0.441890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66283643419107544700CT306320BenignTangier_disease|Familial_High_Density_Lipoprot.....0.857631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66293643509107545129TAT310442BenignTangier_disease|Familial_High_Density_Lipoprot......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66303643519107545156GA310443BenignTangier_disease|Familial_High_Density_Lipoprot.....0.441090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66313643619107545903GA315940BenignTangier_disease|Familial_High_Density_Lipoprot.....0.445490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66323643989107562804TC315817BenignTangier_disease|Familial_High_Density_Lipoprot...0.585040.693630.538341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66333644519107602678GA306387BenignTangier_disease|Familial_High_Density_Lipoprot...0.09895.0.082070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
663495069107620867CT24545BenignTangier_disease|Coronary_heart_disease_in_fami....0.329940.43970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66353644609107624029CT315879BenignTangier_disease|Familial_High_Density_Lipoprot...0.32224.0.37240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66363644689107665978CG306401BenignTangier_disease|Familial_High_Density_Lipoprot...0.089170.178980.141770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66373644709107666035GGC316138BenignTangier_disease|Familial_High_Density_Lipoprot......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66383644819107690450GA316143BenignTangier_disease|Familial_High_Density_Lipoprot.....0.361220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66393696199107690535GC353848BenignTangier_disease|Familial_High_Density_Lipoprot.....0.787141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66403644849108335958GC316150Likely_benignFukuyama_congenital_muscular_dystrophy|Dilated.....0.166930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6641935229108366734GA99427Benign/Likely_benignFukuyama_congenital_muscular_dystrophy|Limb-gi...0.264570.244610.158150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66426801959108369060GA663471Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66436726959108370361TC663573Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66446711129108380004GA662952Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6645935109108380355CA99415Benign/Likely_benignFukuyama_congenital_muscular_dystrophy|Limb-gi...0.290880.251850.178320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66462834689108401923GAG267705Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66473645249108402586GA315938Uncertain_significanceFukuyama_congenital_muscular_dystrophy|Dilated.....0.109230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66483645259108402607GA306441Uncertain_significanceFukuyama_congenital_muscular_dystrophy|Dilated.....0.067690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66496696609108483589GA663588Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66503645369111630044GT306458BenignFamilial_dysautonomia..0.447280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66513645459111630324CT316271Likely_benignFamilial_dysautonomia..0.075081|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66526819169111631647CT663463Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66536819549111636986CT663481Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66546734469111637304GT663589Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66556819529111637471GT663467Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66566819499111640524GC663482Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66576819489111640553TG662964Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66586819479111640595AG662967Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66596819459111640631CT663596Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66606818929111640667CT663483Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66616818919111641527GA663469Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66622591139111641825GA253259Benign/Likely_benignFamilial_dysautonomia|not_specified|not_provided0.21190.198780.245010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66636819399111643875GA663485Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66646819189111651407AC662987Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66652591129111651620AT253260Benign/Likely_benignFamilial_dysautonomia|not_specified|not_provided0.21252.0.245810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66666734459111653460AG663484Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66676819149111655064AG662994Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66686836379111655932AT663487Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66696819129111661150GA663617Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66706705329111670707TC663525Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66716818679111670824TC663527Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66726818619111673137GC663029Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66736818569111678428TA663531Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66742591159111679964CCA253264Benign/Likely_benignFamilial_dysautonomia|not_specified0.12360.09590.086461|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66756818559111680865TC663034Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66761375839111688828CT141286Benign/Likely_benignFamilial_dysautonomia|not_specified|not_provided0.073270.093560.079870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66776818529111693132TC663507Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66784762989111929420CGGC458810Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66796713399113444694AG663691Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66806734679113449078GA663044Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66816832249113449271GC663045Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66822598089113449377TC253267Benignnot_specified0.049260.056970.057110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66836674619113457348GA663517Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66841296359113457726GA135081Benignnot_specified|Congenital_Myasthenic_Syndrome,_...0.154480.241560.170130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66856840849113459369GA663693Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66862598119113459768CG253270Benignnot_specified|not_provided0.05828.0.069090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66876832259113490776CT663697Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66886840789113509778CT663048Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66892598139113524511ATA253272Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66906674629113539185TA663712Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66916674639113539210GT663717Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66926734839113546795AG663538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66936840799113547001AC663521Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66942598019113547322TC253275Benignnot_specified|not_provided0.941810.944890.970051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66952598049113550168TC253278Benignnot_specified|not_provided0.480340.486480.37661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66961296339113563143GT135079BenignPena-Shokeir_syndrome_type_I|Myasthenic_syndro...0.09469.0.106830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66973646189116148630CT306496BenignPorphobilinogen_synthase_deficiency..0.780551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66983646219116148767CTTC316070Likely_benignPorphobilinogen_synthase_deficiency..0.011980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66993646329116150109GA306504BenignPorphobilinogen_synthase_deficiency..0.597641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67003646639116163570CCGGGG316096Uncertain_significancePorphobilinogen_synthase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67016787799117166034TC663054Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6702456729117166246AG54837Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.410730.478560.406351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67031630459117166338GC174544BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.993540.997960.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6704456639117169033AG54828Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.4920.53110.481631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67056787789117169300AG663059Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67066715229117169973GGGTCAAA663523Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67076787779117185395AG663727Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6708456509117186677AG54815Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.762110.794130.830071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6709456409117188566CT54805BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.980620.994180.977241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67101370789117265406CT140781Benignnot_specified..0.255390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6711456449117266965CT54809Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.322730.333930.255590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67123647009117267172GA316505Likely_benignRetinitis_pigmentosa-deafness_syndrome|Nonsynd.....0.255390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67133647049117267472GT316132Likely_benignRetinitis_pigmentosa-deafness_syndrome|Nonsynd.....0.276160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67143647079117267591CT316135Likely_benignRetinitis_pigmentosa-deafness_syndrome|Nonsynd.....0.276360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67153647119117267681AGCCTCCGCA316153Likely_benignRetinitis_pigmentosa-deafness_syndrome|Nonsynd......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6716954959119461275GA101394Benign/Likely_benignSarcotubular_myopathy|Bardet-Biedl_syndrome|no...0.10680.109470.103630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67173647239119462112CT310785BenignBardet-Biedl_syndrome|Limb-Girdle_Muscular_Dys.....0.949081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67187718809121929932CT700773Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67196688639123202516TC663577Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67201367059123220829AG140408Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_3|not...0.184070.150390.232830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67211581329123249744AC168738Likely_benignnot_specified0.163250.148910.210460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67221581279123280950TC167980Benignnot_specified|not_provided0.836920.876260.795730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67236783049123287592CG663781Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67241581719123290996CA168744Likely_benignnot_specified0.0958.0.146970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6725216579123291036CG34509BenignPrimary_autosomal_recessive_microcephaly_3|not...0.848380.877170.801120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67261367079123301346TG140410Benign/Likely_benignnot_specified|Primary_Microcephaly,_Recessive0.06028.0.116610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67276783039123308276TC663551Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67286688609123312819CT663554Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67296704439123313246TC663578Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67306783029123330813TC663082Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6731958969123342259CA101792BenignPrimary_autosomal_recessive_microcephaly_3|not...0.973780.992140.980431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6732958959123342275AG101791BenignPrimary_autosomal_recessive_microcephaly_3|not...0.958790.987820.965461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67336688599123342609GA663084Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67344035649123671520GA389868Benignnot_specified0.693760.687680.732031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67354024549123769200CT389792Benignnot_specified0.324850.458640.404751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67364024559123780005GA389839Benignnot_specified0.324540.456980.405751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67374032719125391770CCA390573Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67381807039126139229GA178868BenignFocal_segmental_glomerulosclerosis_9|not_provided0.001150.00135.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67397018159127243637AG687351Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67407018169127244955GA687352Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67412586229129377855GC253286BenignNail-patella_syndrome|not_specified0.295020.340270.227641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67423649099129459314CT310869BenignNail-patella_syndrome..0.218050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67433649129129459438GA316399BenignNail-patella_syndrome..0.205671/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67443649139129459478CT316653BenignNail-patella_syndrome..0.234030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67453649359129460312AG310880BenignNail-patella_syndrome..0.410340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67463649399129460396CT306743BenignNail-patella_syndrome..0.216850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67473649529129460914AG310893BenignNail-patella_syndrome..0.497010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67483649579129461318CTTC316709BenignNail-patella_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67493649619129461714CT316717BenignNail-patella_syndrome..0.287340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67503649649129461912AG316722BenignNail-patella_syndrome..0.301520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67513649679129462072TC316735BenignNail-patella_syndrome..0.279150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67523649689129462076GA316736BenignNail-patella_syndrome..0.215460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67533649799129462501GT310920BenignNail-patella_syndrome..0.540740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67543649829129462563AG310921BenignNail-patella_syndrome..0.548120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67553649839129462594TC316487BenignNail-patella_syndrome..0.548320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67563649879129462687CA316496BenignNail-patella_syndrome..0.532350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67573649929129462901TC316768BenignNail-patella_syndrome..0.551120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67586705369130216951GT663086Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67596831209130217050CG663090Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67603650099130219669CT306822BenignCharcot-Marie-Tooth_disease_type_2P|Charcot-Ma...0.60549.0.557511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67616705379130219743TC663582Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67626705389130221388TC663102Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67636831239130223754GA663557Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67646842459130224927AG663784Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67656704979130236243GA663794Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67666831189130240980AG663806Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67676704969130241822TC663811Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67683650209130242109CT310994BenignCharcot-Marie-Tooth_disease_type_2P|Charcot-Ma...0.446230.423250.352041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67693650219130242166AG306833BenignCharcot-Marie-Tooth_disease_type_2P|Charcot-Ma...0.741810.777620.727241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67706831259130245545GC663106Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67716842489130248366TA663813Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67726831279130251512GA663820Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67736831199130253286GGA663821Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67746831299130258160AT663591Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67753650339130259618AC310996BenignCharcot-Marie-Tooth_disease_type_2P|Charcot-Ma...0.73858.0.728831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67766701439130430116AG663132Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67776701449130446493AG663138Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67784393969130630639AG433354Benignnot_specified0.998160.999450.99821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67791289219130698029GC134368BenignCongenital_disorder_of_glycosylation|Congenita...0.80440.78730.683511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67801289209130698043AG134367BenignCongenital_disorder_of_glycosylation|Congenita...0.80571.0.731031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67816793369130699917GA663618Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67823651189130700251TC306884BenignCongenital_disorder_of_glycosylation|not_provided..0.683911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67833651259130700727TC306897BenignCongenital_disorder_of_glycosylation|not_provided..0.683911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67844030299130914170CG389888Benignnot_specified0.4757.0.479231|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67856792989130981064CT663636Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67866792999130981145TA663620Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67876793139130981666GC663638Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67886793009130982416CT663874Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67896793019130984430CA663639Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67903807779130984755CT370266BenignHistory_of_neurodevelopmental_disorder|not_spe...0.404280.532550.454670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67916793169130988615CA663151Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67926793039130988616CT663625Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67936793049131001692GC663881Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67946793079131012256TC663664Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67956793099131015279GA663887Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67961288329131088076GA134280Benignnot_specified|not_provided0.0925.0.133390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67976835619131088464CT663678Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67983800119131095112AC372181Benignnot_specified0.354220.2450.37780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67996762019131095332CT663641Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68002568599131277769CTTATTTTC253313Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68011981099131285955AG195270BenignLethal_arthrogryposis_with_anterior_horn_cell_...0.264720.267870.347440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68022568569131289600GT253316Benignnot_specified0.20268.0.269370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68032568589131298590AG253318Benignnot_specified0.262420.267980.347050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68043651369131303522GA317080BenignLethal_arthrogryposis_with_anterior_horn_cell_.....0.265970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68056807869131329591GA663889Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68066701309131331320CT663680Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68076807879131331450AG663682Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68086706239131337389CT663894Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68091600239131337661AC168756Likely_benignnot_specified0.96871.0.951481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68106701319131337843AG663177Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68116807889131340810TA663650Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68126807899131340845TC663193Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68136807909131341642TC663690Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68146701329131341669GA663196Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68151600019131347165GA168766Likely_benignnot_specified0.969170.990980.969051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68161600029131347169CT168767Benignnot_specified|not_provided0.733280.792830.619210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68176705759131348440CG663667Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68186807919131348501GA663702Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68191600099131360750CT168774BenignSeizures|not_specified|Early_Infantile_Epilept...0.760420.806380.642770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68206705769131366070GA663718Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68211600139131374165CG168778Likely_benignnot_specified0.968860.991130.968251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68221392979131379967CT143000BenignSeizures|not_specified|Early_Infantile_Epilept...0.732820.791320.617010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68236750069131380149CG663732Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68241600189131380225AC168783Benignnot_specified|not_provided0.210670.186630.309311|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68251600219131388643CT168786Benignnot_specified|not_provided0.723590.791510.611420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68266705779131389194GC663692Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68276701339131389215TC663237Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68286701349131389544CT663239Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68296807929131390472CA663251Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68301600259131392553GA168789Likely_benignnot_specified0.930650.974930.919331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68316807959131392904GGT663734Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68326807969131392942TG663253Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68335162149131397479GA502578Benignnot_specified0.732590.788270.621410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68345162139131398636CT502261Benignnot_specified0.706880.804560.601440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68355162129131403096AG502581Benignnot_specified0.835460.826820.740021|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68365162039131418828AC502690BenignShort-rib_thoracic_dysplasia_11_with_or_withou...0.998410.9998.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68374030619131670919TC389851Benignnot_specified0.585740.694380.571090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68384398739131670952CT433677BenignAgammaglobulinemia_5,_autosomal_dominant0.019840.036680.030550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68394032639131761437AG389857Benignnot_specified0.295020.349370.261781|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68404032649131761899AG389889Benignnot_specified0.295710.356730.279150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68414032659131764014AC389875Benignnot_specified0.1710.150030.244410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68424032669131767668AC389796Benignnot_specified0.425340.431280.451681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68433652169132575426GCG307031Likely_benignDystonia_1..0.156750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68443652259132575837CA316771Likely_benignDystonia_1..0.078670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68453652299132576060CA316779Likely_benignDystonia_1..0.158750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68462551349132585058GA253324Benign/Likely_benignDystonia_1|not_specified0.234280.227470.226240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68473652399133320102GGT307052Uncertain_significanceCitrullinemia_type_I...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68486832979133327439TC663720Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6849923709133346920AG98281BenignCitrullinemia_type_I|not_specified0.765110.850030.792331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68508025199133346983AG790846BenignCitrullinemia_type_I...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68516833179133347080GA663936Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68522547499133355874AG253332Benignnot_specified0.88874..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6853923769133364757TC98287Benign/Likely_benignCitrullinemia_type_I|not_specified0.102880.094160.076680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68542910849133884600CT275321Conflicting_interpretations_of_pathogenicitynot_specified|not_provided.00.004990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68554357419133901819CCAG428927Benign/Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68561294749133911598AG134920Benign/Likely_benignCortical_malformations,_occipital|not_specified0.87117.0.848241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68571294779133911706CT134923Benign/Likely_benignCortical_malformations,_occipital|not_specified0.396680.455790.398360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68581294489133914321CT134894Likely_benignnot_specified0.077440.077460.074880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68591294499133914570GA134895Benign/Likely_benignCortical_malformations,_occipital|not_specified0.206520.211790.154951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68606829959133921251CG663254Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68616840329133921333GA663740Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68621294519133924451CT134897BenignCortical_malformations,_occipital|not_specified0.273110.284050.258590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68631294529133927878AG134898Likely_benignnot_specified0.4950.459240.471250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68641294549133928345CT134900Benign/Likely_benignCortical_malformations,_occipital|not_specified0.4910.449570.479830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68656829969133932240AC663262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68666829979133932676CT663264Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68676829989133936334GA663747Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68686709579133936381GA663272Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68691294569133936571CG134902Benign/Likely_benignCortical_malformations,_occipital|not_specified0.86512.0.786741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68706829999133936775CT663278Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68716840339133942844TC663951Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68726840359133942872GA663954Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68736840369133942889AC663728Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68746840399133942899GA663279Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68756840419133943145CG663751Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68766693929133943172TTG663753Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68776840439133943181CT663754Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68786830009133944065GA663955Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68796840449133946574GA663731Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68806830039133946774CT663738Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68811294589133946909GA134904Benignnot_specified0.33485.0.292930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68821294599133946915CG134905Benignnot_specified0.334850.369430.293130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68831294609133948049AG134906BenignCortical_malformations,_occipital|not_specified0.767570.793120.699081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68846830069133954288CT663280Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68851294649133962853CT134910Benignnot_specified0.206210.235940.167730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68861294659133962930CT134911Benign/Likely_benignCortical_malformations,_occipital|not_specified0.302010.284710.222051|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68871294669133963008GA134912Benignnot_specified0.203450.230920.163340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68881294679133963101AG134913Benign/Likely_benignCortical_malformations,_occipital|not_specified0.377060.407980.371210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68896830079133963322CT663285Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68906839339134382111GA663742Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68916679789134382556GA663286Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68926679799134382673CT663960Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68936839409134383958CT663758Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68946679809134384066AG663288Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68952601499134384277TC253336Benignnot_specified|not_provided0.880670.923290.871011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68966679819134384500CT663761Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68976679829134384513AG663762Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68982270219134385436AG229676Benignnot_specified0.879290.923020.870611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68992601519134385599AG253338Benignnot_specified|not_provided0.88052.0.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69006679839134385977GA663291Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69016839429134386425TA663745Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69022601529134386675TG253339Benignnot_specified|not_provided0.975630.993130.981231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69031675199134386744TC177969Benignnot_specified0.880520.923080.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69042601399134386903GA253340Benignnot_specified|not_provided0.880590.923110.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69056680029134387038GA663967Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69066680039134387100GA663294Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69076839449134387133TC663746Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69086680049134387255CT663970Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69096680059134387315CG663764Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69101675209134387488TC177970Benignnot_specified0.880520.923190.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69116693939134388340TTC663766Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69126680069134388446GA663767Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69136709639134394163AG663299Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69146680099134394646AG663752Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69152601429134395628CG253343Benignnot_specified|not_provided0.841070.900840.831471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69166680119134395687CA663787Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69176839489134396394AG663308Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69186680139134397057CG663795Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69196680149134397186TC663987Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6920954609134397624CT101359Benignnot_specified|Limb-Girdle_Muscular_Dystrophy,_...0.841690.899610.831671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69216680159134398249CT663768Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69222601369134398534TC253349Benignnot_specified|Limb-Girdle_Muscular_Dystrophy,_...0.878980.924450.870411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69232884279134398719TC272664Benignnot_specified|Limb-Girdle_Muscular_Dystrophy,_.....0.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69243652909134398771TC307106BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.871211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69253652919134398778AG311230BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.981231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69263652939134398841CT311243BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.866411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69273652959134398946TC317271BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.7491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69283653059135137364TC307130Likely_benignAmyotrophic_Lateral_Sclerosis,_Dominant|Ataxia.....0.095450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69293653329135139193ATCA307148Likely_benignAmyotrophic_Lateral_Sclerosis,_Dominant|Ataxia......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6930956699135139901TC101566Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.444180.392610.538740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69312605169135150616TC253351Benignnot_specified0.151340.172880.250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69322605149135152439AG253353Benign/Likely_benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.094190.091150.094650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69332605139135153668CT253354Benignnot_specified0.44310.388410.533950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6934956679135172412AG101564Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.307170.288010.441690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6935956669135173454CCA101563Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.226070.252830.3740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6936956659135173685TC101562Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.306780.275790.443090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6937956649135187128GA101561Benignnot_specified0.22543.0.37480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6938956639135202829TC101560Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.693760.725160.556110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6939956629135203231CT101559BenignAmyotrophic_lateral_sclerosis_type_4|not_speci...0.693070.725080.556110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6940956619135203409AC101558Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.79294.0.640580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69411937169135203838GA190879Benign/Likely_benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.067050.107230.114221|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6942956589135206460AG101555Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.775450.74770.62660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69433654149135767943CT316990BenignTuberous_sclerosis_syndrome|Focal_cortical_dys.....0.725840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69443654769135770115CT317457BenignTuberous_sclerosis_syndrome|Focal_cortical_dys.....0.773360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69453654779135770134GA317459BenignTuberous_sclerosis_syndrome|Focal_cortical_dys.....0.450680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69463654799135770300GA311481BenignTuberous_sclerosis_syndrome|Focal_cortical_dys.....0.552120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69473654809135770347AC317467BenignTuberous_sclerosis_syndrome|Focal_cortical_dys.....0.74820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69483655049135771332GAG317055BenignTuberous_sclerosis_syndrome|Focal_cortical_dys......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6949416979135771987CCGCT50136BenignTuberous_sclerosis_syndrome|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69506706919135776034CT663309Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69516687269135802298AG663778Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69526764229136223043CG663990Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69531393779136223366GA143080BenignLeigh_syndrome|not_specified.0.535360.511980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69546666129136291063CT654535Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69552428069136301982CG20852BenignUpshaw-Schulman_syndrome|not_specified.0.453020.271570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69562624509136324239CA253402BenignUpshaw-Schulman_syndrome|not_specified0.24731.0.230630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69576805229136401425GA663780Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69586804619136401606AC663992Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69596805239136402345TA663995Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69606804629136403754TC663997Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69616804639136404694TC663786Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69626804649136404724AG663812Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69636804659136409367TC663816Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69646804669136409404GC663817Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69656804679136409420AG663999Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69666805199136409457AG663818Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69676804689136409529CT664001Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69683655789136409580TG307319BenignGeleophysic_dysplasia_1|Geleophysic_dysplasia|...0.87713..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69696804709136409854CT663789Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69706804719136412041CT664007Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69713655819136412170CT311619BenignGeleophysic_dysplasia_1|Geleophysic_dysplasia|...0.875370.819380.724041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69723655829136412236AT307323BenignGeleophysic_dysplasia_1|Geleophysic_dysplasia|...0.875520.819680.724641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69733655839136412255AC307324BenignGeleophysic_dysplasia_1|Geleophysic_dysplasia|...0.8756.0.724641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69743655859136412346CT311626BenignGeleophysic_dysplasia_1|Geleophysic_dysplasia|...0.874980.818090.720451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69756804729136412382TC664018Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69765183969136434598AG508836BenignGeleophysic_dysplasia_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69773656149136440144GA311656BenignGeleophysic_dysplasia..0.463660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69782177599136500515TC214409BenignOrthostatic_hypotension_1..0.787340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69792177589136505114AG214410BenignOrthostatic_hypotension_10.57320.459870.429910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69803656379136505127CT307375Likely_benignOrthostatic_hypotension_10.04498.0.027960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69813656539136509448CG317212BenignOrthostatic_hypotension_10.1414.0.12440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69823656619136518097AG317218BenignOrthostatic_hypotension_10.525450.557070.621210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69833656679136522187AG317226BenignOrthostatic_hypotension_10.232970.273370.240420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69847683359136637177AACACACGGCCCCGGCGGTCACTGCGTGAGGGC777727Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69853657019137533787TG311702BenignEhlers-Danlos_syndrome,_type_7A|not_provided..0.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69866833699137582487CT663804Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69876722379137582580GA663826Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69886722399137593392CT663370Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69896833719137618792GA663819Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69906722409137618970GA663829Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69911369229137619195CT140625BenignEhlers-Danlos_syndrome,_type_7A|not_specified|...0.33215.0.342651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69926722419137619425TG663853Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69936833749137619514GC663834Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69946722429137620336GA663854Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69952551009137620474CT253405Benignnot_specified|not_provided0.37137.0.408951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69966722439137620847AC663845Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69972551029137622033AG253406Benignnot_specified|not_provided0.371420.459320.408151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69982551019137622039GA253407Benignnot_specified|not_provided0.370980.459040.408751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69996722449137622455AC664051Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70006722459137623193CT663850Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70012550499137623555TC253410BenignEhlers-Danlos_syndrome,_classic_type|not_speci...0.37982.0.419331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70024395249137623601CG433429BenignEhlers-Danlos_syndrome,_classic_type|not_provided..0.708071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70036833579137630015CT663855Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70046784619137658608AG664110Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70056722469137658730TC664115Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70066731299137659000CT663891Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70072550619137659236CT253422Benignnot_specified|not_provided0.02330.027320.030550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70086709789137660194GT663893Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70096709799137660375AG664119Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70106731319137660455TC663897Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70116785189137660532GC663418Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70126833679137664376TG663888Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70136731329137664871GC663914Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70146745549137666528GA664145Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70156698619137667008GT663916Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70161368669137672012CT140569Benignnot_specified|not_provided0.358760.408840.287940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70176696309137672282AG663438Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70186698999137674224CG663442Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70192550629137674488GA253423Benignnot_specified|not_provided0.170380.134940.152960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70206745579137676675CT664176Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70216745609137676745TC663928Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70226833759137677588AC664183Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70232550679137677921CT253428Benignnot_specified0.073730.086410.06090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70246739059137677985CT663450Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70256722479137678038TC663948Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70262550699137686906CT253430Benignnot_specified|not_provided0.659850.611350.691690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70276710019137687038AG663965Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70286722489137687314CT663454Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70296722499137688048TC664185Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70306722759137688427TG663904Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70316696359137689033TTTC663985Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70326735909137689981CT664194Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70336697419137693499GC664002Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70346745629137696713CT663473Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70356745639137697210AG664009Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70366833789137700749TG663910Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70376745649137700943CT664015Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70386833819137701391GA664237Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70396833849137701802AG664017Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70402550789137702059GC253438Benignnot_specified0.238350.143760.24720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70412550819137702200GC253442Benignnot_specified0.48698.0.452880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70422550829137704414GA253443Benignnot_specified0.113790.101890.105030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70431368819137704433GA140584Benignnot_specified|not_provided0.113870.10820.105230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70446833859137706385AG664023Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70456833869137708121GA664255Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70464395269137709780TC433431BenignEhlers-Danlos_syndrome,_classic_type..0.582270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70471369009137711997GC140603BenignEhlers-Danlos_syndrome,_type_7A|not_specified|...0.42519.0.408150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70486833879137712327CG664266Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70496833939137712390TC663949Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70502550899137714027TC253450Benignnot_specified0.667230.565850.609430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70516742759137715450CT663508Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70526722789137716227AG664054Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70532550929137717610TC253454Benignnot_specified|not_provided0.711980.72580.746011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70546722799137717869CT664058Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70556722819137722170GA664291Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70566689519137722311CT664072Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70573657419137734232CT311762BenignEhlers-Danlos_syndrome,_type_7A..0.75141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70583657469137734416CT317325BenignEhlers-Danlos_syndrome,_type_7A..0.349441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70593657609137734882CA307524BenignEhlers-Danlos_syndrome,_type_7A|Ehlers-Danlos_.....0.325281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70603657649137735017TTAGGG307541BenignEhlers-Danlos_syndrome,_type_7A...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70613657689137735232GCTATG311778BenignEhlers-Danlos_syndrome,_type_7A...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70623657699137735274AT317776BenignEhlers-Danlos_syndrome,_type_7A..0.606431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70633657919137736544GT307555BenignEhlers-Danlos_syndrome,_type_7A..0.757391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70643657959137736650TC317385BenignEhlers-Danlos_syndrome,_type_7A..0.576081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70656820789138645716CT664012Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70666820959138656644CT664019Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70676744959138656717GT664034Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70686820999138656783TC664039Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70696821039138656838AG664103Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70702613609138656862GA253461Benignnot_specified0.026470.022620.022360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70712613619138657053TG253462Benignnot_specified0.239580.217580.207870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70726744969138657109AG664104Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70736821059138657171TC664323Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70746821219138657635AG664108Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70756821239138657687GA664046Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70766821269138660237GA664114Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70771293539138662273GA134799BenignSeizures|not_specified0.296680.267970.355430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70781947829138662309AG191945Benignnot_specified0.728080.712630.744210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70796744979138662391GA664137Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70806821229138662465GT663576Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70816821249138662661GA663581Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70826821299138663179AG663607Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70836745149138664522GA664154Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70846821369138664851GA664362Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70856745159138664967CT664109Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70866719679138666829CT664161Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70876719689138666847TC664112Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70886824229138666939TC664163Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70896824259138666972GA664365Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70906824279138667320TC663610Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70916824289138667409AG664169Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70921293579138669261GA134803BenignSeizures|not_specified|not_provided0.634940.66870.652160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70933658289139258462AG311847BenignFamilial_Candidiasis,_Recessive.0.32040.254190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70943658579139266405GA307609Benignnot_specified|Familial_Candidiasis,_Recessive0.374290.402230.366210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70953658589139266496CT317914Benignnot_specified|Familial_Candidiasis,_Recessive0.373060.401950.366610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70964024899139272058AG389800Benignnot_specified0.371130.408810.369410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70974024909139272502TC389882Benignnot_specified0.31558.0.327880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70983658689139323311TC311884BenignJoubert_syndrome..0.365820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70993658739139323424TC317479BenignJoubert_syndrome..0.37760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71003658759139323799AG311894BenignJoubert_syndrome..0.382790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71013658779139324029CT317952Likely_benignJoubert_syndrome..0.148360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71021292729139324737CA134718Benign/Likely_benignJoubert_syndrome|not_specified|not_provided0.216750.204730.173920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71032611979139326253TC253468Benignnot_specified0.245290.00750.267170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71041292669139327034AG134712BenignJoubert_syndrome|not_specified|not_provided0.407210.400430.37780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71056750389139327154CT663631Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71061292659139327439AG134711BenignJoubert_syndrome|not_specified|not_provided0.436010.41940.37840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71072155269139327599GGCGCCCACCCCTCCAGCCA212658Benign/Likely_benignJoubert_syndrome|not_specified|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71086750379139328369TC664130Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71096819669139328722GT663637Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71102612039139333049GCCCTG253479BenignJoubert_syndrome|not_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71116781429139400406CT664218Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71126785649139400904CT664219Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71136785639139401504GA664417Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71146785629139401577CG664220Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71156785599139402663TC664419Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71166785579139402908TC664425Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71176780169139402959AG664432Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71186785569139403102TC664160Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71196781419139403268TC664437Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71206780849139403554TC664167Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71212811089139405261CT265345BenignAortic_valve_disorder|not_specified|Cardiovasc...0.45492.0.585460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71226785549139405361AG663646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71236781409139405501AG664182Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71246778989139407452CT663651Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71256781339139408756AG663652Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71266785499139408892CT664191Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71273837809139410424AG372816Benignnot_specified0.87330.870410.883991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71286785479139410589AG664256Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71296785439139440390AG663684Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71303659019139567687GA317995BenignCongenital_generalized_lipodystrophy..0.334071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71313659039139567692CT318011Uncertain_significanceCongenital_generalized_lipodystrophy..0.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71323659049139567762GC307661BenignCongenital_generalized_lipodystrophy..0.803321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71333659139139568047GA311915BenignCongenital_generalized_lipodystrophy..0.800521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71341295749139981627AG135020BenignHistory_of_neurodevelopmental_disorder|not_spe...0.914160.975880.905351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71351295739140001978CA135019BenignHistory_of_neurodevelopmental_disorder|not_spe...0.278790.28380.178320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71361295779140002989TC135023BenignHistory_of_neurodevelopmental_disorder|not_spe...0.81916.0.80990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71373880199140040364GA370291Benign/Likely_benignnot_specified|not_provided0.000540.002370.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71386834029140040617GC664484Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71391291799140055876GA134625Benignnot_specified|not_provided0.946810.935580.933511|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71406816259140056070TC664281Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71412812149140128085TC265451BenignAutosomal_recessive_hypophosphatemic_bone_dise...0.413660.444490.455670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71421942779140130606AT191440Benignnot_specified0.886920.883080.946091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71431942769140130882AC191439Benignnot_specified|not_provided0.3774.0.329070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7144657249140638461TC76632BenignKleefstra_syndrome_1|History_of_neurodevelopme...0.503840.396960.468850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7145961429140652476GT102036BenignKleefstra_syndrome_1|not_specified0.15970.062240.136980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71468025559140777306CG790882BenignNEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71477717379140917904GC700932Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7148300213106052841CA321772Likely_benignInterleukin_2_receptor,_alpha,_deficiency_of..0.05990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7149300224106053374AG322463BenignInterleukin_2_receptor,_alpha,_deficiency_of..0.354831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7150300234106053866CT322478Likely_benignInterleukin_2_receptor,_alpha,_deficiency_of..0.090260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7151300256106063508GA321833BenignInterleukin_2_receptor,_alpha,_deficiency_of0.039980.060140.06030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7152300258106066195TA322504BenignInterleukin_2_receptor,_alpha,_deficiency_of0.296860.360750.320291|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7153300259106066200CG321841BenignInterleukin_2_receptor,_alpha,_deficiency_of|n...0.175380.212610.179310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7154301109108097368GA322770BenignBarakat_syndrome..0.490221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7155301133108116241GGA322826Uncertain_significanceBarakat_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7156301140108116598GA323466BenignBarakat_syndrome..0.865021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71572992071013142251GA314580BenignPrimary_open_angle_glaucoma|Amyotrophic_Latera.....0.173120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7158960221013151224GA101916BenignPrimary_open_angle_glaucoma|not_specified|Amyo...0.20129.0.178320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71591978461013158262CT195007BenignPrimary_open_angle_glaucoma|not_specified|Amyo...0.818930.815560.803911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71608025621013166076AG790945BenignPrimary_open_angle_glaucoma...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71613688951013180287TG353124BenignPrimary_open_angle_glaucoma|Amyotrophic_Latera.....0.179110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71622992391013320111GTG309744BenignPhytanic_acid_storage_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71632992401013320236CT309747BenignPhytanic_acid_storage_disease0.28625.0.236420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7164953491013330402TC101248BenignPhytanic_acid_storage_disease|not_specified|no...0.299940.239430.239020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71651298911013337588GA135337BenignPhytanic_acid_storage_disease|not_specified|no...0.965930.990780.972441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
716675821013340236GA22621Benign/Likely_benignPhytanic_acid_storage_disease|not_specified|no....0.150380.097641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71672993051014950164CTTC309805Uncertain_significanceHistiocytic_medullary_reticulosis...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7168359991014976727GC44663Benign/Likely_benignSevere_combined_immunodeficiency_disease|Sever...0.091190.090540.116810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71692993731016882518TC321422BenignMegaloblastic_anemia|not_provided0.714820.716970.635980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71702993881016918997TC321438Likely_benignMegaloblastic_anemia0.138470.107530.117010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71712993891016919052TC320825Benign/Likely_benignMegaloblastic_anemia|Megaloblastic_anemia_due_...0.079730.091120.06290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71724395781016930279AT433470BenignMegaloblastic_anemia_due_to_inborn_errors_of_m.....0.771371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71732994091016943371GC321443BenignMegaloblastic_anemia|not_provided0.999920.9999811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71742994371016967401CT309899BenignMegaloblastic_anemia|not_provided0.999620.995810.993411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71752994381016967586CG309900Likely_benignMegaloblastic_anemia0.124710.130690.134590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71762994441016975078GA314859BenignMegaloblastic_anemia0.171380.206480.196890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71772994531016979661TC320918BenignMegaloblastic_anemia|not_specified0.510840.462530.541330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71782994621016982244GT309928BenignMegaloblastic_anemia0.170080.20030.230430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71792994791017024503GA309938BenignMegaloblastic_anemia|not_provided0.748730.772890.613420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71802994801017024615AT314919BenignMegaloblastic_anemia|not_provided0.748810.773210.613820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71814395761017110474CT433468BenignMegaloblastic_anemia_due_to_inborn_errors_of_m.....0.914541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71822994981017110595GA320977BenignMegaloblastic_anemia0.84830.856790.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71832994991017110598TG320980Benign/Likely_benignMegaloblastic_anemia|Megaloblastic_anemia_due_...0.017150.024910.029951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71842995271017147521GT321564BenignMegaloblastic_anemia0.58757.0.534340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71852995331017152994GA309965BenignMegaloblastic_anemia|not_provided0.197060.210050.214861|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71862995381017156151AG321032BenignMegaloblastic_anemia|Megaloblastic_anemia_due_...0.698450.727830.799321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71877683501017659131CA701276Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71886743671018429407CA664690Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71893688971018629603GA353126Likely_benignBrugada_syndrome..0.428120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71906718281018690668AG664956Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71912632621018789724TG253715BenignBrugada_syndrome_4|not_specified0.32562.0.229830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71926732671018790142GT664093Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71936718301018807057GA664098Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71946832871018826813TC664673Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71956832981018827828CT664710Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71966832991018827886AC664712Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71971366491018828635TG140352Benign/Likely_benignBrugada_syndrome|not_specified|Cardiovascular_...0.15159.0.097040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71982155491018828663GT212763Benign/Likely_benignBrugada_syndrome|Brugada_syndrome_4|not_specified.0.788140.774361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71992995761018828721CCAA321622Likely_benignBrugada_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72002995841018829113GGCTGA321638Likely_benignBrugada_syndrome...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72012996111018829981AATGTT310034Likely_benignBrugada_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72022996161018830318TC321665Likely_benignBrugada_syndrome..0.05970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72032996181018830618CT321097Likely_benignBrugada_syndrome..0.405551|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72042996201018830669TC321105Likely_benignBrugada_syndrome..0.760181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72057693621019425531AG701281Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72066781091021075084GC664682Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72076714401021076100CA664714Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72086836771021097159AT664122Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72096729141021097769AG664689Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72106836761021101423TC664693Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72116836731021103274CA664993Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72126711741021104694AT664700Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72136728831021108247CT664995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72146713241021108706TC664718Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72156738491021111924AG665002Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72166711721021115332TC665003Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7217454841021120116AG54650Benignnot_specified0.430190.389310.469051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72186713231021129588TC665022Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7219454751021134282CG54641Benignnot_specified|Cardiovascular_phenotype0.06098.0.038540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7220454721021139389TC54638Benignnot_specified|Cardiovascular_phenotype0.061130.065040.038740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7221454711021141469TC54637Benignnot_specified|Cardiovascular_phenotype0.99277.0.952481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72226836621021141852CG664726Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72236785391021147520TC664732Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72246696381021147611AC664737Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72256836711021149015CG665031Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72266728811021157492TC664151Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72276711531021176945GA665050Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7228454951021177143GGA54661BenignPrimary_dilated_cardiomyopathy|Cardiomyopathy|......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72296786101021178530AG665054Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72306728801021178574GA664156Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72316836601021179160AT664747Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72326728791021185821AC664159Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72336836701021186738GA665064Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72346836691021186862GA664752Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72356743461021461232GA665068Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72361647751021461410GGA174922not_providednot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72374441381023466734GA437762BenignDiabetes_mellitus_type_2..0.450281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72384441431023478779TG437764BenignDiabetes_mellitus_type_2..0.211460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72391300551023482635TC135501BenignPermanent_neonatal_diabetes_mellitus|not_speci...0.51076.0.62441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72402996281023482850GA321688BenignPermanent_neonatal_diabetes_mellitus0.058590.127660.212860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72414441451023544272TC437766BenignDiabetes_mellitus_type_2..0.694691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72424441441023572382AC437768BenignDiabetes_mellitus_type_2..0.718250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72434441411023579424GA437769BenignDiabetes_mellitus_type_2..0.18750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72446827221026240944CT664166Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7245457911026241025TA54956Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.0940.056970.074080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72461646041026286066TTAT174648Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7247458171026286159GT54982Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.10963.0.091450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7248458231026355906GA54988Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.488390.484970.393570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7249457921026355992AG54957Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.682530.678590.662741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72502608101026357747CGCA,TA253719Benignnot_specified...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
7251457981026357820CT54963Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.488010.484390.396370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7252458011026385578GA54966Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.105850.088350.057310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7253458041026446312GA54969Benign/Likely_benignDeafness,_autosomal_recessive_30|not_specified...0.521070.50640.455270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7254458071026457637TC54972Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.136250.097080.087661|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7255458111026463130CA54976Benign/Likely_benignDeafness,_autosomal_recessive_30|not_specified...0.562740.598680.601040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72562608111026465792TC253720Benignnot_specified0.105950.087450.057510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72576695381026986932TC664761Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72586695391026987060GC665072Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72596715821026990849TG664177Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72606834401026993390TA665074Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72616715831026993955CA664184Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72626715841026993961GA665086Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72636834421026994650AG664770Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72646715851026998358CT664187Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72656834491027024710GA664203Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72666834501027031214AG665099Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72672997041027035478CT315186Likely_benignCoenzyme_Q10_deficiency,_primary..0.089860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72682604611027326999TC253730Benignnot_specified0.828870.840810.865221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72692604721027389197TC253739Benign/Likely_benignThrombocytopenia|not_specified0.893460.897740.944691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72702997851027444303GA315284Likely_benignThrombocytopenia..0.397171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72712621111027444344TG253744Benign/Likely_benignThrombocytopenia|not_specified0.84066.0.855231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72722621261027454111AT253749Benign/Likely_benignThrombocytopenia|not_specified0.617480.59240.504791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72732621271027456003GA253750Benignnot_specified0.993160.997910.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72742621151027459670CT253752Benign/Likely_benignThrombocytopenia|not_specified0.616250.591080.504591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72752621221027475444TC253758Benign/Likely_benignThrombocytopenia|not_specified0.625480.59710.510981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72762621101027475494TC253759Benign/Likely_benignThrombocytopenia|not_specified0.500920.558780.399961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72772998061027475693TC310197Likely_benignThrombocytopenia..0.509581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72786686061027815665AG665104Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72796840311027826517CT664789Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72802998791027830783GGT315390BenignWarburg_micro_syndrome.0.765050.736221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72812609941028228865AG253760Benignnot_specified0.508070.536350.533150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72827182551028971169GA723906Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72836717821030605410GA664228Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72846840831030611774TG664771Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72856832231030615190CT664796Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72861382811030629136GA141984BenignAtaxia,_spastic,_4,_autosomal_recessive|not_sp...0.269180.260180.225640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72871296241030629226GA135070BenignAtaxia,_spastic,_4,_autosomal_recessive|not_sp...0.262260.249990.218450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72886832221030629549GT664243Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72896842661030638597CA664245Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72907718841043315692CT701339Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72913688981043572507AG353127BenignPheochromocytoma|Multiple_endocrine_neoplasia|.....0.736820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72923784781043581980CT371670Benignnot_specified..0.745210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7293139521043582056TC28991Benign,_risk_factorHirschsprung_disease|Hirschsprung_disease_1|no.....0.757390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72946951951043582273AC685271Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72956770501043595781GT664781Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72961675891043595968AG174942Benignnot_specified|not_provided.0.736530.753590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72976770511043600864AT664254Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7298959951043606687AG101890BenignPheochromocytoma|Multiple_endocrine_neoplasia|...0.748580.706070.775160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72996770531043611865TC665137Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73002613961043612226CT253767Benignnot_specified0.203690.214450.120610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73011675901043613843GT175112Benignnot_specified|not_provided0.802630.741910.712460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73021650561043622217TC174666Benignnot_specified0.853330.80310.754990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73032999341043625223GA315412BenignPheochromocytoma|Multiple_endocrine_neoplasia|.....0.74720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73047683561047087078GT701353Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73057683571047087474CT701352Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73067683591047087501CT701350Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73077683601047087680CT701349Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73087683611047087731CT701348Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73097683621047087830GA701347Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73106746971048414570AG664801Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73113000291050666628CCA322302Uncertain_significanceMacular_degeneration|Cockayne_syndrome|Cerebro......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73121290201050667105TC134466BenignMacular_degeneration|Cockayne_syndrome|not_spe...0.189140.217840.178911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73131290171050678369TC134463BenignMacular_degeneration|Cockayne_syndrome|not_spe...0.196680.220330.18471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73141290161050678717TC134462BenignMacular_degeneration|Cockayne_syndrome|not_spe...0.190910.218560.182511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73152551631050691360TC253773Benignnot_specified0.84930.907110.887581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73161901531050701156GA188007BenignMacular_degeneration|Cockayne_syndrome|not_spe...0.83223.0.8771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73177883611050724408GA712389Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73181290141050740876GC134460BenignMacular_degeneration|Cockayne_syndrome|not_spe...0.627560.694640.590861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73198025721050820345CA790963BenignFamilial_infantile_myasthenia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73202613251050822192GC253774Benignnot_specified.0.744570.44091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73211934331050822226TG190597Benignnot_specified|not_provided.0.992180.971851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73222613371050828506GA253779Benign/Likely_benignnot_specified|not_provided0.971940.986090.966251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73236680721050829828AG664295Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73246789341050835967CA664296Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73251991571050856652GA196316BenignFamilial_infantile_myasthenia|not_specified0.961020.989620.966451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73266783511050857849CT665158Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73276783521050857890TC664303Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73286680731050859629TG664848Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73296812971050860229CG665163Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73306680741050860383TC664855Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73311287191050863147TC134168Benignnot_specified|not_provided0.83984.0.793530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73326783551050863565CT664304Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73336791231050863623AG664859Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73346800991050870500GA664865Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73352208011052913020GA221980BenignAortic_aneurysm,_familial_thoracic_8|not_speci...0.016610.016810.008590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73366747111053667443CT664809Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73376747121053667476GA664811Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73386837151053667586CA664314Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73396837171053813948AG664335Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73406837201053813953AC664339Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73413811951053814229GT371297Benignnot_specified0.315320.348250.269171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73426747381053814383CT664341Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73436837401053893305CA664882Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73446780861053893888GA664356Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73456779891054011665AG664367Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73466747151054031443TC664840Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73476837231054048234GA664849Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73486747281054050079GA664852Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73493001091054525509AC321599Likely_benignMannose-binding_protein_deficiency..0.338860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73503001101054525678TG321600Likely_benignMannose-binding_protein_deficiency..0.339060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73513001131054525849TC315587Likely_benignMannose-binding_protein_deficiency..0.338660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73523001141054525857CA321603Likely_benignMannose-binding_protein_deficiency..0.273160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73533001241054526206CT322359Likely_benignMannose-binding_protein_deficiency..0.451881|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73543001311054526622AG322365Likely_benignMannose-binding_protein_deficiency..0.276960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73553001481054528266GC315631Benign/Likely_benignMannose-binding_protein_deficiency|not_specified0.770610.804140.738821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73563689001054531461GA353129Likely_benignMannose-binding_protein_deficiency..0.283350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73572278371055566671GA229796Conflicting_interpretations_of_pathogenicitynot_specified|not_provided0.001460.00070.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7358440351055568972TG53203Benignnot_specified0.148640.248870.298120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73596704091055587034AG664381Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73606788661055588137GA665210Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73616704081055588484GT664861Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73626703921055588495AG664897Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73636788671055590850GA664864Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7364464761055591313GA55641Benignnot_specified0.352660.433090.44030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73656788621055617177TC664904Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7366464681055626630GGA55633Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73676788631055626750GA664916Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73686743901055663198AC664867Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73696743891055663202TC664869Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73706788611055700973TC664920Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73716788601055700979TG664872Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73726679561055701068TC664925Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73732621491055719652CT253789Benignnot_specified|not_provided0.679070.736260.734031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73746788591055721761AG664874Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73756788571055721844GGT664876Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73766788561055755237CT664926Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7377464561055755491CT55621Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.211130.256230.31530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73786788551055779760CA664397Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73792621471055779915GA253791Benignnot_specified|not_provided0.599420.636730.460260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73806788541055783146AT664895Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73816788531055838950AG665213Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73826788491055942965AG664944Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73832621451055943184TC253792Benignnot_specified|not_provided0.78533.0.608031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73846703891055973589CT665224Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73856703881055973889GA664906Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73866679531055974067TA664917Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73876788421055996408AT664922Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73886703871055996761CT665225Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73896754731055996785GA664945Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73906739031056076760TC664924Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7391465111056077209GA55676Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.74020.660440.603830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73926679361056089068GC664931Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73936788451056089131AG664935Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73946788441056089166CT664954Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73956788431056089223AG664937Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73966679351056089718CT664958Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73976679341056129286CA665228Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73986841771060145079AG656003Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73996841791060145597GC664961Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74006841871060147784GA664966Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74016841891060148692AG664420Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74027732351060573675GA701383Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74038025771061956386GGA790968BenignMental_retardation,_autosomal_recessive_37...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74041283621061965625AG133811Likely_benignnot_specified0.181760.159610.151560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74052857661064573771CT270003Benignnot_specified|not_provided0.982160.995290.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74066800311064575410GT664947Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74076705061064576317GC664430Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74084602221065225244GACG460152Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74092408641068139039GA240825BenignArrhythmogenic_right_ventricular_dysplasia,_fa...0.011530.011830.004990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74105167421069366602TC502840Benignnot_specified0.456170.381080.529950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74116730491069902549TC664442Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74126836531069909513CT664998Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74136786191069909562CT664977Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74146836541069917921CT665257Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74156836551069917925TC664986Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74166711431069918602AG664988Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74176785371069921733TA664456Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74186728321069925789CT665259Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7419317951069926097TC40455Benignnot_specified|Cardiovascular_phenotype|not_pro...0.578660.622670.482631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7420318031069926319CA40463Benignnot_specified|Cardiovascular_phenotype|not_pro...0.12610.156490.116611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7421317961069926325CT40456Benignnot_specified|Cardiovascular_phenotype|not_pro...0.172310.180910.157751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74226836561069926687GA665007Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74231384191069935235TC142122BenignDilated_cardiomyopathy_1KK|not_specified0.982160.993850.982431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74246698661069948326TC665028Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7425317991069948844TC40459Benignnot_specified|not_provided0.985470.995580.984631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74266730511069949057TG665035Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74276728381069953929AG665042Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74286728391069953942GA665270Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74296715061069954301CT665278Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74306728691069954451AG664468Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74316711471069955140TA664470Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74326689931069956848TC665288Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74336711501069957375CT664481Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74346689951069957554CT665046Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74356728711069958975GT665047Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74366711511069959097GT665052Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74376780151069959567CA664490Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74386689961069959624AG665049Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74396836581069961270CT665067Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74406728751069961405AG665306Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74416728761069961408CT665070Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74426728771069961470AG664500Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74436711521069961501AG665056Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74446690111069962062TC665059Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74456698841069966251GA665310Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74466728781069966392TG665315Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74476697251070190695TG665088Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74482573421070191631CT253799Benignnot_specified|not_provided0.038440.04240.021171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74496697231070196580TC665323Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74506697201070197186TA665093Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74516697191070204373TC665100Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74526697161070205152GA665089Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74536837421070206390TC665094Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74546697131070209582ATCGCTTGAACCCGAGAGA665103Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74552573461070225504GT253801Benignnot_specified|not_provided0.275820.286750.366410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74562573451070227964CT253802Benignnot_specified|not_provided0.070070.131140.139180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74576698811070228249TC665108Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74586698631070231333CG664520Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74596762501070231412GA665107Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
746017191070641860TC16758risk_factorPreeclampsia/eclampsia_4.0.623140.612420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
746117201070645376AC16759Conflicting_interpretations_of_pathogenicityPreeclampsia/eclampsia_4.0.212210.144170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74626828161070765250GA665132Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74636719321070775001TC664521Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74646828181070775081TC665114Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74654397871071103597CG433604Benignnot_specified0.376210.323760.283350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74662554831071142420GA253803Benignnot_specified0.820080.783160.778751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74671297651071332204AG135211Benignnot_specified0.587750.585980.429911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7468958821072195439TC101779BenignHoloprosencephaly_sequence|Heterotaxia|Viscera...0.53860.617150.665740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74693003241072357713CT315856BenignFamilial_hemophagocytic_lymphohistiocytosis..0.577880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74703003251072357720GA310615Likely_benignFamilial_hemophagocytic_lymphohistiocytosis..0.097440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74712574091072358577GA253807BenignFamilial_hemophagocytic_lymphohistiocytosis|He...0.662390.635650.695891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74722574081072358655GA253808Benign/Likely_benignFamilial_hemophagocytic_lymphohistiocytosis|no...0.147850.158210.112620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74736914021072536936AG679096Uncertain_significanceHirschsprung_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74743003451072643671CT322610BenignBH4-Deficient_Hyperphenylalaninemia0.728310.776820.765381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74753003501072648336CT322615Likely_benignBH4-Deficient_Hyperphenylalaninemia.10.1240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74763003541072648422GT322628BenignBH4-Deficient_Hyperphenylalaninemia..0.380990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74771303421073082563AG135789BenignHistiocytosis-lymphadenopathy_plus_syndrome|no...0.487390.424660.469250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74781303401073104056AG135787BenignHistiocytosis-lymphadenopathy_plus_syndrome|no...0.879440.867380.81431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74791303411073111408CT135788Benign,_drug_responseHistiocytosis-lymphadenopathy_plus_syndrome|no...0.618250.638430.479831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74803003631073115941TGCA321945Conflicting_interpretations_of_pathogenicityHistiocytosis-lymphadenopathy_plus_syndrome|no......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74811303471073121913AG135794BenignHistiocytosis-lymphadenopathy_plus_syndrome|no...0.892280.824620.792731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74821303371073121945TC135784BenignHistiocytosis-lymphadenopathy_plus_syndrome|no...0.86660.830180.753791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74833003941073157033CCCGAGG322651Conflicting_interpretations_of_pathogenicityRetinitis_pigmentosa-deafness_syndrome|not_spe......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74846804981073199333AG665120Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74856703201073199501CA664523Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74866787631073206287CT665125Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74876787651073269714TC665126Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7488459281073270906TC55093Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.74960.672070.734631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7489459401073270982GA55105Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.739650.66910.725241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74902615481073270995AG253816Benignnot_specified|not_provided0.74355.0.731231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74916804991073337417TC665128Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74926703221073377314CG665343Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7493458721073434888GC55037Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.121190.19980.18531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74946805001073436872TA664529Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74956787671073437020AG665130Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74966787681073437560TC665143Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74972615431073439101TC253817Benignnot_specified|not_provided0.928420.96240.915141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74986787821073447555CT665371Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74996787691073454151CT665145Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75006787701073454256TC665150Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75017609501073454444AC775660Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75027609641073454483AG775543Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75036787711073454935CG665140Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75046787721073465033CT665141Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7505459371073492079AG55102Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.81290.815930.782150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75066703261073494159TA665149Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75076787731073494229TC665156Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75086703271073498644AG665376Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75096805051073499068TC664534Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75106805061073499827GA665167Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75116787831073500861CT665151Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75126787841073501374CT664538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7513459551073501556GA55120Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.741080.775250.728830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75148025861073520632AC790978BenignRetinitis_pigmentosa-deafness_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75158025871073533177AG790979BenignRetinitis_pigmentosa-deafness_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7516459601073537614GA55125Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.140970.178890.132190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75176805071073548388GA665195Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7518459971073550117CG55162Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.414430.429140.345250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7519460581073569749CT55223Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.1160.114140.080870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7520460711073571521GA55236Benign/Likely_benignGalactosylceramide_beta-galactosidase_deficien...0.110880.150870.078870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75213004891073575384AG316044Benign/Likely_benignGalactosylceramide_beta-galactosidase_deficien.....0.789340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75226807241073583520GC665157Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75236807231073583948TGT665390Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75246807211073591149TC665400Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75256807201073593913AG665160Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75266807191073594499GA665405Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75273005481073724266CG322169BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.56131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75283005811073768992CA310830BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.609630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75293006051073769543GA322808BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.202080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75303006201073770073CT322831BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.576480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75313006221073770128GA322239Likely_benignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.088260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75323006301073770578AG310887BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.575480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75333006321073770651TC310890BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.591650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75343006411073771282CT322245BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.240620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75353006601073772161GT322890BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.610020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75363006611073772216GA316200BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.240220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75373006701073772650GC322267BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.240220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75383006711073772661TA322892BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.591650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75396675001074168136AG665202Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75406674991074235232TG665416Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75415591821074268031TC549971Benignnot_provided0.519040.579810.297921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75426674961074284025CT665220Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75436674951074310651GA665221Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75443007521075673731CT322380BenignQuebec_platelet_disorder0.539670.456470.361020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75453007651075676464CT322983BenignQuebec_platelet_disorder..0.371610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75463007761075677166TGT316340BenignQuebec_platelet_disorder..0.366610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75476840571075757580AG664574Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75486712871075842152GA664587Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75496694181075842799AAT665185Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75504984571075843100TA489881Benignnot_specified|not_provided0.63655.0.780750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75516780441075853796CT664592Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75526780311075855842CT664605Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75536712311075863750CT665436Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7554455951075865065GA54761Benign/Likely_benignHirschsprung_disease|not_specified|Cardiovascu...0.438720.476120.324680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75556726961075866929CA664611Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75566726971075869065TC665218Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7557456001075871735CG54766Benign/Likely_benignDilated_cardiomyopathy_1W|not_specified|Cardio...0.762420.673390.6230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75586726981075873892CT665241Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75593008081075878915CCTA316355Likely_benignDilated_Cardiomyopathy,_Dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75603008151075879511TA323069Likely_benignDilated_Cardiomyopathy,_Dominant..0.62540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75613008351075936611CT311044BenignHypermethioninemia0.77360.681220.630190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75628025881076349020CTC790980BenignHypermethioninemia_due_to_adenosine_kinase_def......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75633008471076468851CT316390BenignHypermethioninemia..0.850040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75645615791076603482CT552622Benignnot_provided..0.446490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75655615771076719679CA552623Benignnot_provided0.349320.274220.473840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75665615801076720040TC552624Benignnot_provided..0.12720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75675615811076720081CT552625Benignnot_provided..0.18850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75685615781076729632CT552626Benignnot_provided..0.474040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75693009271078645067GA322540Likely_benignGeneralized_epilepsy_and_paroxysmal_dyskinesia..0.714661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75703009331078645453GA316458Likely_benignGeneralized_epilepsy_and_paroxysmal_dyskinesia..0.380590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75711293281078944590GA134774Benign/Likely_benignGeneralized_epilepsy_and_paroxysmal_dyskinesia...0.449330.360480.405950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75727868261079588706GA712480Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75732270691081317292GA229922Benign/Likely_benignnot_specified|not_provided.0.286650.348841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75741651971081372081AG175023Benignnot_specified0.161720.200020.220850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75751652151081701722TC175027Benignnot_specified0.716050.66350.770370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75761652181081706281AG175307Benignnot_specified0.050590.045390.024360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75771652191081706324AG175029Benignnot_specified0.413580.470040.504590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75783011531082031937CCCCAGCCTGAA322697BenignHepatic_methionine_adenosyltransferase_deficiency...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75793011591082032445GC316692Likely_benignHepatic_methionine_adenosyltransferase_deficiency..0.028951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75803011651082032555TA316710BenignHepatic_methionine_adenosyltransferase_deficiency..0.120010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75812561041082033594GA253866BenignHepatic_methionine_adenosyltransferase_deficie...0.537910.512360.586861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75822561031082034262GA253867BenignHepatic_methionine_adenosyltransferase_deficie...0.537980.512530.588061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75832561071082034842AG253869BenignHepatic_methionine_adenosyltransferase_deficie...0.707030.744120.840461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75842561061082034854TC253870BenignHepatic_methionine_adenosyltransferase_deficie...0.709340.750440.840861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75852561051082040052AG253871BenignHepatic_methionine_adenosyltransferase_deficie...0.748420.75430.863421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75862561081082045354GC253872BenignHepatic_methionine_adenosyltransferase_deficie...0.247270.14670.19091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75873011991082049251TTTTTTTC,TTTCTTC311293BenignHepatic_methionine_adenosyltransferase_deficiency...1|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
75886914061083637775CG679097Uncertain_significanceHirschsprung_disease...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75896914081084745256CT679099Uncertain_significanceHirschsprung_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75902622151085960395AG253878Benignnot_specified|Cone-Rod_Dystrophy,_Recessive|no...0.524910.494720.515970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75912622101085972043AG253884Benignnot_specified|Cone-Rod_Dystrophy,_Recessive|no...0.418350.355730.429111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75921947941085974236TC191957Benignnot_specified|Cone-Rod_Dystrophy,_Recessive|no...0.60488.0.573681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75931947951085974381AG191958Benignnot_specified|Cone-Rod_Dystrophy,_Recessive0.680530.586710.62741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75943012781085975246TG316942BenignCone-Rod_Dystrophy,_Recessive..0.571691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75953012811085975284GA316962Likely_benignCone-Rod_Dystrophy,_Recessive..0.098040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75963013121085976965AC311434BenignCone-Rod_Dystrophy,_Recessive..0.556511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75973013141085977020AT323570BenignCone-Rod_Dystrophy,_Recessive..0.256591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75982857541086004873TC269991Benignnot_specified|Retinitis_Pigmentosa,_Recessive0.620560.531180.633590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75991971741086012713CT194335Benignnot_specified|Retinitis_Pigmentosa,_Recessive0.50515.0.503190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76003013241086018493CCA323008Likely_benignRetinitis_Pigmentosa,_Recessive..0.116010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76013013271086018811AG317026Likely_benignRetinitis_Pigmentosa,_Recessive..0.116210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76026830051088428076AT664616Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76036711231088428158TC664626Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76041381061088428335TC141809Benign/Likely_benignLeft_ventricular_noncompaction_cardiomyopathy|.....0.75221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76056725181088439005GA665227Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76066720141088440996CG665235Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76072573371088445385GC253888Benignnot_specified|not_provided0.710220.687510.62421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76086836101088445741CT664648Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76096720331088446633AT665240Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7610438811088458996TTCT53050Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76113013471088516595TC323644BenignJuvenile_Polyposis..0.348240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7612417821088635779CA50221BenignHereditary_cancer-predisposing_syndrome|not_sp...0.389510.355820.49980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76132592861088683122TC253896BenignHereditary_cancer-predisposing_syndrome|not_sp...0.389820.353760.496610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76144353391088817578GAG429134Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76151291641088820789TC134610Benign/Likely_benignHyperinsulinism-hyperammonemia_syndrome|not_sp...0.069430.122060.167730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76168108881089623716GA799618Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76174402171089623901GC433880Benignnot_specified..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76184402191089653686AG433072Benignnot_specified..0.417930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7619928101089720907TG98717BenignPTEN_hamartoma_tumor_syndrome|not_specified0.378640.369910.432510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76203014631089726745TC323162BenignPTEN_hamartoma_tumor_syndrome..0.37340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76216745761090695243GA665309Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76226805181090695411TC665553Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76236745741090703465CT665311Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76246805171090707397AG665314Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76252547341090771829TC253905BenignAutoimmune_lymphoproliferative_syndrome|not_sp...0.695220.756130.775361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76266842751090975117CG665316Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76276720001090982081AG665559Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76282556111090983629CT253907Benignnot_specified|not_provided0.302710.399280.454271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76296720511090984787TG665317Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76302556101090984990GA253908Benignnot_specified|Wolman_disease|not_provided0.165.0.318891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76316842731090987007TC665329Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76326842691091005854CT665330Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76331950491091007360TG192211BenignLysosomal_acid_lipase_deficiency|not_specified...0.240970.316320.286141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76346842681091007470CA665561Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76353016031092672564TC323274Likely_benignDilated_Cardiomyopathy,_Dominant..0.354230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76366831011092679630GC664729Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76373016131092680929AG323878Benign/Likely_benignDilated_Cardiomyopathy,_Dominant|not_provided..0.662340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76382594111094366898AG253910Benignnot_specified0.144470.06330.154950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76392594081094392459AT253911Benignnot_specified0.1590.085080.178120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76402112731094409586TA207803Benignnot_specified|not_provided0.004770.004660.00240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76417784691094834568CG701479Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7642953461095372734GA101245Benign/Likely_benignAchromatopsia|not_specified|Cone-Rod_Dystrophy...0.19453.0.164340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76432599381095389041GA253917BenignAchromatopsia|not_specified|Cone-Rod_Dystrophy...0.366290.349620.395770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76442599391095389083AG253918Benignnot_specified0.368450.351570.396170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76452599401095395247AG253920BenignAchromatopsia|not_specified|Cone-Rod_Dystrophy...0.737510.739670.728830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76462599421095395364CG253921Benign/Likely_benignAchromatopsia|not_specified|Cone-Rod_Dystrophy...0.22913.0.235220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76472599431095405814CA253922BenignAchromatopsia|not_specified|Cone-Rod_Dystrophy...0.423420.460450.413340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76486830301095537587CT665569Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76496840551095549595CA665347Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76506830311095549671AG665570Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76513016621095557775TC311731Likely_benignFamilial_temporal_lobe_epilepsy_1..0.005190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76523016661095753822AG323939BenignNephrotic_syndrome..0.552520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76533016761095790669GA323351BenignNephrotic_syndrome..0.367010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76542607331095791613TC253928BenignNephrotic_syndrome|Nephrotic_syndrome,_type_3|...0.396540.31970.460460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76552607341095791763GA253929BenignNephrotic_syndrome|Nephrotic_syndrome,_type_3|...0.318240.286040.37820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76562607121095931087GT253931BenignNephrotic_syndrome|Nephrotic_syndrome,_type_3|...0.17173.0.201080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76572607221096044734CA253940BenignNephrotic_syndrome|Nephrotic_syndrome,_type_3|...0.271750.343130.230230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76582607291096076495CG253946BenignNephrotic_syndrome|not_specified0.11880.145550.087060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76592259471096405502GA227769drug_responsewarfarin_response_-_Dosage..0.245410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76606662431096535124AG622287..0.161930.186270.228440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7661168971096541616GA31936drug_responseMephenytoin,_poor_metabolism_of|Proguanil,_poo...0.154130.185630.221450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76623017461097365820GA324029BenignCutis_laxa,_recessive..0.200480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76633017491097366107AG324059BenignCutis_laxa,_recessive..0.200080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76643017531097366364CT324060BenignCutis_laxa,_recessive..0.297920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76656784461097366746CT664731Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76662588251097369939CT253949BenignCutis_laxa-corneal_clouding-oligophrenia_syndr...0.393280.410830.279550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76676830441097370331TG665352Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76686784441097370989TA665341Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76696830431097373193GGA665576Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76706830381097373200TA665588Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76716784431097373966AC665593Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76726830371097385492GA665606Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76736838181097388579CT664744Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76746830361097393678GA665355Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76752588261097397227TC253953Benignnot_specified|not_provided0.666690.686160.642571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76766827571097397486GA665616Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76776702291097440572GC665618Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76786749601097442995AG665375Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76796702281097444603CT665628Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76806749591097446206GA664757Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76811305771097447373AT136023Benignnot_specified0.351760.35440.424720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76822606691097447487TA253956Benignnot_specified0.196990.162910.195290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76834024271097990583AG390501Benignnot_specified0.5582.0.461261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76842042591099359406CT200664Uncertain_significancePrimary_hyperoxaluria,_type_III0.092890.083880.072680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76853018271099498234GA323498BenignSpastic_paraplegia,_autosomal_dominant|not_pro...0.52230.530420.43691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76861307871099504630GT136233Benignnot_specified|Spastic_paraplegia,_autosomal_do...0.763840.732380.696491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76873018411099519097AG317478BenignSpastic_paraplegia,_autosomal_dominant0.759030.730460.679711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76883018461099519305TC324172BenignSpastic_paraplegia,_autosomal_dominant..0.742011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76893018471099519424GA317487BenignSpastic_paraplegia,_autosomal_dominant..0.734231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76903018501099519753GA311862BenignSpastic_paraplegia,_autosomal_dominant..0.678911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769129830910100176104AGGGGA317492Uncertain_significanceHermansky-Pudlak_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769229831110100176154CT317495BenignHermansky-Pudlak_syndrome..0.430910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769329831410100176339AG323522BenignHermansky-Pudlak_syndrome..0.572280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769429831510100176366TC323544BenignHermansky-Pudlak_syndrome..0.572280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769529832210100176615GC311898BenignHermansky-Pudlak_syndrome..0.590450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769629832910100176869CT317497BenignHermansky-Pudlak_syndrome..0.461460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769729833210100176997AG311903BenignHermansky-Pudlak_syndrome..0.538940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769829833310100177049GA317527BenignHermansky-Pudlak_syndrome..0.526360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769916718410100182285TC175332BenignHermansky-Pudlak_syndrome|not_specified0.205910.269590.257590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770025550010100184062CCAG253962Benign/Likely_benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770116366610100195130GA175056Benign/Likely_benignHermansky-Pudlak_syndrome|not_specified0.043670.063350.06390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770280262610100219374TA791020BenignUrofacial_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770371362010101163636GA730720Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770429837510101469605GA323571BenignHepatic_failure,_early-onset,_and_neurologic_d.....0.826280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770529837710101469903TG311921Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.106431|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770629838510101470858CCA317617BenignHepatic_failure,_early-onset,_and_neurologic_d......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770729838710101470927AG311927Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.12640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770812883610101473218AG134284BenignHepatic_failure,_early-onset,_and_neurologic_d...0.834850.861010.827080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770968343410101473535CT664772Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771029843210101492241GA311989Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.538740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771129843410101492403TG317652Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.540140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771229843710101542578CT323615Benign/Likely_benignDubin-Johnson_syndrome|not_specified0.152160.168680.134980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771380262710101544447AT791021BenignDubin-Johnson_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771419610110101604207CT193262BenignDubin-Johnson_syndrome|not_specified0.33354.0.288140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77159438710102506070GC100287BenignRenal_coloboma_syndrome|not_specified0.77499.0.846650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771613659310102747363GT140296BenignMitochondrial_DNA_depletion_syndrome|not_speci.....0.412140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771768341810102749933GATGGCAG664765Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771829851310102753788CG309222BenignMitochondrial_DNA_depletion_syndrome|Autosomal.....0.057510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77194412910102770082TG53297Benignnot_specified|not_provided.0.812210.772961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77204412610102770293TTGCTGCG53294Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77214412410102770327AG53292Benignnot_specified|not_provided.0.810870.776161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772268385510102770953AC663984Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772367246010102772211AG664489Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772467243310102772256GA663986Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772568385210102772283AC664493Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772666795810102775716GA664540Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772768384210102776398CG663989Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772868267910102777461TC663991Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772968267810102777768CG664544Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773068267710102780312GT664785Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773168383710102780638AC664494Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773266795710102782309AC664793Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77334621110102783678TC55376Benignnot_specified|not_provided0.661460.57770.596050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773419344910103454402AT190613Benign/Likely_benignSplit-hand/foot_malformation|not_specified0.103920.228820.095251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773519640410103991381GA193565Benignnot_specified|not_provided0.663230.646970.664141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773640323210104157727CT389832Benignnot_specified0.922190.964580.922131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773740323310104159196AG389920Benignnot_specified0.991860.99710.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773840323410104160434AG389836Benignnot_specified0.989480.996770.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773967712710104263675TC664497Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774026068910104264107CT253668Benignnot_specified|not_provided0.479550.485670.396170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774167712810104264280CT664499Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774267712910104268877GC664547Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774367713010104269217GA664507Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774467713110104269301GA664511Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774567713210104352124CCCATTT664513Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774667713310104374815GC663998Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774726068810104387019TC253670Benignnot_specified|not_provided0.681150.662750.719650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774829858710104391034CT309286Likely_benignMedulloblastoma..0.194490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774929860710104392580CT319883Likely_benignMedulloblastoma..0.12340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775013706310104592249AC140766Benignnot_specified|not_provided0.220440.223780.138780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775176100010104594906TG775608Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775229862410104596924CA314017BenignCongenital_adrenal_hyperplasia|not_provided0.38329.0.410340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775329862510104596981GA314018BenignCongenital_adrenal_hyperplasia|not_provided0.39490.424780.442490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775429863010104597152AG314022BenignCongenital_adrenal_hyperplasia0.38234.0.410540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775529864510104814162TC319953BenignRenal_Hypomagnesemia,_Dominant0.390210.419920.432510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775629865110104836940CT314056BenignRenal_Hypomagnesemia,_Dominant0.107790.114580.077080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775729866510104837816GA320488BenignRenal_Hypomagnesemia,_Dominant..0.262780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775838085210104849468GA371502Benignnot_specified0.396820.41710.422130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775966776210104851285GA664522Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776066774410104851396GT664527Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776166774210104852648GA664537Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776266774010104852659AAAACTT664004Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776366773410104855670GA664548Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776466773910104857205GAG664812Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776566773710104857218AC664005Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776666773510104857234CA664818Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776766753810104860053TA664553Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776866753710104866062CT664556Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776938085110104934709TC371505Benignnot_specified0.11010.113810.076680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777038085010104953007CG371524Benignnot_specified..0.819690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777176838610105110740AAGGAGGC701154Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777229867310105791355CT319982BenignEpidermolysis_bullosa,_junctional..0.18850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777329867610105791629CAC320507BenignEpidermolysis_bullosa,_junctional..0.246610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777429867810105791929CG309383BenignEpidermolysis_bullosa,_junctional0.23193.0.228830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777525627410105796399GC253672BenignEpidermolysis_bullosa,_junctional|not_specified0.72290.780440.691491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777625627310105796819AG253673BenignEpidermolysis_bullosa,_junctional|not_specified0.986240.996430.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777725627210105797378GA253674Benignnot_specified0.716360.778090.682911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777825627110105798872TC253675BenignEpidermolysis_bullosa,_junctional|not_specified0.72251.0.681511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777925627010105799216GT253676BenignEpidermolysis_bullosa,_junctional|not_specified0.715130.776870.683511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778025626910105801253GA253677BenignEpidermolysis_bullosa,_junctional|not_specified0.718130.772490.673921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778125626810105805497CT253678Benignnot_specified0.432420.49450.43610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778229871810105810371TG320575Conflicting_interpretations_of_pathogenicityEpidermolysis_bullosa,_junctional|not_provided0.001230.002770.00221/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778325626710105810400TC253679BenignEpidermolysis_bullosa,_junctional|not_specified0.719050.780340.693691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778429872510105815116AG320577Likely_benignEpidermolysis_bullosa,_junctional0.117410.139020.099640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778525626610105816916CT253680BenignEpidermolysis_bullosa,_junctional|not_specified0.848870.935660.818491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778625626310105819956GA253682BenignEpidermolysis_bullosa,_junctional|not_specified0.55520.647320.552521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778725627610105824333GA253683BenignEpidermolysis_bullosa,_junctional|not_specified0.585120.673950.56491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778866761410112327119AG664557Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778967495010112328838CG664832Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779067011010112333272GA664008Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779125977010112337693TA253686Benignnot_specified0.05022.0.141970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779225977110112341636AC253687Benignnot_specified0.096520.149440.148160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779315999210112343591GA168820Benignnot_specified|Cornelia_de_Lange_Syndrome0.097310.148990.148160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779425976510112343923TC253688Benignnot_specified0.098110.148850.148160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779567011210112349204AG664566Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779625976810112356331GA253691Benignnot_specified|not_provided0.972620.979250.957271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779767011310112359740AT664551Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779867011410112360002GA664834Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779925976910112360936AG253692Benignnot_specified0.09756.0.148960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780015998510112361870AG168840BenignHistory_of_neurodevelopmental_disorder|not_spe...0.98985.0.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780167495210112362019GT664567Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78024402910112404302GA53197Benign/Likely_benignCardiomyopathy|not_specified|Cardiovascular_ph....0.152230.222240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780367118210112543217GA664564Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780467305510112543345GA664579Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780567118310112544063AC664030Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78064397510112544655CT53143Benign/Likely_benignnot_specified|Dilated_Cardiomyopathy,_Dominant0.219010.164020.164140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780713890110112572458GC142604Benign/Likely_benignCardiomyopathy|Dilated_cardiomyopathy_1DD|not_.....0.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780867118410112572873TC664589Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780967118510112572930GA664590Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781067203610112579663CT664860Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781167203710112580880CT664037Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781267859510112583606AG664594Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781367859710112590582GA664040Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78144401210112590810GC53180Benign/Likely_benignDilated_cardiomyopathy_1DD|not_specified|Dilat...0.971310.9880.969651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781567203810112591134AG664041Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78164401610112595719GC53184Benign/Likely_benignDilated_cardiomyopathy_1DD|not_specified|Cardi...0.75843.0.697091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781729880810112596122TC320661Likely_benignDilated_Cardiomyopathy,_Dominant..0.013780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781856154210112745766TC552614Benignnot_provided..0.450481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781956158910112760544AG552615Benignnot_provided..0.971451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78204145010112764594TC49888Benignnot_specified|not_provided0.822550.834750.843251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782156149710112768818CT552618Likely_benignnot_provided..0.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782256149610112768850AC552619Benignnot_provided..0.394171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782351107810112836503GC502747Likely_benignnot_specified..0.456471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782429889210115312811TC320281Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia..0.322280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782529889810115334124CT314323Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia0.544060.623490.534550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782629891210115341753GA314337Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia0.419110.400360.3770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782729891510115341846GA309537Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia0.41835.0.37620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782829893010115348726GAG320351Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia.0.348970.347640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782976091610115485245GA767642Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78301774710115804036AG32786Likely_benignResting_heart_rate|not_specified.0.3040.177720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78311774610115805056GC32785drug_responseCongestive_heart_failure_and_beta-blocker_resp....0.7360.701680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783278091310118969353CA712183Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783368383210120907043CG664599Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783468382910120916539TC664615Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783538000710120917445GA371170Benignnot_specified|not_provided0.482390.496330.509981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783668382810120917858TC664055Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783768382610120918950CT664888Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783838000610120920588TC371173Benignnot_specified|not_provided0.466860.481920.494411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783968382510120924874GC664622Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784068382410120925433GC664059Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784167123410121410670CT664065Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784267133710121429072AG664625Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784367549510121432208AG664909Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784425926310121435955AC253698Benignnot_specified0.720160.676740.635181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78454477710121436362AG53944BenignMyofibrillar_myopathy,_BAG3-related|not_specif...0.770340.74090.706471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784629896710121437031CTTGC320409BenignDilated_Cardiomyopathy,_Dominant|Myofibrillar_......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784729897310121437329AG309576BenignDilated_Cardiomyopathy,_Dominant|Myofibrillar_.....0.153160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784829899110123239112GA309584BenignCraniosynostosis|Crouzon_syndrome|Acrocephalos...0.434520.531050.414340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784966790310123241373CT664070Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785066790210123241496TC664912Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785166790110123242026TC664913Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785225531710123243197GA253699BenignCraniosynostosis|Crouzon_syndrome|Acrocephalos...0.454410.561380.423120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785366790010123246612GA664919Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785466789910123279866CT664927Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785525531910123298158TC253704BenignCraniosynostosis|Crouzon_syndrome|Acrocephalos...0.76672.0.795330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785629901910123357561CT320469BenignCraniosynostosis|Crouzon_syndrome|Acrocephalos.....0.710261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785729902910124214355CT314432Likely_benignMacular_degeneration0.12546.0.114420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785829903910124216825TC309623Likely_benignMacular_degeneration..0.051920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785929904110124216834AC314437Likely_benignMacular_degeneration..0.051920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78602132510124221276GC34177Benign/Likely_benignMacular_degeneration|Cerebral_autosomal_recess.....0.048920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786129905410124271589GA309634Benign/Likely_benignMacular_degeneration|not_provided0.999390.999840.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786229905510124271595GA320494Likely_benignMacular_degeneration0.650620.611260.6281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786376839810124351954GA701230Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786440257710124595874GAG389937Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786536889310124768423GA353122Likely_benignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.012981|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786629906010124768437AAG321002Likely_benignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786729908910124812685ATA320535Uncertain_significanceDeficiency_of_2-methylbutyryl-CoA_dehydrogenase...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786829909910124813543CT320547BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.441490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786929911910124815149CG309669BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.895371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787029912610124815394GA321076Likely_benignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.101040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787129912810124815456AC321077BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.172720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787229913410124815771TC314520BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.161540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787329914310124816515CG321087BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.962261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787429915210124817100AG309686BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.962261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787529916010124817748AT320612BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.333870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787668325710126086730GA664657Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787716110126089434GA15200BenignOrnithine_aminotransferase_deficiency|not_prov....0.418030.409941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787868325610126089656TG664627Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787968325510126089703GA664933Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788067211310126090562TC664628Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788168434310126091938CG664074Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788216739610126093991TC177892BenignOrnithine_aminotransferase_deficiency|not_spec...0.80870.852610.865821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788368324210126100850TC664942Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788429918110126107506AC320637BenignOrnithine_aminotransferase_deficiency..0.863021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788529919810127511756CT321178BenignCongenital_erythropoietic_porphyria..0.37320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788622526810127511790GT227033BenignCongenital_erythropoietic_porphyria..0.379390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788777174310131964784GA701252Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788868376510135179777CT664632Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788937996610135180430AG373332Benignnot_specified0.941870.984110.947881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789068376310135183094CA664688Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789168376210135183709GT664656Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789268376110135183802TC664661Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789337996510135184126GA370659Benignnot_specified0.801340.913080.821291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789468375810135184421CG664952Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789568375710135184555TG664086Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789640258110135347397TC389879Benignnot_specified0.965250.991160.972841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789740258210135351362TC389938Benignnot_specified0.718210.830220.700881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789876840411193112CT701694Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789976840511193722AG701695Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790066965311299091GC665036Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790167499011299219CA665986Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790219313111299411CG190296BenignOsteogenesis_imperfecta_type_5|not_specified0.38807.0.592650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790367488511299586AG665688Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790466761311299719TA665859Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790566761211299749GA665863Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790656138811532923AC552660Benignnot_provided..0.056110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
79074043111534242AG48901BenignCostello_syndrome|Rasopathy|not_specified|not_...0.354530.313520.297121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790856135711534403GCCCAGGCCCAGCGCCCAGG,G552665Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
790947607211615010GATT461411Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791030625211791462GA322136BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto.....0.299320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791167057411795374CTC,CC666116Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
791266794311819486TC665287Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791366794411820127TG666312Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791426124511822622AG254345Benignnot_specified0.559240.534180.442491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791525272811823729CT247067Benign/Likely_benignNeutral_lipid_storage_disease_with_myopathy|no...0.01759.0.007590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791626123611824789TC254357BenignNeutral_lipid_storage_disease_with_myopathy|no...0.706840.592370.654351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791730630911824987CTGCAC328307BenignNeutral_lipid_storage_disease_with_myopathy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791830631011825110AG328308BenignNeutral_lipid_storage_disease_with_myopathy..0.342251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7919178786111250488CT175377Benignnot_specified0.318040.439550.392770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7920163995111252708GC175100Benignnot_specified0.52881.0.569490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7921163996111253401CG175799Benignnot_specified0.39738.0.464460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7922163997111253942TC175659Benignnot_specified0.606880.643980.544930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7923403127111255089CCCCTGC389907Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7924163998111255773CT175660Benignnot_specified0.255780.379790.339460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7925403133111264183GA389975Benignnot_specified0.114670.122540.085260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7926403141111264890AG389852Benignnot_specified0.08320.139160.097640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7927403147111266696AC389977Benignnot_specified.0.197890.321490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7928403148111266716TC389927Benignnot_specified.0.169380.294930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7929403150111267325TC389877Benignnot_specified0.302370.489680.480630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7930403159111267960AG389881Benignnot_specified0.67401..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7931403165111268931AC389999Benignnot_specified..0.288940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7932403171111269835GA389954Benignnot_specified..0.461460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7933403175111271429CT390023Benignnot_specified0.38796.0.467050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7934403179111272226AC390027Benignnot_specified0.4698.0.540340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7935403180111272858CT390035Benignnot_specified0.260120.319060.338860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7936303822111774136TG319538Likely_benignNeuronal_Ceroid-Lipofuscinosis,_Dominant/Reces.....0.155950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7937303831111774666TC313438Likely_benignNeuronal_Ceroid-Lipofuscinosis,_Dominant/Reces.....0.200480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7938670819111774934AG665706Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7939258490111775385CT254079BenignCeroid_lipofuscinosis_neuronal_10|not_specifie...0.054270.078660.052320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7940128876111780205AG134324Benign/Likely_benignSeizures|Ceroid_lipofuscinosis_neuronal_10|not...0.089520.078370.076280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7941128875111780867GA134323Benign/Likely_benignSeizures|Ceroid_lipofuscinosis_neuronal_10|not...0.064230.071310.055310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7942128873111782594GA134321Benign/Likely_benignSeizures|Ceroid_lipofuscinosis_neuronal_10|not...0.064370.070410.055310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7943669403111785401TC665626Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7944140481111861225CA150159not_providednot_provided..0.173720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
794594120111861760TC100020Benign/Likely_benignArthrogryposis_multiplex_congenita_distal|Arth...0.80324.0.827680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7946259023111862168CT254092Benignnot_specified0.199660.265890.176920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
794731866111943605GA40526not_providednot_provided..0.781350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
794831868111944202AG40528not_providednot_provided0.72339.0.779750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
794931869111944636AT40529not_providednot_provided..0.81050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7950260032111950302AG254096Benignnot_specified0.79995.0.824280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7951304051112181060TG326978BenignMaturity_onset_diabetes_mellitus_in_young|Sega...0.547550.73780.649161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7952255532112182004AG254106BenignMaturity_onset_diabetes_mellitus_in_young|Sega...0.931870.980490.933911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7953304059112182224AT319828BenignMaturity_onset_diabetes_mellitus_in_young|Sega...0.567140.72680.649561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7954263257112189185GA254111Benignnot_specified0.602470.719490.705671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7955526231112190591CG526178BenignDystonia..0.25020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
795621866112190951CT34718BenignSegawa_syndrome,_autosomal_recessive|not_speci...0.2880.42490.430510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7957671897112789856AG665973Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
795842488112797237GA51658BenignArrhythmia|Long_QT_syndrome|Jervell_and_Lange-...0.143510.258440.180911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7959671898112798448AG665855Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7960671899112868878TC665983Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7961304249112869712GA326211BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn....0.105480.091050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7962304262112870108AG320017BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn....0.448130.521770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7963304268112870165AG320030BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn....0.447450.515380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7964254879112905204GGC254131Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7965768417112923826AG701720Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7966768418112930594CGC777942Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7967258966114103524AG254154Benignnot_specified0.438760.49960.388980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7968258971114104745CG254158Benignnot_specified0.790550.889960.81211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7969769375114615508CG701771Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7970403275114790873CGC390067Benignnot_specified0.319540.212870.215860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7971403274114976145CG390070Benignnot_specified.0.135410.303121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7972256342115246512TG254201Benignnot_specified..0.710260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7973256341115246595CG254202Benignnot_specified|not_provided..0.099240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
797436316115247141GA44980Benignbeta_Thalassemia|not_specified|not_provided..0.713860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7975439774115247726GA433082Benignbeta_Thalassemia|not_specified|not_provided..0.099240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7976256345115247791CG254206Benign/Likely_benignbeta_Thalassemia|not_specified0.85090.76990.720050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7977193106115248243AG190271BenignHb_SS_disease|beta_Thalassemia|Fetal_hemoglobi.....0.714260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7978219307116235656GA220996Uncertain_significanceMalignant_tumor_of_prostate0.005460.004230.00260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7979256592116411935TGCTGGCT254229Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
798093317116415463GA99224Benign/Likely_benignSphingomyelin/cholesterol_lipidosis|not_specif...0.198090.191740.149960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7981674309116550309GA656069Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7982201786116630028TCT198367BenignCardiomyopathy|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7983305489116634149CT328601BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.81031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7984305490116634189GA327528BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.448881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7985558850116637518AG549679Benignnot_provided0.989610.996860.989821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7986305512116637739ATA321432Uncertain_significanceNeuronal_Ceroid-Lipofuscinosis,_Recessive|not_......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7987558856116638506AT549685Benignnot_provided0.465680.549410.462061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7988773524116646898CT701905Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7989306557119800601GA328659BenignCharcot-Marie-Tooth_disease_type_4..0.610821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7990306572119801925TG315597BenignCharcot-Marie-Tooth_disease_type_40.272290.309030.327481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7991669272119802228GC665931Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7992673451119806914TTACTG666136Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7993669269119810432GA666377Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7994669268119810440CT665942Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7995261940119812236GA254371BenignCharcot-Marie-Tooth_disease,_type_4B2|Charcot-...0.885260.858360.802721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7996669265119830732AT665304Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7997669264119834403AG665972Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7998669263119834428CG665974Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7999669262119838235AG666140Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8000669306119851276GA665320Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8001671682119851331CT666379Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8002138965119853777GC142668Benign/Likely_benignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.082290.098730.082270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8003669260119854112AG665980Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8004670562119861009GA666383Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8005669259119863927AC666384Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8006669258119868840AG665322Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8007672627119871849CT666397Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8008672626119874505TG665325Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8009670561119875353GT666152Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8010684195119917222CT665990Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8011673450119917620GC665327Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80126705581110215598CT665379Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80133021371110476689AG312171Likely_benignErythrocyte_AMP_deaminase_deficiency..0.619611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80143021401110476762GC312172BenignErythrocyte_AMP_deaminase_deficiency..0.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80153021421110476898TC324733Likely_benignErythrocyte_AMP_deaminase_deficiency..0.717651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80163021751110521764TC324011Benign/Likely_benignErythrocyte_AMP_deaminase_deficiency|not_speci...0.314470.408370.367410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80173021811110528125AG317975BenignErythrocyte_AMP_deaminase_deficiency..0.974841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80183021841110528483AG324028BenignErythrocyte_AMP_deaminase_deficiency..0.947281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80193021861110528521AG324845BenignErythrocyte_AMP_deaminase_deficiency..0.993411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80203021901110529016GA312217BenignErythrocyte_AMP_deaminase_deficiency..0.994011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80212558171113514053GT254060BenignHypoparathyroidism_familial_isolated|not_speci....0.161060.151360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80222558161113514417CT254061BenignHypoparathyroidism_familial_isolated|not_speci...0.513710.557920.417730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80231271071117298104AC132616not_providednot_provided..0.951081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80241271081117298125CG132617Likely_pathogenicnot_provided..0.665140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80251271101117298277AG132619not_providednot_provided..0.100840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80263037221117408025AG326654Likely_benignMaturity_onset_diabetes_mellitus_in_young|Tran.....0.468851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80273037271117408251GA319470Likely_benignMaturity_onset_diabetes_mellitus_in_young|Tran.....0.467651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80283037311117408404CT319487Likely_benignMaturity_onset_diabetes_mellitus_in_young|Tran.....0.735821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80291586701117408630CT168863Benign/Likely_benignMaturity_onset_diabetes_mellitus_in_young|Isle...0.732020.644840.730631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80301586801117409069GA168871Benign/Likely_benignMaturity_onset_diabetes_mellitus_in_young|Isle...0.22286.0.227440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
803186781117409572TC23717drug_responseglibenclamide_response_-_Efficacy|gliclazide_r....0.64710.737021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80324355541117410144CAC429192Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80331577041117414715TC167552Likely_benignnot_specified0.372090.343860.356230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80341577001117417504AG167548Likely_benignnot_specified0.470380.458340.421530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80351576991117418477CA167547BenignPermanent_neonatal_diabetes_mellitus|not_speci...0.73857.0.726441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80361576981117419279CT167546BenignPermanent_neonatal_diabetes_mellitus|Hyperinsu...0.409670.296230.390970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80371576941117429922TC167542Benignnot_specified|not_provided0.608810.612470.614621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80381576881117448704GA167536BenignPermanent_neonatal_diabetes_mellitus|not_speci...0.353610.434590.368410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80391576841117452492GA167532BenignPermanent_neonatal_diabetes_mellitus|Hyperinsu...0.458730.431120.429910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80404467631117470274CT441416Uncertain_significancenot_specified..0.00160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80413037931117515459CCTGTT325652BenignRetinitis_pigmentosa-deafness_syndrome|Nonsynd......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80426678751117516183TC665835Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8043480081117517235AG57172Benignnot_specified0.352070.406180.369811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80446789081117517381CATC665590Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80456788831117517407GC665837Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80466789091117518525GT665660Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80476788821117522810TC664971Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80486704201117523289CT665666Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80496788811117525965GA664973Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80506704191117531449GT665858Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80512627311117532102CT254073Benignnot_specified|not_provided0.171340.163590.199881|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80526704171117533635GA665668Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80536788801117539255CT665860Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8054479761117542439TC57140Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.5040.568860.516371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8055479751117542491CT57139Uncertain_significancenot_specified8e-050.000140.00060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8056479741117542553CT57138Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.09310.060770.085660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80576704161117542583CT665673Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80586704151117542586TC665676Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80596704141117542649TC664981Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8060479731117542872GC57137Benignnot_specified0.41429.0.442691|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80616788791117545091AG665865Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80626789111117545141CT665682Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80636724621117545704GA665685Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80646724611117545726TC665602Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80656678741117546378TC664982Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80666789071117548704CA665694Likely_benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80672627361117548737TC254076Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80682268921117627613GC230112Benignnot_specified.0.767960.826081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80697684331118290737TG777941Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80702629851118312953GA254082Benignnot_specified0.57650.611650.650160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80712629831118317699CT254084Benignnot_specified0.578940.591450.650160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80721831581118325146CT181294associationdecreased_blood_alpha-hydroxyisovalerate_levels..0.418730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80731636781118327684GT175690BenignHermansky-Pudlak_syndrome|not_specified0.712260.728960.804710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80743039081118416048GGC313482Likely_benignGlycogen_storage_disease_XI...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80756830231118418719CT665627Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80766830241118420805TA665738Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80773039121118422487CA325801Benign/Likely_benignGlycogen_storage_disease_XI|not_specified|not_...0.13840.144190.097440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80786841911118424118AT665925Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80796830251118424223GC665630Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80803039141118424451CT319682BenignGlycogen_storage_disease_XI|not_specified|not_...0.632280.697790.634581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80813039151118424487AG325814BenignGlycogen_storage_disease_XI|not_specified|not_...0.62980.697720.634581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80825588361118424590TA549651Benignnot_provided0.627790.701360.634781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80836830261118425018TC664999Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80846841931118426656AT665748Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80856830281118426796TG665752Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80866830291118427317AG665640Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80876841941118427386TAAACT665755Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80883039251118429450AG313501BenignGlycogen_storage_disease_XI.0.548390.49840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80893039261118429467TC313504BenignGlycogen_storage_disease_XI.0.716240.629991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80903039291118429548CG313512BenignGlycogen_storage_disease_XI.0.548210.4980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80916720121119208070CA665772Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80926784721119210083CT665773Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80936834411119210112GA665776Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80946834391119213543CG665783Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80956834381119213606AG665792Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80963039911120621186CT319758BenignHyperekplexia0.092420.088970.06370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80973040021120622975GA319765BenignHyperekplexia0.369420.406680.405750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80983040031120623007CT313581BenignHyperekplexia0.26612.0.19030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80993040061120623023CT313586BenignHyperekplexia0.32452.0.326880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81003040081120623042TC313588BenignHyperekplexia|Hyperekplexia_30.795020.778910.793131|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81013040111120623156CG325940BenignHyperekplexia|Hyperekplexia_30.993230.998320.993611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81023040181120639400AG325978BenignHyperekplexia0.995.0.99741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81033040261120649644TC319779BenignHyperekplexia0.10134.0.06190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81043040331120673832CA326944BenignHyperekplexia0.152470.162280.075481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81053040431120676417CT326948BenignHyperekplexia0.229740.183310.140781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81063040931122214877AAAGGAGGAGGGGAATGAGGAGGAGG319863BenignGnathodiaphyseal_dysplasia|Miyoshi_myopathy|Li......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81071405441122214903GC150222Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus.....0.789940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81081405471122233029GA150225Benignnot_provided..0.576480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81091405481122233066TC150226Benignnot_provided..0.574280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81101405541122240056GA150232Benignnot_provided..0.789940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81116679641122240112TC665646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8112966811122242729TC102574Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.844430.777220.789940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81131405591122247205AG150237not_providednot_provided..0.789940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81146679651122248548TC665830Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8115966871122271870AT102580Benign/Likely_benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.44864..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81161405571122297770GC150235Benignnot_provided0.15012.0.206470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81173041211122301807AG326025Likely_benignMiyoshi_myopathy|Limb-Girdle_Muscular_Dystroph.....0.444091|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81183041301122302597GT327045Likely_benignMiyoshi_myopathy|Limb-Girdle_Muscular_Dystroph.....0.567490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81193041401122303067GAG326053Likely_benignMiyoshi_myopathy|Limb-Girdle_Muscular_Dystroph......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81203041421122303200TAAGAT319915Likely_benignMiyoshi_myopathy|Limb-Girdle_Muscular_Dystroph......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81213041631122304489CG319943BenignMiyoshi_myopathy|Limb-Girdle_Muscular_Dystroph.....0.692890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81223041811122644893AAT327062Uncertain_significanceFanconi_anemia...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81233041851122645413GA319949BenignFanconi_anemia..0.949081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81243041901122645600CT326155BenignFanconi_anemia..0.971451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81253041971122646025GA313761BenignFanconi_anemia..0.703671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81262616301122647366GA254128BenignFanconi_anemia|not_specified|not_provided0.14663.0.113820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81271793291127679662TC175704Benignnot_specified0.996080.998910.995211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8128176971127679916CT32736BenignMemory_impairment,_susceptibility_to|not_speci....0.193750.201280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81292570611130255185CT254134Benign/Likely_benignnot_specified|isolated_follicle-stimulating_ho...0.528460.51420.614821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81303042801130255823AG320035Likely_benignisolated_follicle-stimulating_hormone_deficiency..0.558511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81313042811130255867CG313853Likely_benignisolated_follicle-stimulating_hormone_deficiency..0.558711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81323042831130255982AG320036Likely_benignisolated_follicle-stimulating_hormone_deficiency..0.557311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81333043011131807524CT320084BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.643170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81343043091131808235TTAAAA320089BenignCongenital_aniridia|Anophthalmia|Irido-corneo-......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81353043101131808280CT327207BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.849841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81363043171131808585AAAAAT327217BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.847841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81373043281131809070CT320108BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.173320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81383043341131809322CT327224BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.447880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81393043411131810298TA313877BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.660940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81406740091131812582CT665691Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81412581681131815362GA254136BenignCongenital_aniridia|Anophthalmia|Irido-corneo-...0.045920.077920.090460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81427684391132125961CT701735Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81434032191134154641CT390041Benignnot_specified0.848690.933690.860421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81445590601134460541TC549658Benignnot_provided0.631090.67490.528751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81451268671135172122GA132380associationCalcium_oxalate_urolithiasis..0.276360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81461268681135175045TC132381associationCalcium_oxalate_urolithiasis..0.276360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81471268691135179651GA132382associationCalcium_oxalate_urolithiasis..0.197480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81481268711135188191GA132384associationCalcium_oxalate_urolithiasis..0.280950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81491268721135191445CG132385associationCalcium_oxalate_urolithiasis..0.453470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81501268751135192629CT132388associationCalcium_oxalate_urolithiasis..0.539940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81511268771135221862TA132390associationCalcium_oxalate_urolithiasis..0.388180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81523045421136613807TC320476BenignHistiocytic_medullary_reticulosis|Severe_Combi.....0.613221|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81533045611136619761AG326452Likely_benignHistiocytic_medullary_reticulosis|Severe_Combi.....0.097640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81543045691144117409GT320503BenignHereditary_Multiple_Osteochondromatosis..0.085860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81553046231144283297TC326553BenignEnlarged_parietal_foramina..0.907350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81563046331144283722GA326556BenignEnlarged_parietal_foramina..0.732630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81573046441144284294TC327560BenignEnlarged_parietal_foramina..0.991811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81583046741144285432GA326607Likely_benignEnlarged_parietal_foramina..0.013780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81593046831144285594CCTTC320588Likely_benignEnlarged_parietal_foramina...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81603046861144285857TC320593BenignEnlarged_parietal_foramina..0.884781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81613046881144285887GA320598BenignEnlarged_parietal_foramina..0.755991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81623046941144286176GA326638Likely_benignEnlarged_parietal_foramina..0.199080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81633047031144289183CT320622Likely_benignEnlarged_parietal_foramina0.093360.083130.080070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81643047061144297054TC320633BenignEnlarged_parietal_foramina0.99123.0.991611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81653047111144331309GA320636BenignEnlarged_parietal_foramina.0.602830.372011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81663047151144331509CG320646BenignEnlarged_parietal_foramina0.424210.591440.472641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8167959031145827350AG101799Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.276920.211370.250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81682610271145832295AG254171Benignnot_specified0.216550.170980.18871|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8169959051145832509AG101801Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.143420.094150.102840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81702610261145832935GA254172BenignCongenital_disorder_of_glycosylation|not_speci...0.640210.674120.451280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81713047481145833300GA327713Likely_benignCongenital_disorder_of_glycosylation..0.031751|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81723047551145833960CT327715Likely_benignCongenital_disorder_of_glycosylation..0.12460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81733047571145834044CT314145BenignCongenital_disorder_of_glycosylation..0.720651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81743047591145834198TC326748BenignCongenital_disorder_of_glycosylation.0.774290.653751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81753047601145834201CT314146BenignCongenital_disorder_of_glycosylation.0.170130.12460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81763689621145931218TC353191Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.032350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81772595471145935384AG254173BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.811370.815450.68911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81782595461145936035GA254174Benignnot_specified|not_provided0.80660.810050.68491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81798026731145937267CT791139BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81802595441145937306CT254176Benignnot_specified|not_provided0.01976.0.013180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81817684441146342081TGT778136Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81822563151146744925GC254180Benign/Likely_benignVenous_thrombosis|Hereditary_factor_II_deficie...0.538390.602610.455270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81831439961146760756GA153726Uncertain_significanceVenous_thrombosis..0.282950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81843048381146879973AG326840BenignSyndactyly_Cenani_Lenz_type..0.582671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81853048501146890165CT320781BenignSyndactyly_Cenani_Lenz_type0.66008.0.579671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81863048551146893108TC326858BenignSyndactyly_Cenani_Lenz_type0.42531.0.367610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81873048721146898771TC326874BenignSyndactyly_Cenani_Lenz_type|not_specified0.516150.58490.445890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81883048841146914583TC320834BenignSyndactyly_Cenani_Lenz_type0.979230.988830.980831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81893048851146914598AG327831BenignSyndactyly_Cenani_Lenz_type0.995770.998870.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81901885781147354905TC186356Benignnot_specified0.078680.106920.032950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81916806471147362279AG665057Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81926806461147363285GA666044Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81936806451147369720AG666051Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8194427631147371484AGA51933Benign/Likely_benignCardiomyopathy|Hypertrophic_cardiomyopathy|Lef......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81954034581147431728AG390052BenignSpondylocheirodysplasia,_Ehlers-Danlos_syndrom...0.944130.985350.94051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81963847071147434986GA372229Benignnot_specified0.24581.0.270571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81976840341147460005TC665908Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81986691091147460098CT665909Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81991300891147460306AG135535BenignPena-Shokeir_syndrome_type_I|not_specified|Con...0.612310.683730.62481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82001972491147463483AGA194410BenignPena-Shokeir_syndrome_type_I|not_specified|Con......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82011300911147469439AG135537BenignPena-Shokeir_syndrome_type_I|not_specified|Con...0.620110.684670.62561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82026798511147470862AC666065Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82036830701147600352AG665750Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82047684461147788663CGGTGGTC701795Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82057684481151516144AG701804Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82066680991157427955TC665910Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82073050421159611362GA314350Likely_benignIntrinsic_factor_deficiency0.058810.074720.053710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
820817421159612859TC16781BenignIntrinsic_factor_deficiency,_congenital,_susce....0.060720.102640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82092607471161133604CT254215Likely_benignnot_specified0.000460.000440.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82106719281161133980GA665081Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82116675511161135129AG665912Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82126675521161159661TC665914Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82131262961161165280GA131828BenignJoubert_syndrome|Meckel-Gruber_syndrome|not_sp...0.832280.865880.855830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82141677341161165731CCA178098BenignJoubert_syndrome|Meckel-Gruber_syndrome|Jouber...0.827620.859330.855830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82151262971161165741GC131829BenignJoubert_syndrome|Meckel-Gruber_syndrome|Jouber...0.70388.0.719650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82163050901161166306GA314380BenignJoubert_syndrome|Meckel-Gruber_syndrome..0.719650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82172609421161205434GA254221Benignnot_specified0.686590.81950.718050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82183051001161213920TC327110BenignPheochromocytoma..0.861420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82191667531161725599AATCCTCCTCC177523Benign/Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82201936661161730036GA190829BenignIron_Overload|Vitelliform_macular_dystrophy_ty...0.234270.227120.112220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8221996801161730183CT105569BenignIron_Overload|Vitelliform_macular_dystrophy_ty...0.170510.175160.101441|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8222996821161730234TC105571BenignIron_Overload|Vitelliform_macular_dystrophy_ty...0.399320.458340.591451|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82237746931161897404CT701832Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82241676001162381106GC178019Benignnot_specified|not_provided0.938470.982210.93531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82258026801162383715GC791146BenignMultiple_joint_dislocations,_short_stature,_cr......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82266843171162438819GT665916Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82273801471162439569GA374164Benignnot_specified0.679590.758560.74941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82282574961162458663AC254222Benignnot_specified0.024460.022090.009780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82292575001162459994AG254223Benignnot_specified|not_provided0.73050.77560.74941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82306781511162460066TC665751Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82317772281163449138CT701849Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82326836061163742553TG665926Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82336836081163743420AG665934Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82344028621163986713CA390006Benignnot_specified0.32632.0.31291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82354028641163988102CT390058Benignnot_specified0.15850.189890.162940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82363052131164358311CT321162BenignFamilial_renal_hypouricemia..0.386980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82373052181164358605TC321164BenignFamilial_renal_hypouricemia..0.571891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82383052251164358809GA327258BenignFamilial_renal_hypouricemia..0.385380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82393052301164359286CT327262BenignFamilial_renal_hypouricemia|not_specified0.538330.577950.387180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82403052331164360274TC328343BenignFamilial_renal_hypouricemia|not_specified0.536170.575110.385980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82413052411164367325AG328349BenignFamilial_renal_hypouricemia|not_specified0.97628.0.976841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82423052441164367862TC321203BenignFamilial_renal_hypouricemia0.318820.303310.397360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82431298331164418900GA135279Likely_benignnot_specified0.52416.0.381790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82441298371164480641GA135283Likely_benignnot_specified0.68440.724320.533551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82456807271164520255CG666092Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82466686051164520374TA665950Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82472598301164520942GT254234Benignnot_specified0.749460.812880.658951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82482598401164525216CT254236Benignnot_specified0.701990.793310.612421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82491346401164572018TC138379Benignnot_specified|not_provided0.908430.937780.834471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82501672881164572557AG177834Benignnot_specified|not_provided0.976150.992750.976041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8251962491164572602GA102143Benign/Likely_benignHyperparathyroidism|Multiple_endocrine_neoplas...0.304020.393350.307910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82523053171164578113TA321251Benign/Likely_benignHyperparathyroidism|Multiple_endocrine_neoplas.....0.197280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82533053341165485727TG327435BenignAicardi_Goutieres_syndrome..0.824881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82544028181165631973GA390090Benignnot_specified0.530780.579280.429910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82554028191165632262GT390063Benignnot_specified0.52986.0.428320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8256390151165636053TC47618BenignAutosomal_recessive_cutis_laxa_type_IA|Cutis_l...0.894490.96950.894571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82573053881165640204CT327479BenignCutis_laxa,_recessive|Autosomal_recessive_cuti....0.79170.620610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82583054001165769780TG327485BenignNestor-Guillermo_progeria_syndrome..0.417931/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82593054011165769809GC314640BenignNestor-Guillermo_progeria_syndrome..0.676921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82603054191165787666GA321354Likely_benignMale_infertility0.1720.156050.162540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82613054211165788072CT321357BenignMale_infertility0.962440.979650.93651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82623054331165790527GT321362Likely_benignMale_infertility0.454520.518550.431910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82637707701165819931GT701898Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82641298691166001418CT135315Likely_benignnot_specified0.187840.179190.211060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82651298711166006323GC135317Likely_benignnot_specified0.205480.242390.227240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82661298721166010633TC135318BenignHistory_of_neurodevelopmental_disorder|not_spe...0.982990.99540.983031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82672600571166114900CT254254Benignnot_specified0.126020.17220.139380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82687717471166191840GC701922Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82692617451166299515AG254262BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.676620.589370.612820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82703054831166300463GA314744BenignBardet-Biedl_syndrome..0.384590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82712591681166331458AG254263BenignSeizures|Ceroid_lipofuscinosis,_neuronal,_13|n...0.626560.530030.589060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82722591721166333598CT254267BenignSeizures|Ceroid_lipofuscinosis,_neuronal,_13|n...0.626560.530770.588860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82732591691166335548AG254270BenignSeizures|Ceroid_lipofuscinosis,_neuronal,_13|n.....0.582670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82742591661166335832GA254271BenignSeizures|Ceroid_lipofuscinosis,_neuronal,_13|n....0.489360.207870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82752855651166472274TC269802Benignnot_specified0.988150.996880.987821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82762625791167223920CAGC254272Conflicting_interpretations_of_pathogenicitynot_specified|Congenital_Stationary_Night_Blin......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82773056711167227006GA328807BenignCongenital_Stationary_Night_Blindness,_Recessive..0.280750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82782592051167257823CA254275BenignHereditary_cancer-predisposing_syndrome|not_sp...0.834260.954960.845451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
827948931167258382GA19932Conflicting_interpretations_of_pathogenicityDopamine_agonist_response|Hereditary_cancer-pr....0.00146.1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82802592061167258391AG254276BenignHereditary_cancer-predisposing_syndrome|not_sp...0.999770.999910.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82816831441167374156AG665148Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82826831751167377562GA665159Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82836831781167378229TG666146Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82843057651167800494TG328891BenignLeigh_syndrome|Mitochondrial_complex_I_deficiency0.9749.0.968651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82852357621167807143AAC237442Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82862354221167813930AG237106Benignnot_provided..0.819690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82872356321167814979GC237313Benignnot_specified|not_provided0.974980.992750.969851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82882586341168171013TC254279Benignnot_specified0.815370.900060.841451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82892586381168192690GA254283Benignnot_specified0.526490.675480.579271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82906737611168529358CT666162Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82916737601168529378CG665170Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82926737591168529410GGA665790Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82936780641168549019TC666165Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82941669511168549340AG177647Benignnot_specified0.9120.93130.892571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8295939751168566839GA99877Benignnot_specified.0.93750.903551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82966784701168571777GA666006Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82976689071168671104AG665799Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82982585751168671477TC254288BenignSpinal_muscular_atrophy|Spinal_muscular_atroph...0.787610.758950.675121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82996687441168673269AT665800Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83006818631168675512GC665171Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83016689081168678634CT666009Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83026818781168678718GT665811Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83032585761168678962TC254293BenignSpinal_muscular_atrophy|Spinal_muscular_atroph...0.778570.771890.680511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83046818841168701118CT665186Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83056818861168702632CT665187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83062585661168703959AG254303BenignSpinal_muscular_atrophy|Spinal_muscular_atroph...0.246770.298830.246210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83072585701168704264CT254306BenignSpinal_muscular_atrophy|Spinal_muscular_atroph...0.247610.298850.246210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83086818791168705504GT666016Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83091943681168705674CA191531BenignSpinal_muscular_atrophy|Spinal_muscular_atroph...0.21012.0.197091|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83106378901168705876GA625259Benignnot_specified...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83116818811168705936TG666017Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83126818821168706759CT665189Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83136818831168706848GA665823Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83143058681168707454TC321822BenignSpinal_muscular_atrophy..0.670931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83153058721168707626CT315023BenignSpinal_muscular_atrophy..0.196690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83167271168846399AT15766associationSkin/hair/eye_pigmentation,_variation_in,_10..0.099640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8317137551169462910GA28794risk_factorVON_HIPPEL-LINDAU_SYNDROME,_MODIFIER_OF|Colore...0.386740.455130.413541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83183058811170314597TA327887Likely_benignAutism_spectrum_disorder...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83193058891170316391AG315045Likely_benignAutism_spectrum_disorder...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83203059311170935766TC321887Likely_benignAutism_spectrum_disorder..0.746811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83213059361171145687TC315071BenignSmith-Lemli-Opitz_syndrome..0.773561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83223059401171145778GA329056BenignSmith-Lemli-Opitz_syndrome..0.743611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83233059491171146302CT329073Uncertain_significanceSmith-Lemli-Opitz_syndrome..0.004390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8324937071171146691AG99610BenignSmith-Lemli-Opitz_syndrome|History_of_neurodev...0.871190.853120.756391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83256733311171150217CT665829Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83266792821171150296CT666173Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8327937191171152461AG99622BenignSmith-Lemli-Opitz_syndrome|History_of_neurodev...0.90999.0.807311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83286792811171154820GA665194Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8329937151171155153AG99618BenignSmith-Lemli-Opitz_syndrome|History_of_neurodev...0.912920.87550.81011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8330937131171155171CT99616Benign/Likely_benignSmith-Lemli-Opitz_syndrome|History_of_neurodev...0.626910.571850.400961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83316676561171155641AG666175Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83323059691171159429GA327973Likely_benignSmith-Lemli-Opitz_syndrome..0.353441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83336834701172118827CA665207Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83343060341174166278GA315142Likely_benignBrugada_syndrome..0.596051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83353060351174166320TG329246Likely_benignBrugada_syndrome..0.424720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83363060451174166859AG328028Likely_benignBrugada_syndrome..0.595650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83373060461174166866GA321937Likely_benignBrugada_syndrome..0.567090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83383060631174167374CCAAAA329302Uncertain_significanceBrugada_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83393060661174167409TC328059Likely_benignBrugada_syndrome..0.566690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
834055411174168361CT20580Conflicting_interpretations_of_pathogenicityVentricular_fibrillation|Syncope|Cardiomyopath....0.002970.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83416835551174168982TC666203Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83421951411175277628AG192302Benignnot_specified|Osteogenesis_Imperfecta,_Recessive0.913010.899520.889980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83433061051175277992CT315181Benignnot_specified|Osteogenesis_Imperfecta,_Recessive0.42570.439990.299320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83446675951175279539CT666211Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83456675961175280478TA666214Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83463061151175283253AG328131BenignOsteogenesis_Imperfecta,_Recessive..0.24780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83472592251176827360AG254323Benignnot_specified0.318240.313750.355430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8348432581176853783TC52428BenignUsher_syndrome,_type_1|Retinitis_pigmentosa-de...0.46859.0.513580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8349433431176868372TC52513BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.47559.0.474040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83506806601176869774CG665243Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83516788211176870634TC666050Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83526806611176872414CG666223Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83536703531176873620TC666240Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83546806641176874296AG666056Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83556788221176876976GGT665244Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83566806621176877491TC666061Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83576788231176884122AT666242Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83582556611176885779GA254327Benignnot_specified|not_provided0.528030.54320.485620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83596788241176886718GA666248Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83606703551176890242TC666255Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83616788251176890400TC666068Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83626806631176890444AG665245Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83636788261176891585GA666070Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83646788271176891661AG665840Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83656703561176892368CG666071Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83666703571176892943AG666073Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83676788291176893401GA666262Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83682556621176894235GC254328Benignnot_specified|not_provided0.61907.0.555110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83696806681176900078GA665847Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83706788301176900267GA665248Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83716703591176901273CT666076Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83726788311176901623TTGCTGGGGCCTGGAGC666267Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83736703601176901648CG665848Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8374432261176901927CT52396BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.485530.537610.468450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83756703611176902024GA665852Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83766788321176902853AG666272Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83776788331176902927CT666078Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83786703771176903003CG665250Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83792556631176905604GT254329Benignnot_specified|not_provided0.581570.564490.545330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83806703791176905725CT665252Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83816739001176908319CG665854Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83826739011176908324AG665856Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83836739021176908976CA666274Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83846806691176910319CT665258Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8385432571176910766CT52427BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.457320.508290.432510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8386432691176912636AT52439BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.589110.543990.551720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83876788351176913098TC665861Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83886703811176915436CG665872Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83896788381176916424AG665262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83906703821176916967AG665877Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8391432961176917220AG52466BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.553730.523210.554910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83926806701176918072GC665878Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8393432971176918322TC52467BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.632950.632980.593450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83942556641176918497GA254330Benignnot_specified|not_provided0.574570.539130.512980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8395433031176919468AT52473BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.559650.56750.512980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8396433041176919478CA52474BenignDeafness,_autosomal_recessive_2|Retinitis_pigm...0.54921.0.4990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83976743871176919619GA666080Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83986743881176919629CT665881Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8399433151176919865TA52485Benignnot_specified0.564790.544520.512980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84006788391176920003TC665263Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84016788401176920038TG666083Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84026788411176920082CG666087Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84036806711176920111GA666279Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8404433231176922868CT52493Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.031630.026730.015970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8405433241176922946GA52494Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.246830.180560.195690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84062556651176924130AT254331Benignnot_specified|not_provided0.872560.904480.807711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8407433321176925040GA52502Benignnot_specified0.188370.200050.111021/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84086703851176925075GT665884Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84096806751176925395TC666287Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84103062101176926245CT315259Likely_benignRetinitis_pigmentosa-deafness_syndrome|Nonsynd.....0.033950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8411960881177811990TC101982BenignCongenital_disorder_of_glycosylation|Congenita...0.880390.831910.832671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84122616831177820670TC254333Benignnot_specified0.228740.195260.258590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84132616841177820673TC254334Benignnot_specified0.228970.194710.258390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84142616821177825064AG254335Benignnot_specified0.224360.225370.258790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8415960921177825320TC101986Benign/Likely_benignCongenital_disorder_of_glycosylation|Congenita...0.176530.199080.146370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84162616801177832076TA254337Benignnot_specified0.999920.9999911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84176676381178204406CT665895Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84186826591178204561AG666301Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84196826581178270304AG665276Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84203800011178277277AG371732Benignnot_specified0.734170.716240.650561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84213800001178279790TG372457BenignCombined_oxidative_phosphorylation_deficiency_...0.790710.738170.710061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84226826561178285096TG666099Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84233799991178285875AT372729Benignnot_specified..0.608431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84246716021185339344CT666324Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84256841921185339380TA666328Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84266716031185340591CT666122Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84276716041185342959TC665901Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84282152691185359094AAGACC211570Benignnot_specified|Optic_Atrophy,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84296764421185366516CG666342Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84302620221185366762AG254360Benignnot_specified|Optic_Atrophy,_Recessive|not_pro...0.256080.285380.3760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84314032971185692181AC390064Benignnot_specified0.60328.0.62280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84324032981185718641TC390024Benignnot_specified0.16913.0.232030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84334032991185725937CT390092Benignnot_specified0.83410.786120.788741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84343063351186657520AG328331BenignFamilial_exudative_vitreoretinopathy..0.509981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84353063501186658243TCAAACAAATCAAA,T315395Uncertain_significanceFamilial_exudative_vitreoretinopathy...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
84363063651186659213AG315414BenignFamilial_exudative_vitreoretinopathy..0.193090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84373063851186660886GA315440BenignFamilial_exudative_vitreoretinopathy..0.703671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84382581911188033661AG254362Benignnot_specified0.86529.0.930110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84394025721188045583AG389960Benignnot_specified0.864080.886080.930910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
844037831188910923CA18822BenignTyrosinase-negative_oculocutaneous_albinism|no.....0.18590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
844137791189017961GA18818Conflicting_interpretations_of_pathogenicityAlbinism|Abnormality_of_metabolism/homeostasis....0.176970.081271|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
844237771189017973CT18816Pathogenic/Likely_pathogenicInborn_genetic_diseases|Oculocutaneous_albinis...0.003620.003490.0020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84435182451193527219TC508868BenignMicrocephaly,_postnatal_progressive,_with_seiz...0.93991.0.933111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84441295971193529655GA135043BenignMicrocephaly,_postnatal_progressive,_with_seiz...0.109790.118530.113221|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84453064501194150790TC315480BenignAtaxia-telangiectasia-like_disorder_1..0.234230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84461938841194197260AG191047BenignAtaxia-telangiectasia-like_disorder_1|not_spec...0.352130.378310.388780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84471296231194212048CT135069BenignAtaxia-telangiectasia-like_disorder_1|not_spec...0.269580.325230.31310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84482597981194225920CT254368Benignnot_specified0.41014.0.457270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84494031031194231257CG390028Benignnot_specified0.589780.541090.547520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84508027131195564259AG791184BenignMosaic_variegated_aneuploidy_syndrome_2...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84513065051195566502CT329846Likely_benignCharcot-Marie-Tooth_disease_type_4..0.020170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84523065061195566520AG315510BenignCharcot-Marie-Tooth_disease_type_4..0.203471|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84533065111195566886GA315515BenignCharcot-Marie-Tooth_disease_type_4..0.202481|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84543065141195567035CT328558BenignCharcot-Marie-Tooth_disease_type_4..0.203470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84553065271195567905CT328580BenignCharcot-Marie-Tooth_disease_type_4..0.202080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84566832201195568757CA665290Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84576832181195569183GA666350Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84586832191195569253AC665292Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84596687511195570961GA665907Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84606832171195577929TC666355Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84612606851195580926GA254369BenignCharcot-Marie-Tooth_disease,_type_4B1|Charcot-...0.298050.297990.209270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84626832151195583995AG665294Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84636843841195594831AG665928Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84646734471195595694TC666372Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84656832131195598629AG666132Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84662606861195657111TG254370BenignCharcot-Marie-Tooth_disease,_type_4B1|Charcot-...0.23982.0.212860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84677684711199690428TG702050Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
846830188411101322975CCTAAA312031BenignFocal_segmental_glomerulosclerosis...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
846916214611102470256AG171859not_providednot_provided..0.12660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847025953911102495998TG253985Benignnot_specified|Amelogenesis_Imperfecta,_Recessive0.63742.0.676520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847140309911102593248TC389935Benignnot_specified0.553450.542350.600040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847240310011102595492GA389939Benignnot_specified0.622650.597150.654350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847340309211102666316TC389957Benignnot_specified0.958630.930360.931310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847440309311102668022CT389961Benignnot_specified0.083130.058370.072280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847580271511102668603CACAA,C791023BenignPreterm_premature_rupture_of_membranes...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
847666769111103004929CG665391Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847730201811103006557GA312103Benign/Likely_benignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.032270.043140.041530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847866769311103019633AG665389Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847966769411103023735AT664787Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848066944411103024489GT665661Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848166944611103025666AC665396Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848219600911103029516AG193170BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.672080.712630.668330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848337942011103036743CG371669Benignnot_specified|not_provided0.021970.020950.014580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848430204011103039680TC312117Conflicting_interpretations_of_pathogenicityShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.000170.0003.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848566769511103041197TC665407Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848666771411103042047TC665664Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848767403111103043599GA665409Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848816701111103047007CA177681BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.944620.917830.931311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848966771611103050219GC665665Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849030205611103057048AG312136BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.59755.0.571490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849166771711103057411TG665411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84929352911103058126CT99434BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.643770.632960.617010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849366771811103059091AG664814Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849466771911103061960GC665461Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849566772011103068444GA664817Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849666945011103068941GA665687Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849766945111103070545AG665422Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849866772111103074639CA665425Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849966772211103074658AG665434Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850066772311103075233TA664819Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850130207311103082590GA317856BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.754440.787350.738421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850266772411103086725CG665690Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850366772511103090472AC665696Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850466772611103090885GA665699Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850566772711103090972AT664820Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850666772811103092572GA665700Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850766774611103093490AT665468Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850866774711103094140CG665441Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850966774811103101868GC665473Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851066945211103102327AATAT665444Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851166775111103116366CT665477Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
85129352711103123999GT99432BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.387540.376450.429310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851366775211103124328TC665467Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851466945611103150870GT665475Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851566775511103151437CT665720Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851666945711103152598GA665481Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851766775611103158542AC665486Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851866992211103173558GA665488Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851966775911103178820GA665491Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852066992311103182320AG665726Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
85219352811103182774CA99433BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.1235.0.133590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852266777611103183045TG665730Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852366778611103192089GC664847Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852466778811103194949TC665747Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852530211711103229027TC317899BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.558420.658910.495011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852666779011103229238GA665754Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852766993011103229274TC664854Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852866780811103229313TA664858Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852922601311103418158AG227832drug_responsePlatinum_compounds_response_-_Toxicity/ADR|eto.....0.43711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853040249111104761100TC389897Benignnot_specified.0.999390.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8531217111104763117GA17210Likely_benignSepsis,_susceptibility_to|not_specified.0.985620.948481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853263262411108012510AAAAGT621797Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853330224011108093833GA318028BenignAtaxia-telangiectasia_syndrome|not_provided..0.476041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853418184711108121410CCT,CTT180398Benign/Likely_benignHereditary_cancer-predisposing_syndrome...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
853543941811108143182CT433369BenignAtaxia-telangiectasia_syndrome..0.652561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853618185711108150207CTC180439Benign/Likely_benignAtaxia-telangiectasia_syndrome|Hereditary_canc......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853718185811108151707TTA180443Benign/Likely_benignAtaxia-telangiectasia_syndrome|Hereditary_canc......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853848953611108152582CT482779BenignHereditary_cancer-predisposing_syndrome..0.511581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853951663311108158134TC503053Benignnot_specified|not_provided..0.511781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854012845811108175462GA133907Benign/Likely_benignAtaxia-telangiectasia_syndrome|Hereditary_canc...0.102320.110140.066890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854113362711108183167AG137366Benignnot_specified|not_provided.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854263264911108196509GC621801Benignnot_specified..0.534941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854363305511108196712CATTC621803Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854430226511108236783GT324952BenignAtaxia-telangiectasia_syndrome..0.518371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854530227211108237839CT324093BenignAtaxia-telangiectasia_syndrome..0.518171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854630228511108238939AAT312262Uncertain_significanceAtaxia-telangiectasia_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854730229911108239628GT324138BenignAtaxia-telangiectasia_syndrome..0.534551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854822594211108283161CA227817drug_responsemetformin_response_-_Efficacy..0.468451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854930233311110101670GAG318158Likely_benignNonsyndromic_Hearing_Loss,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855030237911111654620CTATATC318212Likely_benignCongenital_disorder_of_glycosylation...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855130238211111654641GTG325030Uncertain_significanceCongenital_disorder_of_glycosylation...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855230238511111654648TA324294Uncertain_significanceCongenital_disorder_of_glycosylation...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855367247711111780837GA665558Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
85544423411111781047AC53401BenignPosterior_polar_cataract|Alpha-B_crystallinopa...0.27239.0.239821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855568026411111782697GC665554Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855668373211111914449GA665556Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
85574464811111966307TC53815BenignPheochromocytoma|not_specified..0.93611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855819843611113283459GA195597Benign/Likely_benignnot_specified0.408880.415770.244011|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855925681411113283477AG253992Benignnot_specified0.596280.641110.526561|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856025681311113283484GC253993BenignDystonia|not_specified0.016930.026410.031750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856122596311113346351TC227820drug_responsenot_specified|risperidone_response_-_Efficacy..0.119010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856250810911113561054AG503143Benignnot_specified0.736150.69590.770171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856350810811113561057AG504043Benignnot_specified0.73480.696140.770171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856450814611113565322CA503152Benignnot_specified0.097320.090120.089460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856550810711113570405TC503712Benignnot_specified0.742130.731570.770771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856650810611113570852CT503716Benignnot_specified0.200230.343070.213860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856777786011113815354TG701564Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856812714111116660686GA132639risk_factorHypertriglyceridemia,_susceptibility_to..0.87421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856949649511116662331GT487403Benignnot_provided0.102390.109720.090660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8570440311116662407GC19442risk_factorHypertriglyceridemia,_susceptibility_to..0.055710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857154811411116663707GA538603drug_responselovastatin_response_-_Efficacy|atorvastatin_re.....0.837061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857251823511116701535TC508859BenignHyperalphalipoproteinemia_2|not_provided0.740650.65420.597050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857326047511117252489TC253998Benignnot_specified0.935930.912390.901360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857426048311117266754AC254004Benignnot_specified0.627830.551860.527360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857526048511117267884AG254006Benignnot_specified0.533860.485190.463260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857626049011117282800GT254011Benignnot_specified0.96460.93830.908350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857730251511117690918AC318307BenignRenal_Hypomagnesemia,_Dominant..0.192891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857830254611117864047AG318326BenignInflammatory_bowel_disease|not_specified0.501390.527340.516771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857930255411117869670AG318357BenignInflammatory_bowel_disease|not_specified0.728450.738140.81111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858030258011117872086GA318366BenignInflammatory_bowel_disease.0.502020.55971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858130258411118004463CT324524Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.007870.0020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858230258511118004688AG324528Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.66820.640780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858330259111118004863AG312473Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.23340.159550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858430259411118005119TC318395Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.231280.157350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858530260411118005622TG312477Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.231960.159340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858630261511118006408CT312485Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.433750.419730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858730262911118006807AAGGGGGAGAAGC312495Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.291270.284740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858830263511118006957CT318464Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.658170.616210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858967191611118011776GA665565Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859067191511118011805CT665604Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859167191411118012164GA665568Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859240341911118016068CT389847Benignnot_specified|not_provided.0.681980.68490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859325944611118037813GT254012Benignnot_specified0.438110.502190.514381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859451823611118209960AC508860BenignSevere_combined_immunodeficiency,_autosomal_re...0.614070.675210.62581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859530267811118215075AGGCTA312525Benign/Likely_benignImmunodeficiency_due_to_defect_in_CD3-gamma|Se......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859647479911118221349TGCT460944Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859730268811118224059AG318503Likely_benignImmunodeficiency_due_to_defect_in_CD3-gamma..0.072080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859830269311118224268GT324614Likely_benignImmunodeficiency_due_to_defect_in_CD3-gamma..0.297721|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859976848911118529017TG701599Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860037717011118533594TC364048Likely_benignnot_provided0.004150.007140.00160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860140241211118769442AG389959Benignnot_specified0.48590.424620.444090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860230270111118895495CG318535BenignGlycogen_storage_disease,_type_I..0.283550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860313919211118895686CT142895Benignnot_specified0.255720.218750.24780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860413919011118898319GA142893Benignnot_specified0.115850.105660.077480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860580137011118898435ACA789809Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860677960311118900338GA779515Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860730271811118901166CG325405BenignGlycogen_storage_disease,_type_I..0.849641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860825548711118959331GA254014BenignAcute_intermittent_porphyria|not_specified0.625170.558060.572881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860925548611118962816CA254016BenignAcute_intermittent_porphyria|not_specified0.22633.0.31470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861056149311119144402AG552641Benignnot_provided..0.987221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86115579611119148573GT70452BenignNoonan_syndrome-like_disorder_with_or_without_...0.624580.601120.728630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861230279211119170855TTGG324752BenignNoonan-Like_Syndrome_Disorder...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861330281811119172536AG312630BenignNoonan-Like_Syndrome_Disorder..0.219250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861430282911119173587CG325571Likely_benignNoonan-Like_Syndrome_Disorder..0.007390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861530285211119175075CA318699BenignNoonan-Like_Syndrome_Disorder..0.396770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861630285811119175422TC312665BenignNoonan-Like_Syndrome_Disorder..0.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861730290111119177938AG318734BenignNoonan-Like_Syndrome_Disorder..0.232430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861830290211119178050CG324826BenignNoonan-Like_Syndrome_Disorder..0.412140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861919859611119215476GA195757Conflicting_interpretations_of_pathogenicityRetinal_degeneration|Microphthalmia,_isolated_...0.002160.002820.0020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862016729711119216231AG177837Benign/Likely_benignRetinal_degeneration|Microphthalmia,_isolated_...0.9277.0.901961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862114315711119216279GA152875Benign/Likely_benignRetinal_degeneration|Microphthalmia,_isolated_...0.22505.0.201480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862216729911119216504CT177134Benign/Likely_benignRetinal_degeneration|Microphthalmia,_isolated_...0.246380.266360.182110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862330298211119217254CT325780Likely_benignRetinal_degeneration|Microphthalmia,_isolated_60.567290.595090.635580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862430298711119217311GA324926Likely_benignRetinal_degeneration|Microphthalmia,_isolated_6..0.583870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862580280811119510644AC791116BenignCleft_lip/palate-ectodermal_dysplasia_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862622596711120663363TC227821drug_responsenot_specified|antidepressants_response_-_Efficacy..0.50220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86274531511120996292AG54482Benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.770690.711650.772170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86284531911120998942CT54486Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.257380.308750.31030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86294532311121000784TC54490Benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.746310.70410.75140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86304533611121032978GA54503BenignDeafness,_autosomal_dominant_12|not_specified|...0.992080.992670.996811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86314533811121038810CT54505Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.098820.168960.18530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863230305711121178302AC312876BenignLathosterolosis..0.724641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863330307011121179847AT318905BenignLathosterolosis..0.422130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863430309911121181848AG325089BenignLathosterolosis..0.156950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863530310811121183145TC318954BenignLathosterolosis..0.393370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863667183811123504673CG664951Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863767095011123504959CG665579Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863867183711123505099CT664953Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863926102811123513161GA254022Benign/Likely_benignBrugada_syndrome|not_specified|Cardiovascular_...0.090220.08960.082070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864067431611123513512GA664964Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864176849311123894136AG701641Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864230326211124747837GA326080BenignGaze_palsy,_familial_horizontal,_with_progress...0.72880.678530.631991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864330327911124750447CCGGAGTC325249BenignGaze_palsy,_familial_horizontal,_with_progress......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864430328911124789232AAAAAC313075BenignMegalencephalic_leukoencephalopathy_with_subco......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864530329511124789755TC326092BenignMegalencephalic_leukoencephalopathy_with_subco...0.754810.737120.798921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864630331911124790922CA326109BenignMegalencephalic_leukoencephalopathy_with_subco.....0.18850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864726268211124792627GA254025BenignMegalencephalic_leukoencephalopathy_with_subco...0.153920.106350.142970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864826268111124793682TC254026BenignMegalencephalic_leukoencephalopathy_with_subco...0.751920.728610.793931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864926268011124793716GA254027BenignMegalencephalic_leukoencephalopathy_with_subco...0.22262.0.135981/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865038726911125462830AG372271Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865138001211125465862TC372052Benignnot_specified0.115690.07450.104630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865238001311125465905GT372273Benignnot_specified0.075460.059930.058310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865338001411125476252CG373936Benignnot_specified0.115.0.103630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865438001511125479363GA372061Benignnot_specified0.412690.36940.419331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865538003111125479496CT373938Benignnot_specified0.289850.296280.308310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865638001611125482650GA373944Benignnot_specified0.075690.059810.057510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865738001711125488404CT372289Benignnot_specified0.122690.076290.111220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865849613911125525195AG487497Benignnot_provided0.973850.97260.985821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865930334711125753589CT319169BenignHydrolethalus_syndrome..0.854431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866030335111125761318GGTT313115BenignHydrolethalus_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866130336811125770425AC319178BenignHydrolethalus_syndrome..0.169130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866236894211125826702GA353171BenignHoloprosencephaly_sequence..0.49721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866330337411125826785GA326221Likely_benignHoloprosencephaly_sequence..0.240220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866430337811125826953AC313133BenignHoloprosencephaly_sequence..0.272561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866530337911125826975CA325340Likely_benignHoloprosencephaly_sequence..0.032551/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866630339711125828007TC326250BenignHoloprosencephaly_sequence..0.505591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866730340011125828097AG313146BenignHoloprosencephaly_sequence..0.518570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866830345011125828904TC325385BenignHoloprosencephaly_sequence..0.495010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866930348111125830227AAT326386Uncertain_significanceHoloprosencephaly_sequence...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867030348811125830697TC319273Likely_benignHoloprosencephaly_sequence..0.242411|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867126079911125830970AT254031BenignHoloprosencephaly_sequence|Holoprosencephaly_1...0.730.73099.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867226079711125831701GA254033BenignHoloprosencephaly_sequence|not_specified0.25308.0.242210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867326079311125848261CT254035BenignHoloprosencephaly_sequence|not_specified0.356460.414290.399560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867426079211125851055AG254036BenignHoloprosencephaly_sequence|not_specified0.3340.258170.268170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867526079111125851181GA254037BenignHoloprosencephaly_sequence|not_specified0.334.0.267570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867626078811125864326TC254040Benignnot_specified0.294460.327450.31211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867726078611125867053GT254042Benignnot_specified0.92085.0.941491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867826078411125871735CT254044BenignHoloprosencephaly_sequence|not_specified0.345390.312690.302520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867919372411125873968CG190887Conflicting_interpretations_of_pathogenicityHoloprosencephaly_sequence|not_provided0.000540.00062.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868030351711125875959GGAGAG319328Uncertain_significanceHoloprosencephaly_sequence...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868126079411125891103CCA254054Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86829575311125891162AG101650Benign/Likely_benignHoloprosencephaly_sequence|Holoprosencephaly_1...0.040540.037120.026360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86839575211125891269CT101649BenignHoloprosencephaly_sequence|not_specified0.645150.557320.572280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868430353211126139100TC313196BenignMitochondrial_complex_I_deficiency|not_provided0.694880.789070.786141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868567808911126141134AAAAGG665832Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868630354711126147697GA313203Likely_benignMitochondrial_complex_I_deficiency..0.131390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868725767311126277216CT254057Benignnot_specified0.319360.316180.346250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868825767411126278075CT254058Benignnot_specified0.317590.313950.344850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868912942511126294817GA134871Likely_benignnot_specified0.664830.671280.703670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869012942711126391297TG134873Likely_benignnot_specified0.279950.270420.224840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869130355311128707975GC325499BenignAntenatal_Bartter_Syndrome..0.164340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869230355411128708009GA313219BenignAntenatal_Bartter_Syndrome..0.157350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869330355611128708344TC313220BenignAntenatal_Bartter_Syndrome..0.166530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869430356111128708518CCTTG313240BenignAntenatal_Bartter_Syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869530356711128708947TA326461BenignAntenatal_Bartter_Syndrome..0.166530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869613799011128781339TC141693BenignRomano-Ward_syndrome|Familial_hyperaldosteroni...0.848260.843560.869811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869713799111128781978TG141694BenignRomano-Ward_syndrome|Familial_hyperaldosteroni...0.842720.841440.866211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869813799211128782002TC141695BenignRomano-Ward_syndrome|Familial_hyperaldosteroni...0.843950.841590.867011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869913799311128782012CG141696BenignRomano-Ward_syndrome|Familial_hyperaldosteroni...0.987070.986480.995011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870067220611128782214GA665653Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870113799511128786294GA141698BenignRomano-Ward_syndrome|Familial_hyperaldosteroni...0.747850.73460.735821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870230364011128787001TTC325560BenignRomano-Ward_syndrome|Familial_hyperaldosteronism...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870330364111128787036CT313305BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.87521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870430364811128787405GT313312BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.155951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870530364911128787430GT325562BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.735421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870630365211128787554CT326565BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.854231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870730366011128787689GA326575BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.682311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870830366811128787963ACA319444BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.739821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870977667911129801022TC701660Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871051823711130064647GA508861BenignIchthyosis,_congenital,_autosomal_recessive_110.770470.843270.832870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871151823811130066335CT508862BenignIchthyosis,_congenital,_autosomal_recessive_110.568650.690450.638980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871231053312862641TG318492BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.339861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871326106912862989TC254719BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.97240.992390.975641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871413792712863152GA141630BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.08020.163330.074480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871567058912863517GA666857Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871667059012936468CG666860Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871768129012938910TA667225Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871826106612939302AG254728BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.685530.745090.693491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871967030312966097AG667226Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872067030412966124TC666864Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872113792212968400CA141625BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.113680.149230.093451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872213792312968489TC141626BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.115430.148760.093451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872326106712987482GA254731BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.67953.0.679511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872421853312987533CCT215458Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872553853112988558CT527667BenignPseudohypoaldosteronism_type_2C|Hereditary_sen.....0.528951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872613792612994014CT141629BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.11180.155420.115821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872726107212994487GC254767BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.986080.996340.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872867030912996205AT666189Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872967031012999762AG666984Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8730670311121003978TC666998Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8731261074121017197CT254769BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.986160.996430.987021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8732306711121019944GA333103BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.987221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8733306723121020266TC333107BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.119211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8734307801121901392TTCTC331332BenignCone_dystrophy_3...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8735307803121901434CT329967BenignCone_dystrophy_3..0.3741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8736307806121901485GT331342BenignCone_dystrophy_3..0.37461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8737307811121901618CGC331346BenignCone_dystrophy_3...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8738307819121902164CT323961BenignCone_dystrophy_3..0.37221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8739307828121902766TG331357BenignCone_dystrophy_3..0.383991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8740262820121995403TC254464BenignCone_dystrophy_3|not_specified0.91647.0.93711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8741683258122162369GA665591Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8742683259122163032GA666235Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8743695132122224063CG685312Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
874493412122558186GA99319BenignBrugada_syndrome|Timothy_syndrome|History_of_n...0.17570.207370.120411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8745671977122558475GA666491Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8746683261122558567TC665692Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8747683274122595011AC666364Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8748671970122602179GA665693Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8749683275122613329AG666496Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8750671783122613521AG665698Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8751764556122656887TG775881Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8752695133122659044TGT685328Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8753764565122659622GA776028Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8754764686122659942CT775962Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8755764557122660096CG775888Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8756671798122666348AG666499Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8757683263122666407TA666380Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8758671799122676683CT666393Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8759683270122677264AG665735Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8760671800122690702GA666510Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8761695135122691260CG685335Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8762670939122692186TG665737Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8763671801122706720GC665749Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8764794112122750621CT787803Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8765764840122751125GA775834Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8766683271122757371AC666773Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8767671806122757756TC666775Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8768671807122757769TC666531Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8769671808122757782CT665763Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8770676054122757885CT666413Benign/Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8771673265122760508GA666423Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8772670958122760708GA666426Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8773670940122760970GA665766Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8774695136122764001GA685362Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8775671809122773855GA666431Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8776670934122774668CA665770Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8777673266122777768AG666436Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8778669624122778504GGA666783Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8779671810122783476TC666785Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8780671811122783972TC666786Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
878193413122788879GA99320BenignBrugada_syndrome|Timothy_syndrome|History_of_n...0.581120.695280.526360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8782136640122791205AG140343Benignnot_specified0.999810.999911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8783671813122798151GA666796Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8784308169122800649CT330335BenignBrugada_syndrome|Timothy_syndrome|not_provided..0.883391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8785308174122801016CCGCCGCCGGGAAGGG330349BenignBrugada_syndrome|Timothy_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8786308236122804638AG324323BenignBrugada_syndrome|Timothy_syndrome..0.948281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8787308251122805196TA330445BenignBrugada_syndrome|Timothy_syndrome..0.771171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8788308267122806335AC316806BenignBrugada_syndrome|Timothy_syndrome..0.966851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8789678294124383036CT656161Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8790380772124388084CG375127Benignnot_specified0.32631.0.219850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8791308779124478080TA324849BenignTumoral_calcinosis,_hyperphosphatemic,_familia.....0.204671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8792308803124479549GA330952BenignTumoral_calcinosis,_hyperphosphatemic,_familia...0.105340.123880.147360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8793138447124768193AT142150Benignnot_specified|not_provided0.270920.246290.224040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8794138448124768354AC142151Benignnot_specified0.633730.718570.706070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8795671789124768511AG666700Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8796682711124768577GA666628Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8797682712124768619AG666955Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8798682713124771431AG666635Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8799671790124771456GA665961Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8800138449124771682GA142152Benignnot_specified0.368980.425130.346850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8801682714124778627AG666708Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8802682725124791673AG666965Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8803682728124794733AG666968Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
880421130125021348GC33982BenignEpisodic_ataxia|Myokymia|not_specified|not_pro...0.50346.0.533350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8805129313125021984TA134759BenignEpisodic_ataxia|Myokymia|Episodic_ataxia_type_...0.74250.738520.820490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8806258594125154462TC254607Benign/Likely_benignAtrial_fibrillation,_familial,_7|Familial_atri...0.9847.0.981031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8807309342125155663AT333135Likely_benignFamilial_atrial_fibrillation..0.219050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8808440406126058913GA433116Benignnot_specified0.105260.079260.100040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8809440405126058920AG433117Benignnot_specified0.105950.079450.101040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8810256704126060960GA254648Benignnot_specified0.140170.135090.116810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8811256703126061069TG254649Benignnot_specified0.186220.194960.162341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8812256702126061559CT254650Benign/Likely_benignvon_Willebrand_disorder|not_specified0.04490.059340.044730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8813256696126091000AG254656Benign/Likely_benignvon_Willebrand_disorder|not_specified0.843920.868710.825081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8814256695126091164GA254657Benign/Likely_benignvon_Willebrand_disorder|not_specified0.249730.335410.303321|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8815256693126094845GA254659Benign/Likely_benignvon_Willebrand_disorder|not_specified0.76711.0.700681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8816256688126105387GA254663Benign/Likely_benignvon_Willebrand_disorder|not_specified0.356070.457660.456070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8817256661126145529GA254687Benignnot_specified0.697220.70290.75320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8818256658126153659GT254690Benignnot_specified0.46393.0.530750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8819256657126161963GGAGA254691Benign/Likely_benignvon_Willebrand_disorder|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8820256654126172202TC254694Benign/Likely_benignvon_Willebrand_disorder|not_specified0.50861.0.518771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8821619927126234889CT611318Benignnot_provided..0.443690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
882237038126440009TC45724Benign/Likely_benignMultiple_sclerosis,_susceptibility_to,_5|not_s...0.387590.362120.299721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8823257326126450945TC254705Benign/Likely_benignnot_specified|Familial_Periodic_Fever0.404120.37550.301521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8824675609126451590AC667205Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8825165164126457062TC175889BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.76286.0.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8826165165126464581CT175749BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.17630.089870.192290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8827402517126560473AG390154Benignnot_specified0.99170.992610.99741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8828402518126560573GT390068Benignnot_specified0.40964.0.360020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8829675808126954624GA667211Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8830226004126954875CT227813drug_responsesildenafil_response_-_Efficacy|not_provided0.449790.359770.492210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8831310372126980075GGA326542Uncertain_significanceTriosephosphate_isomerase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8832310415127342636TA318422Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.036541|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8833310452127363574CG334493BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.432110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8834261353128757481GA254729BenignImmunodeficiency_with_hyper_IgM_type_2|not_spe...0.549350.590430.484231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8835261352128759445CT254730BenignImmunodeficiency_with_hyper_IgM_type_2|not_spe...0.540150.532330.632590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8836369029128765447TC353258BenignImmunodeficiency_with_Hyper-IgM0.99496.0.995411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8837381191128808006TC375428Benignnot_specified0.404740.416530.429310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8838674904128808222CT667237Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8839561550128975605AG552696Benignnot_provided..0.358031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8840384687128975901CT372586Benignnot_provided0.045520.089180.130190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8841561804128976764AG552698Benignnot_provided..0.617010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8842561805128976780TC552699Benignnot_provided..0.361220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8843561806128987550TC552702Benignnot_provided..0.909351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8844561551128988403AC552706Benignnot_provided..0.948881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8845561807128988542CG552707Benignnot_provided..0.948481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8846561539128988777AG552709Benignnot_provided..0.846051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8847561552128989916AG552711Benignnot_provided..0.853441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8848561533128990813AG552713Benignnot_provided..0.856431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8849561553128991246CT552714Benignnot_provided..0.826481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8850561534128991970GA552716Benignnot_provided..0.826881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8851561535128991998CA552717Benignnot_provided..0.932911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8852561809128992122CCT552718Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8853561810128992130TAGAT552719Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8854561520128994212TC552720Benignnot_provided..0.934311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8855561521128995523CG552722Benignnot_provided..0.432111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8856383777129004512GA373491Benignnot_provided0.807820.870030.868211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8857561554129004667GC552737Benignnot_provided..0.516370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8858561555129007031CG552739Benignnot_provided..0.513780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8859561527129008318GC552742Benignnot_provided..0.512980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8860561568129013329GA552747Benignnot_provided..0.116210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8861384669129013755CT373500BenignOtitis_media,_susceptibility_to|not_provided0.301650.432110.432310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8862561569129016665GC552752Benignnot_provided..0.100040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8863384670129020489AG375466Benignnot_provided0.777460.859110.852641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8864384671129020912AG373525Benignnot_provided0.746480.735210.677720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8865561565129021256CT552762Benignnot_provided0.444660.412670.404550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8866561570129021430GC552764Benignnot_provided..0.18930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8867561566129021525CA552765Benignnot_provided..0.404350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8868211899129083336AG208005Benignnot_specified.0.73354.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8869769813129317885GA702542Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88705902871210251445CG581228risk_factorAspergillosis,_susceptibility_to0.885820.767920.670531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88714025431210271055TC390101Benignnot_specified0.859830.741490.640581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88723076581212870695TC331119BenignMultiple_endocrine_neoplasia|Multiple_endocrin.....0.661741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88733077181213714729TC323803Likely_benignIntellectual_Disability,_Dominant..0.891371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88743077231213715308AC331211Likely_benignIntellectual_Disability,_Dominant..0.274961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88751292041213716638GA134650Benign/Likely_benignHistory_of_neurodevelopmental_disorder|not_spe...0.40151.0.24760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88766760421213720422AG666226Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88776816471213723127TC666625Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88781292001213764774GA134646Benign/Likely_benignHistory_of_neurodevelopmental_disorder|Mental_...0.28010.264660.19010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88791375161213828659TC141219Benignnot_specified0.154930.157660.103831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88801292051214018777GC134651Benign/Likely_benignHistory_of_neurodevelopmental_disorder|not_spe...0.43103.0.441490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88814029151214781678GGA390540Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88824029161214794062GA390087Benignnot_specified0.819620.941090.823481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8883177301214993439CT32769AffectsBlood_group,_Dombrock_system.0.349030.292730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88843077591215034521TA331251BenignKeutel_syndrome..0.324080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88852843691215035081TC268606BenignKeutel_syndrome|not_specified0.437260.379960.385380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88863077731215037187TTA331322BenignKeutel_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88873077761215038788CT323908BenignKeutel_syndrome0.341.0.262180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88883078841220966548CT316532BenignRotor_syndrome..0.697090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88894402871220968665GTTTAG433930Benignnot_provided.0.219890.184110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88902611841221011480TG254467BenignRotor_syndrome|not_specified0.722930.804460.702481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88912611851221013948CT254468BenignRotor_syndrome|not_specified0.722240.806560.702281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88922611861221015760GA254469BenignRotor_syndrome|not_specified0.722820.804360.702481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88938107341221017875TC798983BenignGilbert's_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88943078961221028208GC316533Benign/Likely_benignRotor_syndrome|not_specified0.114330.113160.065690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88952611831221036411AG254470BenignRotor_syndrome|not_specified0.723050.804680.702881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88964402861221054369GA433929Benignnot_specified0.712360.818210.678711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88978107351221074122CT798984BenignGilbert's_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88982259951221283322GA227775drug_responsepravastatin_response_-_Efficacy..0.054710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88992599831221329738AG254471Conflicting_interpretations_of_pathogenicityGilbert's_syndrome|Rotor_syndrome|not_specifie...0.526290.479490.62241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8900373461221331549TC40587drug_responsesimvastatin_acid_response_-_Metabolism/PK|Gilb...0.114950.129430.087660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89012599851221331625CT254473BenignRotor_syndrome|not_specified0.448950.385140.415541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89023756561221382619TC362505drug_responsemethotrexate_response_-_Toxicity/ADR..0.219251|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89033079591221391976AC331512Likely_benignRotor_syndrome0.058450.046320.044330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89043079671221392562TG324112BenignRotor_syndrome..0.447680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89053079691221392586AG331528BenignRotor_syndrome..0.448480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89066796951221624309AT665596Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89076796931221626324AC666651Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89086796911221626330CA665601Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89096796921221627557AC665603Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89106796891221627745AG666405Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89116796851221628812GA666661Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89126796831221629987TC666243Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89136796801221644667GA666685Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89146796781221654407GA656146Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89153079851221689736GA316625BenignHypoglycemia_with_deficiency_of_glycogen_synth.....0.531550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89162614691221692166CAC254475Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89172614661221711111GC254478Benignnot_specified|not_provided0.717520.766120.715661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89182614641221712545AG254480Benignnot_specified0.740990.765710.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89191991621221712574CT196321BenignHypoglycemia_with_deficiency_of_glycogen_synth...0.74269.0.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89202614631221713308TA254481BenignHypoglycemia_with_deficiency_of_glycogen_synth...0.765190.789580.754591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89212614621221713402TC254482BenignHypoglycemia_with_deficiency_of_glycogen_synth...0.742730.768560.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89222614731221715989CT254484Benignnot_specified|not_provided0.182380.208740.176520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89233080191221791272TC316663BenignLactate_dehydrogenase_B_deficiency0.935410.980530.932511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89246724411221958399GC666416Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89256738271221970019CT666270Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89266811941221982281AG666716Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89276811931221994955GC665637Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89286811921221997121GC666314Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89292612161222005003TG254488Benignnot_specified|not_provided0.359660.388290.334670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89306811901222005771AG666744Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89316779191222014222TC666745Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89326730061222015768GA666437Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89333080371222016004GAG330167Benign/Likely_benignHypertrichotic_osteochondrodysplasia|Familial_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89346811891222016216AAGTTTGGTTTTCTACACTGAAGAAGTGTTTTATGGTCTAAACAACTA,AAATTTGGTTTTCTACACTGAAGAAGTGTTTTATGGTCTAAACAACT666443Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
89356738261222017157GC665667Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8936454021222017422AG54569Benign/Likely_benignHypertrichotic_osteochondrodysplasia|Familial_...0.998080.999520.99821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89376710571222035873CT665675Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89386738251222041044GGACAGAGGGGTTG666336Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89392612141222047151GT254490Benignnot_specified0.998080.999530.99781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89406811881222061432TC666749Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8941453861222063115AG54553Benign/Likely_benignCardiomyopathy|Hypertrichotic_osteochondrodysp...0.996460.998970.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89422612131222063737GT254491Benignnot_specified0.989690.996920.991611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8943453841222063749TC54551Benign/Likely_benignHypertrichotic_osteochondrodysplasia|Familial_...0.989770.996930.991611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89446811871222064188TC665679Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89456724361222066180CT665684Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8946454191222068849GT54586Benign/Likely_benignHypertrichotic_osteochondrodysplasia|Familial_...0.587940.61380.644771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89476811851222069114GT665689Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89486811841222078556TC666469Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89496811831222078571TA666472Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89502612171222078838TG254492Benignnot_specified0.638940.641510.701681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89516811821222079318GA666484Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89523080591225358650AT331607Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.548321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89533080621225358662CTTC316688Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89543080641225358828TG324167Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.548321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89553080651225358943TC330205Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.548521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89563080661225358969TG316694Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.433311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89573080751225359328AT316697Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.548121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89583080761225359352GA324182Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.548521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89593080771225359464TAT331627Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89603080821225359841TC316700Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.525561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89613080891225360449CCA316706Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89623081021225361091TC330231Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.99741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89633081181225362217AG324217Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome.0.635910.549121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8964404671225362552AC48937Benign/Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrom.....0.520571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89655618151225368084TC552690Benignnot_provided..0.547521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8966465381225368462CT55703BenignNoonan_syndrome_3|Rasopathy|not_specified0.998540.999540.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89674024251232481093GC390019Benignnot_specified0.188610.234080.264580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89688028321232552769CG791228BenignCharcot-Marie-Tooth_disease,_type_4H...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89693082871232735236CT331861BenignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.49892.0.467050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89706704781232754946TG666803Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89716704791232755058TA666454Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89726705091232755400TC666808Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89736801651232763474TG666566Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89743082971232772620CT316842Likely_benignCharcot-Marie-Tooth_disease_type_40.098110.09530.06510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89756687371232778296CT666815Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89763082991232778581TC330499Benign/Likely_benignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.132630.131770.140180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89776801681232778913GA666819Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89783083131232794615CT331882Likely_benignCharcot-Marie-Tooth_disease_type_4..0.066890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89793083221232795190CT330532Likely_benignCharcot-Marie-Tooth_disease_type_4..0.067090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89803083241232795295AT330549Likely_benignCharcot-Marie-Tooth_disease_type_4..0.067090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89813083271232795421AG331894BenignCharcot-Marie-Tooth_disease_type_4..0.741810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89823083361232796393ACTATA330561BenignCharcot-Marie-Tooth_disease_type_4...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89833083411232796597GA330563Likely_benignCharcot-Marie-Tooth_disease_type_4..0.067890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89843083511232797237GT331938BenignCharcot-Marie-Tooth_disease_type_4..0.433710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89853083551232797386TAT316862Likely_benignCharcot-Marie-Tooth_disease_type_4..0.066890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89863083611232797905AG330594BenignCharcot-Marie-Tooth_disease_type_4..0.496610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89873083661232798227CCT324449Uncertain_significanceCharcot-Marie-Tooth_disease_type_4...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89883083721232798458AG330604BenignCharcot-Marie-Tooth_disease_type_4..0.990221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89893083771232798665GA324459BenignCharcot-Marie-Tooth_disease_type_4..0.467650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89906784761232854151AG666458Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89916715511232854602GA666462Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89926786851232863700AG666837Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89936717801232865915CT665793Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89946761171232890685CT665808Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89956716451232890912TA666607Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89966805511232893715GT666478Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89976805761232895955GA665817Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89983084201232897647CCA332046Uncertain_significanceLethal_Encephalopathy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89996808491232900620TC665824Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90003084681232943795CA330718Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy..0.035740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90013084711232944087CG332116Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy..0.035740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90023084811232944414GT316934Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy..0.899161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9003450701232949029AAG54237Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopath...0.190290.21080.318290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90046724031232949427TC666873Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90056724021232955154GC666881Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90066724011232955642GA665867Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90076722091232955647CA666513Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90086724001232955675CG665870Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90092594411232974245CT254502Benignnot_specified0.766490.712680.591650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90106743011232993822AG666893Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90116696221233049157CT666640Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90123690151233049781GA353244Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy..0.332470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90136839831233049929CT666899Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90143085371239687754TC324579BenignCongenital_fibrosis_of_the_extraocular_muscles..0.381990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90153085421239687989TC330788BenignCongenital_fibrosis_of_the_extraocular_muscles..0.382190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9016391921240631791TC47798BenignParkinson_disease_8,_autosomal_dominant0.529060.526260.452881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90173086131240645257CA324683BenignParkinson_disease_8,_autosomal_dominant0.318180.362210.319490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90183086171240681142CCT330850BenignParkinson_disease_8,_autosomal_dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9019391971240713834CA47803BenignParkinson_disease_8,_autosomal_dominant0.68590.678090.682911/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9020392011240713901TA47807Likely_benignParkinson_disease_8,_autosomal_dominant0.257740.298270.285940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9021392091240716260TC47815BenignParkinson_disease_8,_autosomal_dominant0.553440.573310.585260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9022392221240742254GA47828Likely_benignParkinson_disease_8,_autosomal_dominant0.256080.300130.273760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90233086471240758652TC324716BenignParkinson_disease_8,_autosomal_dominant|not_pr...0.612270.623980.551720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90243086561240761931AC317030BenignParkinson_disease_8,_autosomal_dominant..0.551320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90253086571240761951CT332384BenignParkinson_disease_8,_autosomal_dominant..0.551520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90263086621240762303GC317036BenignParkinson_disease_8,_autosomal_dominant..0.551320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90273086681240762546TC330896BenignParkinson_disease_8,_autosomal_dominant..0.551320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90286799191241312365AT665885Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90296799211241318169GT666660Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90306799221241318620TC665889Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90316791531241323480CT665893Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90326791561241330531TC665894Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90336791521241331612TC665902Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90341287911241337435CT134240Benignnot_specified0.621580.619250.571490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90356791621241386743AT665913Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90366791641241387110CG666564Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90376816511241414357AC666908Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90386816521241463680CT666911Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90396799261241463689TC666923Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90403086831242852328CA332405BenignProgressive_myoclonus_epilepsy_with_ataxia..0.969651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90413086921242853058GTG324780Uncertain_significanceProgressive_myoclonus_epilepsy_with_ataxia...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90423086941242853084CA324781BenignProgressive_myoclonus_epilepsy_with_ataxia.0.246710.300120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90433087001242853520AG324798BenignProgressive_myoclonus_epilepsy_with_ataxia..0.721051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9044965061242854205AG102400BenignSeizures|Progressive_myoclonus_epilepsy_with_a...0.435260.438460.429310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90451300241242854208AG135470BenignSeizures|Progressive_myoclonus_epilepsy_with_a...0.299860.345910.270570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90466680461242858029CG665929Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90476680451242862305GC666587Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90486749351242862750TG666933Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90496686021242863636AAC666944Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90506686001242863801GA665932Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90516685991242866065AG665952Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90523087411244181141AG332517Likely_benignIRAK4_deficiency..0.024160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90533088281248236386TA317210Likely_benignVitamin_D-Dependent_Rickets..0.543331/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90543088401248236550GC332585BenignVitamin_D-Dependent_Rickets..0.978241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90553088411248236623GT331058Likely_benignVitamin_D-Dependent_Rickets..0.50260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90563088421248236664CT332589Uncertain_significanceVitamin_D-Dependent_Rickets..0.005391/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90573088621248238068CA331077Likely_benignVitamin_D-Dependent_Rickets..0.128790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90583088681248238221GT332607Likely_benignVitamin_D-Dependent_Rickets..0.494210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90593088871248272895AG331088drug_responsepeginterferon_alfa-2b_and_ribavirin_response_-...0.673150.637560.671531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90603088891248293605CG317255Likely_benignVitamin_D-Dependent_Rickets..0.165140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90613088911248293716GT331092Likely_benignVitamin_D-Dependent_Rickets..0.166130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90626750271248368989AC666974Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90638028421248373718AAC791239BenignStickler_syndrome_type_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90646748571248374513AG666656Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90656748561248374826TG667018Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90666748431248375475CG666658Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9067937871248375568AG99689Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.452790.489630.482831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90686748421248375965CT666662Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90692582261248375975AG254539Benignnot_specified|not_provided0.421420.390020.473241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90702582251248376291GA254540Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.386820.395830.429711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90716748401248376503CT667026Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90726748391248376530CA666663Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90732582191248377970AG254547Benignnot_specified|not_provided0.765960.752220.683111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90746748371248379810GA666666Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90756748361248379856TC667048Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90765855061248379961AC577262Benignnot_provided..0.484030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90775855051248379964AG577263Benignnot_provided..0.483830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90785855071248380031AG577264Benignnot_provided..0.486020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90792582101248380682GA254555Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.207670.1960.203670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90806833441248381756GC667055Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90816778681248383797GT666003Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90826778671248383814GA666779Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90836749821248386553AG666782Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90846749811248386577GT666668Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90856778551248387025TA666007Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90866778541248387052AC666015Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90876778531248388830CT666671Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90886778521248388856AC666677Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90896750251248388995TCT666679Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90902582441248389023CT254562Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.267650.293450.160740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90912582431248389643AC254563Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.820850.748930.682711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90926833391248390080TC666683Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90932582411248390435AT254565Benignnot_specified0.023760.024820.010980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90946687111248391055GA667058Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90956689531248391094CT666018Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90966689471248391127CT666687Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90971984711248391416GT195632Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.20145.0.219250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90986778451248392433AG666689Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90996710121248393444CT666020Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91006778511248393526GA667068Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9101937911248398002GC99693Benignnot_specified0.784250.771240.68591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9102937881248398080TA99690Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.789150.772560.68531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91033089411248398223GA317278Benign/Likely_benignType_II_Collagenopathies|Stickler_Syndrome,_Do.....0.727641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91046748341248398350CA667074Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91056834901248524804AG666021Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91062557631248527186CT254572BenignGlycogen_storage_disease,_type_VII|not_specifi...0.197220.148540.18790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91076696511248527715CT666036Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91086761711248528419TC666037Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91096834931248531917TA666041Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91106678471248534288TG667100Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91112557541248537624AG254583Benignnot_specified|not_provided0.810470.735220.645371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91122557581248539482TG254587BenignGlycogen_storage_disease,_type_VII|not_specifi...0.29248.0.204270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91134025011249308284AG390097Benignnot_specified0.307470.369880.30991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9114886851249312533GTAG94265Likely_pathogenicPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91154025021249312593AG390144Benignnot_specified0.30632.0.307711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91164025031249314862CA390099Benignnot_specified0.305320.369710.308311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91174025041249314994AG390145Benignnot_specified0.306170.369230.308111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91185049171250348078TC497419Benignnot_specified0.69330.759270.667131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91193092411250349765CT317502BenignNephrogenic_diabetes_insipidus..0.352640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91203092551250350953TC317523BenignNephrogenic_diabetes_insipidus..0.888781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91213092571250351075TC333084BenignNephrogenic_diabetes_insipidus..0.481230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91223092591250351148AG333088BenignNephrogenic_diabetes_insipidus..0.227640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91233092631250351679TTCTCT331609BenignNephrogenic_diabetes_insipidus...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91243092641250351886AG331612BenignNephrogenic_diabetes_insipidus..0.885181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91253092741250352559TC317541BenignNephrogenic_diabetes_insipidus..0.234230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91263092811251380232AG331638BenignAnemia,_hypochromic_microcytic,_with_iron_over....0.425360.43811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91273092901251381077CT317582BenignAnemia,_hypochromic_microcytic,_with_iron_over....0.918580.896771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91283093071251382232TC331680BenignAnemia,_hypochromic_microcytic,_with_iron_over...0.895360.934210.895971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91293093231251404467CT325455BenignAnemia,_hypochromic_microcytic,_with_iron_over...0.470860.452510.31191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91303093281251420164CA333177BenignAnemia,_hypochromic_microcytic,_with_iron_over....0.918060.896771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91311302531252080965CT135700BenignHistory_of_neurodevelopmental_disorder|not_spe...0.800150.836690.784941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91326706861252099153CT667114Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91336693621252163248AG666047Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91342603521252163789GA254609Benignnot_specified0.75490.791470.707471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91356842701252164027GA666831Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91366705261252174301GT666833Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91376705401252180118GA666750Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91386708441252182452CT666055Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91391390731252182545AG142776Benignnot_specified|Early_Infantile_Epileptic_Enceph...0.066520.140.160140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91406842721252183485CT666841Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91411302471252184271TC135694BenignHistory_of_neurodevelopmental_disorder|not_spe...0.62560.650010.503790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91426708451252184342AG667128Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91436688511252184540TC666057Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91446688531252184585GA666059Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91451302511252200742CA135698BenignHistory_of_neurodevelopmental_disorder|not_spe...0.60655.0.489020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91463093811252202024TC331755BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto.....0.163140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91473094071252204246TC331784BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto....0.753650.838461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91488109061252306027CG799691BenignHereditary_hemorrhagic_telangiectasia_type_2...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91491362931252307145CT139996BenignHereditary_hemorrhagic_telangiectasia_type_2|H...0.472860.426330.431110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91502547101252307308AG254610BenignHereditary_hemorrhagic_telangiectasia_type_2|n...0.478180.457750.43670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91514393761252307963TCAGAATTGGAATTCTGCTGGGT433105BenignHereditary_hemorrhagic_telangiectasia_type_2|n......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91522547091252312944TC254616Benign/Likely_benignHereditary_hemorrhagic_telangiectasia_type_2|n...0.324930.284290.343450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91534393731252312964AG433114BenignHereditary_hemorrhagic_telangiectasia_type_2|n....0.307610.343250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91548109071252314138AG799705BenignHereditary_hemorrhagic_telangiectasia_type_2...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91556784391252314295TG666850BenignHereditary_hemorrhagic_telangiectasia_type_2|n......1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91568116051252314327CT799708BenignHereditary_hemorrhagic_telangiectasia_type_2...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91578108561252314388TG799709BenignHereditary_hemorrhagic_telangiectasia_type_2...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91583094541252315237TC333309BenignHereditary_hemorrhagic_telangiectasia_type_1..0.342450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91593094671252315923TC333318BenignHereditary_hemorrhagic_telangiectasia_type_1..0.699681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91603094771252316603TC333333Likely_benignHereditary_hemorrhagic_telangiectasia_type_1..0.176720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91613094831252317057CG317733Likely_benignHereditary_hemorrhagic_telangiectasia_type_1..0.130990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91623094841252317075GA331852Likely_benignHereditary_hemorrhagic_telangiectasia_type_1..0.142570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9163665451252682141GA77442not_providednot_provided0.22605.0.18730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91643094891252708241GA331858BenignBeaded_hair..0.710860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91653094941252708420GA333362BenignBeaded_hair0.749070.699840.736220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91663094991252708565AG325618BenignBeaded_hair0.72671.0.711460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91673095211252711450TC333400BenignBeaded_hair0.731050.666260.717850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9168665461252712975GA77443BenignBeaded_hair|not_provided0.319310.323130.362620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
916918911252827608CT16930risk_factorPseudofolliculitis_barbae,_susceptibility_to|n....0.123080.143170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91707685471252863621TG702366Likely_benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91713095501252908473GA331909BenignEpidermolysis_bullosa_simplex..0.129190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9172662241252908872CT77121BenignEpidermolysis_bullosa_simplex|not_specified|no...0.151230.13440.128790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9173662231252908917TC77120BenignEpidermolysis_bullosa_simplex|not_specified|no...0.173070.13940.151760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9174661981252911401TG77095BenignEpidermolysis_bullosa_simplex|not_specified|no...0.151620.130.128590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9175662831252912768CT77180BenignEpidermolysis_bullosa_simplex|not_specified|no...0.15193.0.12760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9176662821252912870AG77179BenignEpidermolysis_bullosa_simplex|not_specified|no...0.151740.130290.1280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91772560441252912959GA254617BenignEpidermolysis_bullosa_simplex|not_specified0.16339.0.138180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91782560431252913730GA254618BenignEpidermolysis_bullosa_simplex|not_specified0.078350.072180.068490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91793095811252914211TC333460BenignEpidermolysis_bullosa_simplex..0.105230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91803096161253044267CT331979BenignIchthyosis_bullosa_of_Siemens0.11164.0.072080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91813096261253045777GA317855BenignIchthyosis_bullosa_of_Siemens0.35845.0.278160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91823096371253069014TC333512BenignNonepidermolytic_palmoplantar_keratoderma|Bull...0.223360.305070.275560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9183666231253070145GA77520BenignNonepidermolytic_palmoplantar_keratoderma|Bull...0.470090.443440.425521|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9184666671253071382AC77564not_providednot_provided0.38641.0.288540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9185666661253071560AG77563not_providednot_provided0.470090.444030.425520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9186665161253200584TC77413BenignWhite_sponge_nevus_of_cannon|not_provided..0.837061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91873096711253201413TC325795BenignWhite_sponge_nevus_of_cannon0.82162.0.837861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91883096871253204614CT333549BenignWhite_sponge_nevus_of_cannon0.835680.831730.823481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91897685511253207583CCCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG702383Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9190665351253294381TC77432not_providednot_provided0.485850.553010.567490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91911282521253703021GA133701BenignGlucocorticoid_deficiency_with_achalasia|not_s...0.906270.974540.915341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91923097471253720494GA325888Uncertain_significanceOsteogenesis_Imperfecta,_Recessive..0.003390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91933097511253720718CCTTGAT325889BenignOsteogenesis_Imperfecta,_Recessive...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91942857791253722098AG270016BenignOsteogenesis_imperfecta_type_12|not_specified|...0.952290.986640.961261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91952857781253722128GA270015BenignOsteogenesis_imperfecta_type_12|not_specified|...0.899410.958210.895571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91966676261253723368GA666759Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91971292971256078872GA134743Conflicting_interpretations_of_pathogenicitynot_specified|Congenital_Muscular_Dystrophy,_I...0.004850.004660.00240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9198940471256092668CT99949Conflicting_interpretations_of_pathogenicityMuscular_dystrophy,_congenital,_due_to_integri...0.03852.0.015580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9199940461256092682CT99948Benign/Likely_benignnot_specified|Congenital_Muscular_Dystrophy,_I...0.05943.0.034941|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92002588571256115585CT254633Benign/Likely_benignPigmentary_retinal_dystrophy|not_specified0.157390.195220.152760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92011303831256398454GC135830BenignSulfite_oxidase_deficiency|not_specified0.73581.0.75221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92023098571256435929CG318056BenignDiamond-Blackfan_anemia|not_specified0.46494.0.555911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92033098631256843825CCA325984BenignCataract...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92043098661256843893GT325987BenignCataract..0.322090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92053098711256844349CT318063BenignCataract..0.269170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92063098751256844559AG325992BenignCataract..0.853040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92073098831256844970AC333746BenignCataract..0.972241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92082601691256848079CT254635Benign/Likely_benignCataract|Cataract_15,_multiple_types|not_speci...0.018990.02530.021960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92097685551257080664CATC702431Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92102264081257441501CA228212Likely_benignDeafness,_autosomal_dominant_48|Nonsyndromic_H...0.001540.002870.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92117743281257573272CT702442Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
921211891257870155AC16228Uncertain_significanceCoronary_artery_spasm_3,_susceptibility_to0.48939.0.370211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92136828531257968738GA666097Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92146828561257975570AG666891Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92156828581257976168GA666798Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92163099751258142004TAT332311Uncertain_significanceCutaneous_Malignant_Melanoma,_Dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92176786341258186595AG666914Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92181982061264202890CG195367Benignnot_specified.0.13708.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92194035221264875787TA390062BenignGlaucoma_1,_open_angle,_p|not_specified|not_pr...0.439720.481420.353241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92203101751265108160GC332553BenignSanfilippo_syndrome..0.606431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92213101841265109168CT334206BenignSanfilippo_syndrome..0.593851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92223101981265110141GA332602BenignSanfilippo_syndrome..0.715661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9223940291265146532CT99931BenignSanfilippo_syndrome|Mucopolysaccharidosis,_MPS...0.69322..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92243102191265563712CT326356Benign/Likely_benignDermatofibrosis_lenticularis_disseminata|not_s....0.203490.083270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92253102221265563754CT332656Likely_benignDermatofibrosis_lenticularis_disseminata0.001740.074260.048120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92263102551265641261GA332686Likely_benignDermatofibrosis_lenticularis_disseminata..0.047920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92273102771266741537ATA326419BenignFraser_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92283102901266742183AG332712BenignFraser_syndrome_1..0.503791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92292614111266786073AG254710BenignFraser_syndrome_1|not_specified0.97822.0.974641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92302614101266786091GC254711BenignFraser_syndrome_1|not_specified0.889580.949380.843651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92312614091266814487CA254712BenignFraser_syndrome_1|not_specified0.521420.561560.422320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92322614131266909389CT254713BenignFraser_syndrome_1|not_specified0.68520.652310.717051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92336952971269202326CT685383Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92343103351269747177CT332755BenignFamilial_visceral_amyloidosis,_Ostertag_type..0.919931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92353103541269747834CT318410BenignFamilial_visceral_amyloidosis,_Ostertag_type..0.468651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92363103861272372862AG326588Likely_benignTryptophan_5-monooxygenase_deficiency0.581890.564660.541731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92373103881272416235AT332804Likely_benignTryptophan_5-monooxygenase_deficiency0.56620.573190.487221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9238357521276741341CT44416Benign/Likely_benignBardet-Biedl_syndrome_1|not_specified|not_prov...0.007920.008370.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92396693841280613584TC667213Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92402269341280672064AG230375Benignnot_specified.0.698540.683310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92415018901280707236TA493314Benignnot_specified0.193370.217470.183310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92422269441280712420GA230391Benignnot_specified0.972870.96180.948481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92432269491280730561CTC230398Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92442269521280735771TC230404Benignnot_specified0.529520.615080.494811|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92452269561280747209CG230408Benignnot_specified0.189540.223310.173320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92462269571280747242AG230409Benignnot_specified0.845380.853120.834071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92472269621280750659GA230414Benignnot_specified0.193220.182890.171530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92482269661280752660AG230419Benignnot_specified0.935840.940010.964461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92492269681280761411GT230422Benignnot_specified0.18908.0.169930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92502269691280761430GA230423Benignnot_specified0.717990.786830.678121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92512269701280761465GA230424Benignnot_specified0.941240.945390.968651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92522269721280765800AG230426Benignnot_specified0.496540.589320.484030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92532269761280771813GA230431Benignnot_specified0.722740.787420.683111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92546716331280862469AT666135Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92556825691280889829TA656185BenignDeafness,_autosomal_recessive_84|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92566825701280890325TTG666138Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92578052621280998917TC793449Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92583105111281102921TC334598BenignCentronuclear_Myopathy,_Dominant..0.458470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92593105161281103144AG326716BenignCentronuclear_Myopathy,_Dominant..0.458470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92606813491288448328TA667239Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92616786161288449096AG666884Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92621668281288454594TTA177569BenignJoubert_syndrome|Leber_congenital_amaurosis|Me......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92631262611288473049CT131793Benignnot_specified0.771260.884130.764581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92646680691288478082CT666942Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92652618451288478316TAT254744Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92666680671288480623GA666887Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9267961701288483272TAT102064BenignJoubert_syndrome|Leber_congenital_amaurosis|Me......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92686688861288494718CT667251Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92696680661288495290GC666174Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92701262531288496838CG131785Benignnot_specified0.77267.0.764581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92711262491288505078TC131781Benignnot_specified|not_provided0.77127.0.764581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92726786151288519401AG666952Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92736803771288522452TC667264Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92741668391288522823AAC177574BenignJoubert_syndrome|Leber_congenital_amaurosis|Me...0.870540.928390.87361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9275128111289328335TC27850AffectsSkin/hair/eye_pigmentation,_variation_in,_7..0.031750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92768028821289745477CA791287BenignHypogonadotropic_hypogonadism_19_with_or_witho......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92776772241289853408GA666195Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92787685701291372042GAG778133Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92796826901295387756CT667009Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92803106771296366698GA327068Likely_benignHistidinemia..0.352441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92813106791296366769TG327069BenignHistidinemia..0.453471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92823106951296367601TTAAAA333174Uncertain_significanceHistidinemia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92833107011296367900GT333182Likely_benignHistidinemia..0.177120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92843107091296374563TC334906BenignHistidinemia0.816160.839380.887181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92853107101296374614CT318725BenignHistidinemia0.842840.846830.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92863107191296387621AG333194BenignHistidinemia0.641310.564790.579670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92876840701298921343CT666200Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92886729591298921533GT667012Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92896729601298921574GT667016Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92906729611298925255TC667022Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92916712101298925650GT667284Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92923107851298928646AG334955Likely_benignDilated_Cardiomyopathy,_Dominant..0.133590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92936780431298994154GA667033Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
929430663712100813976AC322498BenignNonsyndromic_Hearing_Loss,_Dominant0.45970.48750.3770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
929536897712100815850TA353206Likely_benignNonsyndromic_Hearing_Loss,_Dominant..0.317290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
929612964412102064118TC135090BenignDistal_arthrogryposis|not_specified0.949950.954210.964461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
929730677312102139747TG330054Likely_benignI_cell_disease|Mucolipidosis,_Type_III_Alpha/Beta..0.078271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
929867199812102150878GC666005Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92999612112102154900AG102015BenignI_cell_disease|not_specified|Mucolipidosis,_Ty...0.596720.601460.69051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93009611912102158763TC102013BenignI_cell_disease|not_specified|Mucolipidosis,_Ty...0.562510.588510.651361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930167199612102162104CT666428Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930267199512102165083AG666183Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930367199412102173654TC666192Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930467199312102180228CT666430Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930567199212102182181GA666199Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930668406112102184071CT666013Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930730684012102790780AT328922BenignInsulin-like_growth_factor_I_deficiency..0.619011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930830688012102793569CT330185BenignInsulin-like_growth_factor_I_deficiency..0.426921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930930688612102793909CCT322907Uncertain_significanceInsulin-like_growth_factor_I_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931030689212102794515GA315820BenignInsulin-like_growth_factor_I_deficiency..0.638580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931130691112103232766CT330196BenignPhenylketonuria..0.292530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931210259212103233031GA108328Benignnot_specified|not_provided0.018450.016250.010580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931316741312103237468GC177903Benignnot_specified0.82716.0.840261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93149275512103240630CA98662BenignPhenylketonuria|not_specified|not_provided0.36660.351730.269570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931516741412103248924CT177904Benignnot_specified0.65355.0.546531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931610271212103249164CT108448not_providednot_provided..0.234630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931710267312103271193GA108409Benignnot_specified|not_provided0.382820.372520.294330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93189273612103306550AG98643BenignPhenylketonuria|not_specified|not_provided0.206910.194270.216850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931958520712103310787GA576256Conflicting_interpretations_of_pathogenicityPhenylketonuria0.37714.0.363620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932016275812103352649CG175385Benignnot_specified0.103930.052520.071290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932130692312106751563CT315852Uncertain_significancePol_III-related_leukodystrophy..0.006790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932213000112106838340TC135447BenignPol_III-related_leukodystrophy|not_specified0.19099.0.317890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932313000312106903321TC135449BenignPol_III-related_leukodystrophy|not_specified0.211520.324140.324880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932430695512106903674AG330244BenignPol_III-related_leukodystrophy..0.324880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932555922012108956417TTGG549981Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932655922212108956433CT549983Benignnot_provided0.62541.0.507590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932721455412108956526AAG211576Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932868411612108958439TC666438Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932968197812108962398CG666439Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933026141712110221631GC254400Benignnot_specified|not_provided0.47609.0.56190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933166756712110224922AC666224Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933266756612110225923CG665364Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933366756512110226796AG666228Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933426142012110240838TG254405BenignSpondylometaphyseal_dysplasia|Metatrophic_dysp...0.58081.0.754390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933567024812110270953AG666234Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933667024712110271351AG665388Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933767070612111052465TA666236Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933867070512111083084GT665393Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93393177412111350999GA40434not_providednot_provided..0.149960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93403177212111351029TCT40432BenignFamilial_hypertrophic_cardiomyopathy_10|not_sp......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934152236512111894072CT512973Likely_benignSpinocerebellar_ataxia_20.199990.215740.231430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934212850812112036929GA133957Benign/Likely_benignSpinocerebellar_ataxia_2|not_specified.0.718610.444290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934312850712112037000GC133956Benign/Likely_benignSpinocerebellar_ataxia_2|not_specified.0.8750.444290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934430722012112856643GA316040Benign/Likely_benignNoonan_syndrome|Noonan_syndrome_with_multiple_.....0.143170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934556160712112890776AG552671Benignnot_provided..0.37340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93464056912112939853CT49039BenignNoonan_syndrome..0.511780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934730723012112944240CTC329407Uncertain_significanceNoonan_syndrome|Noonan_syndrome_with_multiple_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93481398512113348870GA29024Uncertain_significanceDiabetes_mellitus,_type_1,_susceptibility_to.0.562780.473841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934930727512114792236TC316071BenignHolt-Oram_syndrome..0.808311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935030730012114793240CT323333BenignHolt-Oram_syndrome.0.683730.572281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935130731812114846061AG329565Likely_benignHolt-Oram_syndrome..0.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935230733612115108907TC323367BenignUlnar-mammary_syndrome..0.495811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935330738412115121203AG316155BenignUlnar-mammary_syndrome..0.159150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935430739912115121595TAT330802BenignUlnar-mammary_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935567611412120876065AC665408Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935666970312120876476TA665417Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935713625912121174899TC139962BenignDeficiency_of_butyryl-CoA_dehydrogenase|not_sp...0.506770.57060.590660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935813626012121176679CT139963BenignDeficiency_of_butyryl-CoA_dehydrogenase|not_sp...0.591960.545260.673120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935930745312121177778AG316184BenignDeficiency_of_butyryl-CoA_dehydrogenase..0.274360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936012923412121416622CG134680BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.417480.472170.428511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93611493712121416650AC29976BenignSERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF|Matur....0.353290.298521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936267685912121416988AG666539Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936367686412121426478CT665420Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936467353512121426594GA666082Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936567687412121431225GA666269Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936667353612121431300CT666085Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936767686012121432302TG666276Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936813335512121434630CCTCATTCAT137094Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936968060612121434833GA666096Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937012922912121435342CT134675BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.246390.336780.316691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937112923012121435427GA134676BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.247350.346510.317691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937212923112121435475GA134677BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.290070.434720.359631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937367687712121435587GT666282Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937413550512121437221TC139244not_providednot_specified0.743890.814540.776961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93753681012121437382AG45471BenignMaturity-onset_diabetes_of_the_young,_type_3|n....0.995850.985221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937667353712121438844TC666285Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937730746412121439192GT329694BenignMaturity_onset_diabetes_mellitus_in_young..0.359821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937830746812121439433GA323496BenignMaturity_onset_diabetes_mellitus_in_young..0.360021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937980289912122295335TC791201BenignHawkinsinuria...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938036898212122296784CT353211BenignHypertyrosinemia|Hawkinsinuria0.31669.0.336060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938140360612122372183GA390112Benignnot_specified0.033790.042350.034350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938240360712122386948GA390117Benignnot_specified0.034450.042610.036140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938377041512123186880CT702187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938467153512123718301CT666286Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938530750212123741776TC323565BenignCombined_oxidative_phosphorylation_deficiency..0.651361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938630750712123742061GA316228BenignCombined_oxidative_phosphorylation_deficiency..0.557311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938730750812123742093TG316231BenignCombined_oxidative_phosphorylation_deficiency..0.650561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938867500712124156487CT666542Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938967070712124156897AG666288Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939067500812124158080AG666100Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939167500912124158450TC666290Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939267501012124158455TC665445Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939367222812124158502GA665448Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939467225012124163512CT665449Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939567070812124171151CT665450Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939667070912124171176AG666101Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939767501112124171323TC665453Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939867501212124171658CT666292Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939967225112124171826TC666293Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940067191112124172307CT666296Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940167191212124172342TC665455Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940212629012124172555AT131822Benignnot_specified|not_provided0.446790.356660.331670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940312629412124172731GA131826Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Meckel...0.450480.357720.336060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940412629312124172746TC131825Benignnot_specified|not_provided0.535520.426860.445490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940567191312124173005TG666302Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940667225212124177016CA666551Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940712628212124177289TC131814BenignMeckel_syndrome_type_8|not_specified0.536290.428130.445490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940867192612124177538CT666306Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940912628312124179417TC131815BenignJoubert_syndrome|Meckel-Gruber_syndrome|Meckel...0.572270.438740.482230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941067501612124179620GA666310Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941112628412124179739AG131816Benignnot_specified|not_provided0.390220.325990.272170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941267225312124180011TC666107Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941312628512124181049CT131817Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Meckel...0.389590.325520.272360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941467501812124181820AG666313Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941567225512124184065GA666115Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941667225612124184482GC666562Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941767192712124184639TG666321Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941830756412124192415GA316270Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Cutis_.....0.216850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941930756712124192587TTCTCA323625BenignJoubert_syndrome|Meckel-Gruber_syndrome|Cutis_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
942030756912124192728CT331039Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Cutis_.....0.272170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
942167623112124196735GC666144Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
942230757312124196891CG316275Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Cutis_.....0.272170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94239551512124197099CT101414Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Cutis_...0.38260.482510.272170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94249552312124209332TC101422BenignCutis_laxa,_recessive|not_specified0.646630.679240.7510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94259552412124209352CT101423BenignCutis_laxa,_recessive|not_specified0.639860.675630.74980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94269552512124210782TC101424BenignCutis_laxa,_recessive|not_specified0.639860.675590.74980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
942768316712124219791CT665490Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
942826026012124220055TC254452Benignnot_specified0.57151.0.679910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94299552012124229429TC101419BenignCutis_laxa,_recessive|not_specified0.695370.69340.799520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943068316912124236497CT665492Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94319552112124241506CT101420Benign/Likely_benignALG9_congenital_disorder_of_glycosylation|Cuti...0.025830.028350.014780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943230761012124243707TC331090BenignCutis_laxa,_recessive..0.617610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943330761812124244272CG316294BenignCutis_laxa,_recessive..0.791530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943430764212124246004GA316304BenignCutis_laxa,_recessive..0.606630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943540261112124265687TC390121Benignnot_specified0.606340.663210.713261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943640261212124267638AG389988Benignnot_specified0.928110.913340.963061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943740261312124267703TC390038Benignnot_specified0.666770.670250.801321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943878170212124272382TC713405Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943940261412124274474AG390123Benignnot_specified0.730590.729370.837861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944040261512124325977TG390127Benignnot_specified0.91721.0.786141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944140262112124387574GA390129Benignnot_specified0.30060.305530.335660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944240262212124387586AG389996Benignnot_specified0.322290.300880.358030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944340262412124399550TC390002Benignnot_specified0.234070.172670.208470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944440262512124417889CT390133Benignnot_specified0.307430.374110.260581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944525309112125284671GA247502PathogenicHigh_density_lipoprotein_cholesterol_level_qua...0.000850.00065.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944676859712125396488TC702205Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944776983612126137060CT702216Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944830769712132414086CT323783BenignMitochondrial_myopathy_and_sideroblastic_anemi.....0.12741|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944968363012132427841GA665502Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945068363112132427909AG666180Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945122698512133196696CA230275Benign/Likely_benignnot_specified|not_provided0.017380.029010.009380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945267650412133212692TC665511Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945338021112133233705TC374780Benignnot_specified|not_provided0.972940.971170.983831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945443926612133237753GGA432724Benign/Likely_benignHereditary_cancer-predisposing_syndrome|not_sp......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945538020912133252796CG373073Benignnot_specified|not_provided0.68215.0.571691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945667967312133252947TC666617Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945767649112133253310AG666621Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945867648812133254083TC666220Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945967648912133256904CT666369Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
946067648612133257999GGCTCAG666222Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
946167967012133258088CT666374Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
946238020812133263825GA373095Benignnot_specified|not_provided.0.490140.378791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94633112851320712746CAC335443BenignZonular_Pulverulent_Cataract...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94643112961320713527TA319093BenignZonular_Pulverulent_Cataract..0.954071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94653112981320713694GT327537BenignZonular_Pulverulent_Cataract..0.979231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94663113081320714863CT327539BenignZonular_Pulverulent_Cataract..0.271371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94673113121320715037AG335505Likely_benignZonular_Pulverulent_Cataract..0.009190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94683113191320715502CT335528BenignZonular_Pulverulent_Cataract..0.978041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94693113221320715611TC335530Likely_benignZonular_Pulverulent_Cataract..0.009190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94703113271320715877CT319109BenignZonular_Pulverulent_Cataract..0.241011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94713113291320715930TCAT335534BenignZonular_Pulverulent_Cataract...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94722614591320716533GT254822Benignnot_specified|Zonular_Pulverulent_Cataract|not...0.968390.986760.964861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94733113531320761763AG335544BenignMutilating_keratoderma|Hystrix-like_ichthyosis.....0.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94743113561320761888CT327575BenignMutilating_keratoderma|Hystrix-like_ichthyosis.....0.893371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94753113571320761973CA333862BenignMutilating_keratoderma|Hystrix-like_ichthyosis.....0.870211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9476362771320762956AG44941BenignMutilating_keratoderma|Hystrix-like_ichthyosis.....0.68670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9477447391320763380TC53906BenignDeafness,_autosomal_recessive_1A|not_specified...0.000620.014590.030951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9478362791320763642CT44943BenignDeafness,_autosomal_recessive_1A|Deafness,_aut...0.002540.045380.071891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94793113761320796497CA333878Likely_benignHidrotic_ectodermal_dysplasia_syndrome|Nonsynd.....0.254790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94804029651321189941GA390036Benignnot_specified0.181410.132080.129990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94814029661321205140AT390156Benignnot_specified0.658240.76020.764780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94824029671321205192GA390163Benignnot_specified0.658240.760040.764780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94833114161322245927CCTT333898BenignSymphalangism-brachydactyly_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94843114211322255167CT327654BenignSymphalangism-brachydactyly_syndrome0.247040.321450.253390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94853114241322275394AG333908BenignSymphalangism-brachydactyly_syndrome0.77403.0.832470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94863114261322275583GA319176BenignSymphalangism-brachydactyly_syndrome0.980470.994820.981831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94873114781323755127GA335624Likely_benignSevere_autosomal_recessive_muscular_dystrophy_.....0.12520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94886843541323808468AT667089Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94896782101323808623CCTATT666995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9490926541323824783TG98561BenignSevere_autosomal_recessive_muscular_dystrophy_...0.471170.434260.524761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94916705531323869771GC666264Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94926843571323869907TC667097Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94936700651323898454CT667021Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9494926571323898509TC98564Benign/Likely_benignSevere_autosomal_recessive_muscular_dystrophy_...0.57620.674420.629790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94951676811323898664AG178066BenignSevere_autosomal_recessive_muscular_dystrophy_...0.82108.0.87780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94962884281323898934GA272665Benign/Likely_benignSevere_autosomal_recessive_muscular_dystrophy_.....0.350240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94971302011323905711AG135648Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.204550.277970.258390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94981302001323907677CT135647BenignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.984390.995670.985421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94991301991323907909AG135646Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.204550.277790.258990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95001302051323909162AG135652Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.20475.0.259190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95011302031323911820AG135650Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.203510.280910.259980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95022408951323928671CT241631BenignSpastic_paraplegia|Spastic_ataxia_Charlevoix-S...0.025760.023320.008190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95032603891323985391TC254843Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.27651.0.31110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95047698441325016092CT702636Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95057686041325021144GTCTG778271Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95063115881325456631GGT335746BenignSeckel_syndrome|Primary_Microcephaly,_Recessive..0.323880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95073115971325456911GA327860BenignSeckel_syndrome|Primary_Microcephaly,_Recessive..0.154350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95083115981325456917TC335797BenignSeckel_syndrome|Primary_Microcephaly,_Recessive..0.134980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95096783271325457595GT667110Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95101582131325458232AGTTA169016BenignSeckel_syndrome|not_specified|Primary_Microcep......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95111582121325458650GA169017Benignnot_specified|not_provided0.78210.806620.74821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95126680641325458853TG667360Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95136801831325459270CT667366Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95141582081325466774TC169021BenignSeckel_syndrome|not_specified|Primary_Microcep...0.767880.803580.737221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95151582071325466955TC169022BenignSeckel_syndrome|not_specified|Primary_Microcep...0.451870.539450.484031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95166680631325481614TC666271Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95176783251325482508GA666275Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95186801801325484392CT666278Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95196739281325486287CT667023Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95206783241325486515CT667027Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9521216661325487103TC34518BenignSeckel_syndrome|Primary_autosomal_recessive_mi...0.12179.0.155150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95221284881326043182AC133937Likely_benignnot_specified0.24120.191310.204070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95231284891326148966CT133938Likely_benignnot_specified0.708320.628660.536341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95241284901326273385GC133939Likely_benignnot_specified0.989820.997260.987421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95253116411328195972CT319355Likely_benignTreacher_Collins_Syndrome,_Dominant..0.080870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95263116461328196100GA334181Likely_benignTreacher_Collins_Syndrome,_Dominant0.00325.0.0020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95276697331328493997GA666284Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95286838331328494949CG667116Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95296735521328498323GC667377Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95301344471328624294GA138186not_providednot_specified0.522910.598780.558710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95311621731331819325TC171886not_providednot_provided..0.200881|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9532966261331821256CG102519Benignnot_specified0.404660.36170.24760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9533966281331821992TC102521Benignnot_specified|not_provided0.963990.982760.975441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9534966241331891746GA102517Benignnot_specified|not_provided0.655390.742460.666731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95352095981332889363GA205808BenignBreast-ovarian_cancer,_familial_2..0.159550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95362099301332889968GA205811BenignBreast-ovarian_cancer,_familial_2..0.741210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95372096061332891451CAAGTC205817BenignBreast-ovarian_cancer,_familial_2..0.258391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95382099311332892217CT205823BenignBreast-ovarian_cancer,_familial_2..0.974241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95392096231332894484GA205837BenignBreast-ovarian_cancer,_familial_2..0.049120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95402099341332895377GC205843BenignBreast-ovarian_cancer,_familial_2..0.974241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95412099351332899878CT205863BenignBreast-ovarian_cancer,_familial_2..0.973841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95422648631332901905AAT259427BenignBreast-ovarian_cancer,_familial_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95432099361332905265GA205884BenignBreast-ovarian_cancer,_familial_2..0.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
954493291332906729AC24368BenignBreast_carcinoma|Hereditary_breast_and_ovarian....0.277930.24941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95452099371332908106AG205894BenignBreast-ovarian_cancer,_familial_2..0.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95461327791332913055AG136527BenignHereditary_breast_and_ovarian_cancer_syndrome|...0.97577.0.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95471327801332915005GC136528BenignHereditary_breast_and_ovarian_cancer_syndrome|...0.97547.0.973641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95482649261332918303GAG259450BenignBreast-ovarian_cancer,_familial_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95492099381332920016GA205931BenignBreast-ovarian_cancer,_familial_2|not_specified..0.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95502097141332920618GA205936BenignBreast-ovarian_cancer,_familial_2..0.423321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95512099391332920844TC205938BenignBreast-ovarian_cancer,_familial_2|not_specified..0.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95522097381332924884CT205961BenignBreast-ovarian_cancer,_familial_2..0.24821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95532097471332927017GA205970BenignBreast-ovarian_cancer,_familial_2..0.037140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95542099401332928317TC205977BenignBreast-ovarian_cancer,_familial_2..0.975841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95551337381332929387TC137477BenignDuctal_breast_carcinoma|Breast-ovarian_cancer,...0.97770.993720.975841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95562649681332930936GA259469BenignBreast-ovarian_cancer,_familial_2..0.99861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95572097631332933022GT205988BenignBreast-ovarian_cancer,_familial_2..0.44091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95582099421332933937AG205991BenignBreast-ovarian_cancer,_familial_2..0.976241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95592097831332938755CCT206009BenignBreast-ovarian_cancer,_familial_2..0.210460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95602097881332939302GA206014BenignBreast-ovarian_cancer,_familial_2..0.220650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95612649061332942948TG259489BenignBreast-ovarian_cancer,_familial_2..0.224041/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95622098211332945932CT206049BenignBreast-ovarian_cancer,_familial_2..0.208870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95632099451332946011AG206051BenignBreast-ovarian_cancer,_familial_2..0.976041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95642099461332946415CT206053BenignBreast-ovarian_cancer,_familial_2..0.976041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95652099501332954741TA206082BenignBreast-ovarian_cancer,_familial_2..0.976641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95662098501332954913GA206084BenignBreast-ovarian_cancer,_familial_2..0.005590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95672098581332956757GA206093BenignBreast-ovarian_cancer,_familial_2..0.228040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95682098671332958997GA206102BenignBreast-ovarian_cancer,_familial_2..0.026360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95692098701332959534AG206106BenignBreast-ovarian_cancer,_familial_2..0.209270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95702098721332959789TC206108BenignBreast-ovarian_cancer,_familial_2..0.228631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95712649101332961189GGC259515BenignBreast-ovarian_cancer,_familial_2..0.976641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95722098781332961497CT206116BenignBreast-ovarian_cancer,_familial_2..0.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95732648671332962258CCT259517BenignBreast-ovarian_cancer,_familial_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95742098841332963529CG206125BenignBreast-ovarian_cancer,_familial_2..0.051120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95752098911332964504CT206133BenignBreast-ovarian_cancer,_familial_2..0.160340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95762098931332965310GA206135BenignBreast-ovarian_cancer,_familial_2..0.228240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95772099591332965651TC206136BenignBreast-ovarian_cancer,_familial_2..0.976641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95782099021332967374TCT206145BenignBreast-ovarian_cancer,_familial_2..0.159940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95792099031332967809CG206147BenignBreast-ovarian_cancer,_familial_2..0.160140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95802099111332969248AG206157BenignBreast-ovarian_cancer,_familial_2..0.160140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95812099171332970586AG206163BenignBreast-ovarian_cancer,_familial_2..0.210060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95822099641332971425TC206167BenignBreast-ovarian_cancer,_familial_2..0.976841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95831259271332973012AC131465BenignHereditary_breast_and_ovarian_cancer_syndrome|.....0.160740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95843116801333590851TC334231BenignTumoral_calcinosis,_hyperphosphatemic,_familia...0.947470.986520.944091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95853117011333635463TC319386BenignTumoral_calcinosis,_hyperphosphatemic,_familial0.768950.80360.710860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95863117051333635835TC334253BenignTumoral_calcinosis,_hyperphosphatemic,_familial0.968320.991860.976241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95873117241333639609AG334285Likely_benignTumoral_calcinosis,_hyperphosphatemic,_familial..0.012580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95883117571336877878TC336031BenignTroyer_syndrome..0.989021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95893117931337401917GTG319478BenignBare_lymphocyte_syndrome_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95903117961337402362CT328029Likely_benignBare_lymphocyte_syndrome_2..0.009380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95913117971337402440TC336079BenignBare_lymphocyte_syndrome_2..0.796131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95923118021337403143GA328035Likely_benignBare_lymphocyte_syndrome_2..0.141370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95933118091337419035GT319497BenignPrimary_pulmonary_hypertension..0.114420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95943118101337419042AGTTA319502BenignPrimary_pulmonary_hypertension..0.320890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95953118321337419636AAATGTTA336116BenignPrimary_pulmonary_hypertension...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95963118381337420301TAGATTAT319534BenignPrimary_pulmonary_hypertension...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95973118391337420348AG334428BenignPrimary_pulmonary_hypertension..0.430110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95983118831337422377AGA334468BenignPrimary_pulmonary_hypertension...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95996752861337423032GA667127Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96006724861337439964CA667034Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96016838621337440146TC667035Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96028029601337580139GA791343BenignPontocerebellar_hypoplasia,_type_1c...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96032632991339262057GA254848BenignFraser_syndrome_1|not_specified0.999770.9999711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96041935351339263023CT190699BenignFraser_syndrome_1|not_specified0.186940.190330.084270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96051935361339263714TC190700BenignFraser_syndrome_1|not_specified.0.9999711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96062633001339430314CT254849BenignFraser_syndrome_1|not_specified0.72190.739770.771971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96072633011339433606AG254850BenignFraser_syndrome_1|not_specified0.397820.373370.43671|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96083120451339455266GA328237BenignFraser_syndrome_1..0.326280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96093120521339456352AG336408BenignFraser_syndrome_1..0.433910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96103120651339457064CG334678BenignFraser_syndrome_1..0.433910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96113120751339457850GA328254BenignFraser_syndrome_1..0.298720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96123120781339458116TC336428BenignFraser_syndrome_1..0.303710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96133120801339458405GA328262BenignFraser_syndrome_1..0.303710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96143120871339459389CT328264BenignFraser_syndrome_1..0.74741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96153120891339459484GA328272BenignFraser_syndrome_1..0.298720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96163120931339459694CT319727BenignFraser_syndrome_1..0.308710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96173120991339460415GA319745BenignFraser_syndrome_1..0.75041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96183121011339460466TA319746BenignFraser_syndrome_1..0.308511|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96193121041339460486CG319751BenignFraser_syndrome_1..0.434110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96203121061339460522TTAG,G336477BenignFraser_syndrome_1..0.464461|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
96213121111339460539ATA336493BenignFraser_syndrome_1...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96223121131339460657CT328287BenignFraser_syndrome_1..0.434310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96233121161339460823CT328291BenignFraser_syndrome_1..0.257190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96241934351340229842AAG190599Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96251934361340229891GA190600BenignCongenital_disorder_of_glycosylation|not_speci...0.43809.0.484430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96261934371340229957TA190601BenignCongenital_disorder_of_glycosylation|not_speci...0.416060.513150.484230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96273121391340261945AG336505Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.288480.259880.295531|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96283121531340325310CT328314BenignCongenital_disorder_of_glycosylation.0.514660.466450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96293121591340326282AG334793BenignCongenital_disorder_of_glycosylation.0.443610.275960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96303121601340326284CAC328326BenignCongenital_disorder_of_glycosylation...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96313121681341363595TC319824BenignHyperornithinemia-hyperammonemia-homocitrullin.....0.577281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96326838711341372944CT667130Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96331391251341373254GA142828Benign/Likely_benignHyperornithinemia-hyperammonemia-homocitrullin...0.091570.079320.06290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96346720181341378982GA667132Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96351391261341379272CT142829Benign/Likely_benignHyperornithinemia-hyperammonemia-homocitrullin...0.125170.095510.113421|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96366720191341379550AG667040Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96371391271341382711AT142830BenignHyperornithinemia-hyperammonemia-homocitrullin...0.342230.372480.322680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96386740521341382886GA667391Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96396720201341383036AC667044Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96406838741341383515AG667046Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96413121871341384156AG336595BenignHyperornithinemia-hyperammonemia-homocitrullin.....0.423720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96423121891341384318AG319839BenignHyperornithinemia-hyperammonemia-homocitrullin.....0.423720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96433121901341384382CT336610BenignHyperornithinemia-hyperammonemia-homocitrullin.....0.423720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96443121971341384732GC336614Likely_benignHyperornithinemia-hyperammonemia-homocitrullin.....0.052921|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96453122041341385444GT319871Likely_benignHyperornithinemia-hyperammonemia-homocitrullin.....0.042130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96463122091341385658CA334838BenignHyperornithinemia-hyperammonemia-homocitrullin.....0.231630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96473122221343148313CG328402BenignOsteopetrosis..0.99881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96481932571343148565TC190421BenignOsteopetrosis|not_specified0.386150.523630.465460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96491952021343155443GA192363BenignOsteopetrosis|not_specified0.824850.811520.788341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96503122431343181318GT319888BenignOsteopetrosis..0.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96513122511343182002GT319894BenignOsteopetrosis..0.332870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96522260251347411985AG227777drug_responseMajor_depressive_disorder,_response_to_citalop.....0.727241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96535110891347469940GA504274Likely_benignnot_specified0.400660.407150.441290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96545110901347471478CT504813Likely_benignnot_specified..0.443490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96553122541348516845GT319895Likely_benignMitochondrial_DNA_depletion_syndrome..0.082271|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96563122591348517178TC328423Likely_benignMitochondrial_DNA_depletion_syndrome..0.082471|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96573122621348517289AG319904BenignMitochondrial_DNA_depletion_syndrome..0.941891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96586726311348522909TC667394Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96596764491348523567TC667140Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96606726301348523952CT666299Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96616841031348524020TC666305Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96626711301348524042AT667146Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96636716171348528007AG666307Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96646719991348529003CT667158Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96656701471348547170AC666308Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96666701461348547180CT667169Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96671393601348547467AT143063BenignMitochondrial_DNA_depletion_syndrome|not_speci...0.742040.751550.683511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96686764531348547663TC667174Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96691393581348563008GA143061BenignMitochondrial_DNA_depletion_syndrome|not_speci...0.741970.751520.683511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96706764211348563246AG666315Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96716712251348570710TC667177Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96726701451348571383CT666317Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96736764481348575587GC667072Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96746841021348575693GT667395Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96752558251348919358TG254854Benignnot_specified0.928320.960750.913741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96762558231349051012CT254858Benignnot_specified0.895820.955210.884981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96773123431352507110GC319950BenignWilson_disease..0.523960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96786804861352510160GA666319Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96792547701352511362CG254860Benignnot_specified|not_provided0.572810.560710.531750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9680357271352511606GA44391Benign/Likely_benignWilson_disease|not_specified|not_provided0.549090.537380.50180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96816804851352512888CT667078Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9682357201352515354AG44384BenignWilson_disease|not_specified0.577560.565260.540540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96836804831352516230TC666326Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96846804841352517955CT667405Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9685357131352520507CT44377Benign/Likely_benignWilson_disease|not_specified0.05290.058020.024960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9686357091352520627CG44373Benign/Likely_benignWilson_disease|not_specified0.095340.071990.113620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9687357081352523808CT44372BenignWilson_disease|not_specified0.571660.562690.530950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9688357071352524488TC44371BenignWilson_disease|not_specified0.552170.538440.50240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96896804811352531960CT667187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96906760981352542796TG667410Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96913124051352585548GT336917BenignWilson_disease|Congenital_disorder_of_glycosyl...0.59505.0.516770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96925388711352585881AG528164BenignCongenital_disorder_of_glycosylation_type_1P|n.....0.072880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96934873231352586922TC463943Likely_benignnot_provided..0.021960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96943124221352603194GT335052BenignCongenital_disorder_of_glycosylation0.632860.647850.581270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96953124231352603241AG320003Likely_benignCongenital_disorder_of_glycosylation0.100030.111990.080070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96963124261352603775CT320004BenignCongenital_disorder_of_glycosylation0.564430.628810.510580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96975178231360240961CT504304Benignnot_specified0.202980.204120.146970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96985080941360385060AATTAC504579BenignAuditory_neuropathy,_autosomal_dominant,_1|not.....0.929111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96995086091360545182GA505207Benignnot_specified|not_provided0.030690.026870.011980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97006831331360737996TCCGCT656213Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97011308611375861001AG136305Likely_benignnot_specified0.186440.083230.174320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97022123731375861174GGA208052Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97031305521375866284GA135998Likely_benignnot_specified0.08960.081980.036340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97041305501375876389GA135996Likely_benignnot_specified0.483120.491070.369211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97051305491375884216CT135995Likely_benignnot_specified0.765020.825640.711861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97061305481375884290GA135994Likely_benignnot_specified0.319730.357490.226040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97071305561375936519CG136002Likely_benignnot_specified0.99768.0.995211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97081305511376055602GA135997Likely_benignnot_specified0.072470.09670.111020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97097892201377460023GA713972Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97106707271377565972AG666343Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9711953961377566320CG101295Benign/Likely_benignSeizures|Neuronal_ceroid_lipofuscinosis|not_sp...0.02260.026930.012980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97127686201378272267TTGG702735Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97137686211378272276GGC702736Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97142266221378475313TC230450BenignWaardenburg_syndrome|not_specified|Hirschsprun...0.597430.57990.544730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97152266251378477674AG230453Benignnot_specified0.984930.994880.983831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97165060891386369120CT497033Benignnot_specified0.76610.721030.750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97173125291393879087GA337079BenignOmodysplasia..0.393571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97183125471395034749GA320094BenignOmodysplasia_1|Omodysplasia0.153010.210570.170930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97193125601395055795GGT328645BenignOmodysplasia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97203125771395056768CT335285BenignOmodysplasia..0.18910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97213125981395059164AG337158BenignOmodysplasia..0.18990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97223126021395059304GC328704BenignOmodysplasia..0.881390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97232259591395714976CT227778drug_responsetenofovir_response_-_Metabolism/PK0.796560.812140.794331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97244027941399554621GA390093Benignnot_specified0.03320.044820.030150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97259544613100635377CT101345Benignnot_specified0.082270.079920.041730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
972666966213100635606GA667117Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
972766994713100809805AG667042Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
972866995313100861262CT666225Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97299276513100921056AG98672BenignPropionyl-CoA_carboxylase_deficiency|not_speci...0.91750.977020.915941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973025573413101020695AG254773Benignnot_specified0.68230.696620.552721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973167616513101077774GA666233Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973226225313101776954GA254785Benignnot_specified|not_provided0.010460.008640.003990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973326225213101795422AG254786Benignnot_specified0.5050.490990.521770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973426225013101881777GA254788Benignnot_specified0.282950.28580.192290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973531090313103498198AG333317BenignXeroderma_pigmentosum..0.68891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973631090413103498375TC318811BenignXeroderma_pigmentosum..0.297920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973712900913103504517TC134455BenignXeroderma_pigmentosum|Xeroderma_pigmentosum,_g...0.61180.52910.493010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973825516113103524762CT254793BenignXeroderma_pigmentosum|Xeroderma_pigmentosum,_g...0.434490.45130.317090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973913417213103527849GC137911BenignXeroderma_pigmentosum,_group_G|not_specified0.99746.0.99821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974013417313103527930GC137912not_providednot_specified0.99746.0.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974112901113103528002GC134457BenignXeroderma_pigmentosum|Xeroderma_pigmentosum,_g...0.305780.277680.361420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974231094513103528337GA318841BenignXeroderma_pigmentosum..0.549521|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974340344613103705044AC390031Benignnot_specified0.892430.860990.840261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974431094813108859846CT318850Likely_benignLig4_syndrome|Severe_combined_immunodeficiency.....0.129790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9745882013110435231CT23859risk_factorDIABETES,_TYPE_II,_SUSCEPTIBILITY_TO.0.382050.283350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974676863313110435302TC702582Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974725825513110813709GA254798BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.356760.375590.307911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974819752013110818598TG194681BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.32124.0.288341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974925825113110827574TA254801BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.335920.35150.317890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975025825013110827580CT254802BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.33592.0.318090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975125824913110833702CT254803BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.321620.347680.307110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975225824813110835460CT254804Benignnot_specified0.105290.115250.081670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975325824713110839550TG254805BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975425826613110857823CT254807Benignnot_specified0.568580.619330.593451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975525826513110857895AG254808BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.570120.622240.596451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975625826213110859743CT254810BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.568660.621050.596051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975725826113110861785CG254811BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.85008.0.861221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975825825413110864225AT254813BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.439570.467230.472841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975919847213110864264CT195633Benign/Likely_benignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.004840.007190.006590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976025826413110895092AG254814BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.255880.190720.18990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976119321613110959356CG190381BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit....0.482360.424120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976231108713110959464CA335235BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit.....0.2480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976331108913110959643AC333543BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit.....0.615020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976431109013110959688CG327337BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit.....0.308911|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976531109113110959705CT327338BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit.....0.509391|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976631109213110959717TC333546BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit.....0.306111|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976731109613111077197GA335259BenignPorencephalic_cyst0.932710.961350.942691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976831111713111098226CT333580BenignPorencephalic_cyst|not_provided0.489870.513720.482830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976931111913111102042GA333585BenignPorencephalic_cyst|not_provided0.262850.314430.238620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977031112013111102126CT318936BenignPorencephalic_cyst|not_provided0.284760.338240.246810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977131112813111111173GA333595BenignPorencephalic_cyst|not_provided0.620970.528830.491411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977231112913111111235GA333604BenignPorencephalic_cyst|not_provided0.634580.538950.509191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977331113413111117745CT333615BenignPorencephalic_cyst|not_provided0.61320.538330.513981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977431114513111121620CT318982BenignPorencephalic_cyst|not_provided0.231060.255390.19091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977531115113111132556CT335312BenignPorencephalic_cyst|not_provided0.239880.310030.246410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977631115313111137240AG327386BenignPorencephalic_cyst|not_provided0.131240.156960.12580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977731117113111155779GA333642BenignPorencephalic_cyst|not_provided0.24198.0.18631/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977831118013111158874AG333651BenignPorencephalic_cyst|not_provided0.870920.832910.7521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977931118313111160304GA319027BenignPorencephalic_cyst|not_provided0.087230.100980.100840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978031118813111164266CT335349Likely_benignPorencephalic_cyst0.004240.001350.005591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978131119013111164274TC327437Benign/Likely_benignPorencephalic_cyst|not_provided0.004330.001360.005591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978231120013111164614TC327453BenignPorencephalic_cyst..0.466250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978331120113111164628TAAT335357BenignPorencephalic_cyst...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978468345913111315506AC666983Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978568345813111315551AG667067Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978668345613111316043GC667070Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978768345513111316061CT666992Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978837994913111319754TC372639Benignnot_specified0.77480.80220.762381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978968344713111354110TC667351Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
979025630713113792754TC254819Benignnot_specified0.786450.83590.802721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
979125630813113801737CT254820BenignFactor_X_deficiency|not_specified0.73912.0.62321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97921387291420940515CT142432Benign/Likely_benignPurine-nucleoside_phosphorylase_deficiency|not...0.181220.16640.172130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9793139921420940606GA29031BenignNUCLEOSIDE_PHOSPHORYLASE_POLYMORPHISM|Purine-n....0.191960.204670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97941387301420940626CT142433Benign/Likely_benignPurine-nucleoside_phosphorylase_deficiency|not...0.198290.193240.204470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97953127301420942744AG320249BenignPurine-nucleoside_phosphorylase_deficiency|not...0.240890.194330.202280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97963127451420945488TC328812BenignPurine-nucleoside_phosphorylase_deficiency..0.977441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97973127491420945817TC335445Likely_benignPurine-nucleoside_phosphorylase_deficiency..0.037140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97983127501420945864TTG328815Likely_benignPurine-nucleoside_phosphorylase_deficiency..0.170330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97993127511420945906AC337323Likely_benignPurine-nucleoside_phosphorylase_deficiency..0.205270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98003127581420946151TC328851BenignPurine-nucleoside_phosphorylase_deficiency..0.322280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98013127681421152604CA320277Likely_benignAmyotrophic_Lateral_Sclerosis,_Dominant..0.097840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9802998271421770730AG105716BenignLeber_congenital_amaurosis|not_specified|Cone-...0.482480.548010.477240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
980349871421790040GT20026Benign/Likely_benignLeber_congenital_amaurosis|Cone-rod_dystrophy_....0.210490.167330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9804998121421792811GA105701Benign/Likely_benignLeber_congenital_amaurosis|not_specified|Cone-...0.231370.212580.18470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98052612271421793236GA254910Benign/Likely_benignLeber_congenital_amaurosis|not_specified|Cone-...0.214190.197150.145170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98062612281421796784GC254911BenignLeber_congenital_amaurosis|not_specified|Cone-...0.263760.337310.295330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98075877861421871653CT579920BenignHistory_of_neurodevelopmental_disorder0.940970.909260.907351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98084034611423240713TTAGC390596Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98091391971423242828TC142900BenignLysinuric_protein_intolerance|not_specified0.769180.86510.785540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98106840661423247687TC667572Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98113801861423282336GA373723BenignLysinuric_protein_intolerance|not_specified0.01430.012250.004190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98121391981423282449CT142901BenignLysinuric_protein_intolerance|not_specified0.562430.60730.606030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98136840631423282908TTGCAA666498Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98143128321423284572AG337424BenignLysinuric_protein_intolerance.0.529390.578080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98153128351423288935CG335556Likely_benignLysinuric_protein_intolerance..0.117010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98163128381423288953AG335564Likely_benignLysinuric_protein_intolerance..0.117010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98172587101423856896AG254919Benignnot_specified0.467780.495740.471650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9818366281423858271AGA45290Conflicting_interpretations_of_pathogenicityAtrial_septal_defect|Cardiomyopathy|Hypertroph......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9819445441423872666TC53711Benign/Likely_benignAtrial_septal_defect|Hypertrophic_cardiomyopat...0.828080.756510.784940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98201886491423882043CT186460Benign/Likely_benignHypertrophic_cardiomyopathy|Scapuloperoneal_my...0.004840.004960.00140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98216676191423897466GA667431Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9822431161423899793GA52286BenignCardiomyopathy|Hypertrophic_cardiomyopathy|Sca...0.020990.020850.014580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9823428691423902753GA52039BenignCardiomyopathy|Hypertrophic_cardiomyopathy|Sca...0.527530.488850.520370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98243129351424550224CT335678Likely_benignRetinitis_Pigmentosa,_Dominant..0.417131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98258030111424567498AC791396BenignPhosphoenolpyruvate_carboxykinase_deficiency,_......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98267698571425101548GA702849Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98277698581425101589GC702850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98287698591425101629TC702851Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98291776811431347012TC176082Benignnot_specified|not_provided..0.213860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98302265251431355096CG230521BenignDeafness,_autosomal_dominant_9|not_specified|N...0.511990.549150.411340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98312265281431355527CA230525Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.043420.065910.071691|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98326698111431535057AG667323Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98336800711431541938CAAGTC667452Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98346832121432047450CA667453Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98356832331432068215AG666544Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98366714891432068242AC666547Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98376832341432142930AG667455Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98386699371432256711AG666548Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98396832371432296156GA667460Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98406699411432319562AG667648Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98416695261432328164GT666554Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98423130321432328508GC337651Likely_benignMitochondrial_complex_I_deficiency..0.06251|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98433130461432329381TC329185BenignMitochondrial_complex_I_deficiency..0.605030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98443130671432330071AG337727BenignMitochondrial_complex_I_deficiency..0.486020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98453130681432330080GA320435BenignMitochondrial_complex_I_deficiency..0.486020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98463130721432330260AG329216BenignMitochondrial_complex_I_deficiency..0.49760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98473130791435180033CA335822BenignNemaline_Myopathy,_Recessive.0.246890.275960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98483130821435180389TA320449BenignNemaline_Myopathy,_Recessive.0.413040.342050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98493130831435180677ATA329225BenignNemaline_Myopathy,_Recessive...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98503130881435181146AG337734BenignNemaline_Myopathy,_Recessive.0.246220.276160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98513130941435181786TC329237BenignNemaline_Myopathy,_Recessive.0.25630.30990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98526738081435183213TC667337Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98536812651435183888CG667658Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98546688811435184228CT667664Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98556680711435184246TC667472Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
985667961435761675CG21835risk_factorMyocardial_infarction0.13094.0.19030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98573131051435871093CT337761BenignEctodermal_dysplasia_and_immunodeficiency_2|no.....0.455671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98583131081435871217GA329242BenignEctodermal_dysplasia_and_immunodeficiency_2|no...0.444870.40110.447881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98593131171435873770GA329256BenignEctodermal_dysplasia_and_immunodeficiency_2|no...0.228690.343090.244411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98603131281436986022CACAA,C335868Uncertain_significanceBenign_hereditary_chorea|Choreoathetosis,_hypo......1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
98613131331436986273AT320501BenignBenign_hereditary_chorea|Choreoathetosis,_hypo.....0.621810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98623131491436989419CA329293BenignBenign_hereditary_chorea|Choreoathetosis,_hypo.....0.108030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98633131521437126871AAC337831Likely_benignSelective_tooth_agenesis...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98643131551437127044CG337835Likely_benignSelective_tooth_agenesis..0.37620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98652599371437135753GC254940Benign/Likely_benignSelective_tooth_agenesis|Tooth_agenesis,_selec...0.316720.432490.331670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98666837291439556185GC656251Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98672613851445645715AG254947Benign/Likely_benignFanconi_anemia|not_specified0.020680.025310.012980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98682613911445665661AG254952Benign/Likely_benignFanconi_anemia|not_specified0.02076.0.008590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98693132491450087753TC320629BenignPrimary_ciliary_dyskinesia|Congenital_disorder....0.49350.295330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98703132701450091932TA329433BenignPrimary_ciliary_dyskinesia|Congenital_disorder.....0.541530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98711630911450092471TC175940BenignPrimary_ciliary_dyskinesia|Congenital_disorder...0.420730.4510.308710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98722610171450094913CA254955Benignnot_specified0.725310.63840.541930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9873958921450100386TC101788BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.666360.648590.488220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9874958911450100683CG101787BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,....0.613460.55910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9875958941450101370GA101790BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.685250.652510.493410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9876958931450101682CG101789BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.71338.0.493210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98775170591450585574CCA505456Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98785615231450596862TC552772Benignnot_provided..0.853831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98795615241450597012TC552774Benignnot_provided..0.530151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98805616061450601078CT552781Benignnot_provided..0.241411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98815616041450605158CT552786Benignnot_provided..0.844451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98825618381450606384AG552787Benignnot_provided..0.853441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98835616051450606434TC552788Benignnot_provided..0.25141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98845615381450606897AG552791Benignnot_provided..0.884781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98855615181450611845CT552792Benignnot_provided0.862710.871620.853441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98865615371450612401TC552793Benignnot_provided..0.833871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98875616031450612414CT552794Benignnot_provided..0.853441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98885616021450612457CT552795Benignnot_provided..0.833871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98893847101450616878GA376065Benignnot_provided0.607950.621450.518371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98905616011450619927AG552796Benignnot_provided0.31342.0.24721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98915616321450625194TTGAGT552800Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98925615991450626836CT552804Benignnot_provided0.862290.871610.853041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98935618711450627934GA552806Benignnot_provided..0.522761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98945618361450627948CT552807Benignnot_provided..0.893171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98955615971450628481CA552808Benignnot_provided..0.994811|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98965615311450641347TG552812Benignnot_provided..0.892571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98975618681450654921GA552824Benignnot_provided..0.24721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98985618351450654949CT552825Benignnot_provided..0.837061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98995615931450655146CTATTC552827Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99005615411450666263CT552830Benignnot_provided..0.536141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99015615901450667526GA552832Benignnot_provided..0.852041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99025618651450668067GA552834Benignnot_provided..0.2481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99035615191450670965GC552835Benignnot_provided0.882250.883280.857831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99043837791450671133AG376072Benignnot_provided0.318760.343720.242011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99051587971450732042GA169064Likely_benignnot_specified0.35930.437670.417130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99061588011450750577AG169066Likely_benignnot_specified0.499620.539590.504791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99071587981450769717GA169068Benign/Likely_benignnot_specified|not_provided0.574270.57010.596651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99081587991450778816AC169070Benign/Likely_benignnot_specified|not_provided0.563190.599910.572681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99096780561451000140AT666568Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99106780571451000145GA667341Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9911215301451057727GA34382BenignSpastic_paraplegia_3|not_specified|Spastic_par...0.795860.763270.821490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99126780581451060452AG667345Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99136704981451062162GA667348Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99146704991451062455GA667481Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99156780591451081449CT666571Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99166687351451081515CT666574Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99176705001451087263AG667665Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99186780691451087689GA667486Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99196780701451089727GT666578Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99206780711451090102CCAT667670Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99216780721451090115TG667349Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99226705011451096610GGTTCTT667356Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99231297971451204996CT135243Likely_benignnot_specified0.577890.504420.508790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99241297961451206021AG135242Likely_benignnot_specified0.991310.997570.992611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99251948841451223789CT192046BenignSeckel_syndrome_7|not_specified0.792250.745360.764380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99262811071451224374TG265344BenignSeckel_syndrome_7|not_specified0.807630.753260.784940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99271297871451224417GC135233Likely_benignnot_specified0.200910.227190.18630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99281297841451225097TC135230Likely_benignnot_specified0.014990.016050.008990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99291297791451237701AG135225Likely_benignnot_specified0.503310.620670.577281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99301298031451239067CG135249Likely_benignnot_specified0.9907.0.992411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99312588281451372098CAC254969BenignGlycogen_storage_disease,_type_VI|not_specifie......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99322588291451372103CG254970BenignGlycogen_storage_disease,_type_VI|not_specifie...0.150090.235690.2510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99332588381451375699TTA254975Likely_benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99341946271451378590CTC191790BenignGlycogen_storage_disease,_type_VI|not_specifie......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99352588301451383432GA254983BenignGlycogen_storage_disease,_type_VI|not_specifie...0.138170.225290.235420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99366681151453521648GA667674Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99376792731453522806AG667358Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99383799631453529669AT374264Benignnot_specified0.76834.0.817691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99396792721453540249AG666585Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99403799621453619463GA376096Benignnot_specified.0.845510.75221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99412211311453619480TTGCCGCC222375Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99423799601453619544GA374268Benignnot_specified0.70383.0.75041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99431971901454417522AG194351Benign/Likely_benignMicrophthalmia_syndromic_6|Orofacial_cleft|not...0.450020.457020.325680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99444307181455222475TC424257associationLip_and_oral_cavity_carcinoma..0.402960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99453133671455309505GA320709BenignGTP_cyclohydrolase_I_deficiency|Dystonia,_dopa.....0.033750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99463133781455310003TC336167BenignGTP_cyclohydrolase_I_deficiency|Dystonia,_dopa.....0.074080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99473134041455369502AG336185BenignGTP_cyclohydrolase_I_deficiency|Dystonia,_dopa.....0.945691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99488030311458937416TC791416BenignJoubert_syndrome_23...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99493134261460975956TC329589BenignAnophthalmia_-_microphthalmia..0.824881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99502601631460976537CA254993BenignCataract,_microphthalmia_and_nystagmus|not_spe...0.435640.515260.341451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99513134361460978071CG329623BenignAnophthalmia_-_microphthalmia..0.803321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99523134501461112234TAT338147BenignBranchiootorenal_Spectrum_Disorders|Nonsyndrom......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99533134591461112667GC338171BenignBranchiootorenal_Spectrum_Disorders|Nonsyndrom.....0.771171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99541305011464491695TC135947BenignEmery-Dreifuss_muscular_dystrophy|not_specifie...0.740610.811780.678911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99551305031464494278CT135949BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.8124.0.7521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99561305041464496749CT135950BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.741050.812190.671931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99571305081464497930GA135954BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.768820.820930.702481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99581305111464498037GA135957BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.878070.892380.837261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99591305131464519035AG135959BenignEmery-Dreifuss_muscular_dystrophy|Emery-Dreifu...0.912410.906760.861821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99601305161464519455AG135962BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.72288.0.665141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99611305201464522674GC135966BenignEmery-Dreifuss_muscular_dystrophy|not_specifie...0.739990.807630.681311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99621305211464522843AG135967BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.74131.0.682311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99631304881464656855TC135934BenignEmery-Dreifuss_muscular_dystrophy|Emery-Dreifu...0.491850.39430.487020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99641304891464681193CT135935BenignEmery-Dreifuss_muscular_dystrophy|Emery-Dreifu...0.508460.470160.583270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99651304901464686125GT135936BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.260650.240950.209670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99662811961464688175GC265433Benignnot_specified|not_provided..0.68830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99673136811464692630GC320910BenignEmery-Dreifuss_muscular_dystrophy..0.68950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99683136841464692825GA329957BenignEmery-Dreifuss_muscular_dystrophy..0.69090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99694031141464882380AG390190Benignnot_specified0.831540.833080.823481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9970136331464908845GA28672BenignNeural_tube_defects,_folate-sensitive,_suscept....0.43540.341850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99712571201465245863CG255009Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.36245.0.410540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99722571191465245956CT255010Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.363760.280920.411540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99732571181465245962AG255011Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.361910.281360.411940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99742571171465246623TC255012Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.423570.349440.445090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99752571151465249052CG255014Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.06189.0.101640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99762571081465253232TC255019Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.404430.338110.469450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99772571021465260227TG255024Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.460020.391650.450280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99782570981465263300CT255027Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.436340.380360.466851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99792570971465263347CT255028Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.252580.263850.281350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99802571381465267469TC255029Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.380060.326050.37340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99812571061465271650AG255034Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.427650.369320.466051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99822570991465271780GA255035Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.043750.053440.068090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99833137931465542067CG330076BenignPheochromocytoma..0.513381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99843138011465542607CT338566BenignPheochromocytoma..0.545931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99853138021465542629CT338569BenignPheochromocytoma..0.514781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99863138071465542790GA320994BenignPheochromocytoma..0.511781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99876769311465544450CT667677Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99884028871466028446AG390197Benignnot_specified|not_provided0.699480.704570.756790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99892613551467147816TC255036Benignnot_specified0.314130.266110.450280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99903138511468213571CT330125BenignSpastic_Paraplegia,_Recessive..0.950081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99913138521468213744GA321033BenignSpastic_Paraplegia,_Recessive..0.950081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99923138531468213792AG336646BenignSpastic_Paraplegia,_Recessive..0.31350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99933138661468214788TC338611BenignSpastic_Paraplegia,_Recessive..0.494010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99941307831468234539TC136229Benignnot_specified|Spastic_Paraplegia,_Recessive|no...0.941720.954580.903161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99956699871468234845TC667498Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99966703431468236522GA667369Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99976675921468238499TG667370Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99986699791468243075CA666593Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99993139051468250112GA338688Benign/Likely_benignnot_specified|Spastic_Paraplegia,_Recessive|no...0.036290.013890.027160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100006699781468250514AC667503Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100016951381468264867AG684516Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100026781881468270680GC666604Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100036699741468273812TC667511Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100042571881470418881GA255038Benignnot_specified0.187220.24970.217050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100052571891470477508CT255039Benignnot_specified0.136780.201250.205670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100062571901470478183CA255040Benignnot_specified0.010150.200680.205670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100072547141473664853GT255043Benignnot_specified0.619330.627990.671530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100083139561473686361TC338754Likely_benignEarly-Onset_Familial_Alzheimer_Disease|Dilated.....0.021170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100093139601473686944GA330249Likely_benignEarly-Onset_Familial_Alzheimer_Disease|Dilated.....0.145970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100103139621473687144CT336732Likely_benignEarly-Onset_Familial_Alzheimer_Disease|Dilated.....0.670330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100116845191474041748AG672091Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100123140601474165101AT321179BenignPrimary_ciliary_dyskinesia..0.866610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100133140691474165516AG321192BenignPrimary_ciliary_dyskinesia..0.866610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100143140821474166590AC321202Likely_benignPrimary_ciliary_dyskinesia..0.036540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100153140841474166821GA321205Likely_benignPrimary_ciliary_dyskinesia..0.282750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100163140911474167061GAG321210BenignPrimary_ciliary_dyskinesia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100173140951474167371CT321215Likely_benignPrimary_ciliary_dyskinesia..0.092250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100183141101474168625GA321229BenignPrimary_ciliary_dyskinesia..0.866211/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100193141421474169649CCA321236Uncertain_significancePrimary_ciliary_dyskinesia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100203141491474169995CT321248BenignPrimary_ciliary_dyskinesia..0.866610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100213141531474170321GA338910Likely_benignPrimary_ciliary_dyskinesia..0.295530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100226835651474419825GA667526Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100236694721474422843TC667703Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100246835661474422923TC667704Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100251288351474424938TC134283Benignnot_specified|not_provided0.303010.328130.18490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100261369821474428286AG140685Benignnot_specified0.83415..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100271288341474428445GA134282Benignnot_specified|not_provided0.384520.434630.345451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100283141611474526942AG321265BenignMethylmalonate_semialdehyde_dehydrogenase_defi.....0.322480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100293141651474527190AG338925BenignMethylmalonate_semialdehyde_dehydrogenase_defi.....0.241610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100303141661474527203GA321269BenignMethylmalonate_semialdehyde_dehydrogenase_defi.....0.993011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100313141781474537885TG338938BenignMethylmalonate_semialdehyde_dehydrogenase_defi...0.39320.41110.536740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100321678401474711883CT178152BenignMicrophthalmia,_isolated_6|not_specified|VSX2-...0.388360.421660.259980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100332596191474759006CT255050Benignnot_specified0.307240.327590.270370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100342596221474759301GT255051Benignnot_specified0.299250.324350.262980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100352596211474759477CT255052Benignnot_specified0.307470.328520.270370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100362596201474766352AG255053BenignMETHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_cbl...0.29902.0.262580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100373142541474966763GA337136Likely_benignPrimary_congenital_glaucoma|Weill-Marchesani_s.....0.299920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100387709971475230654TA702989Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100393143281475469634AG330581Uncertain_significanceLeukoencephalopathy_with_vanishing_white_matter...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100402603651475470446CA255061Benignnot_specified0.984470.995630.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100413143421475476071GC339147Benign/Likely_benignLynch_syndrome|Leukoencephalopathy_with_vanish.....0.517570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100423143451475480637TC337219Benign/Likely_benignLynch_syndrome|Leukoencephalopathy_with_vanish.....0.365220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100433143511475481368CT339162Likely_benignLynch_syndrome..0.345250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100443143561475481908AG337227Likely_benignLynch_syndrome..0.335660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100453143611475482443AGA330620Likely_benignLynch_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100463143641475482827CGAT321382Uncertain_significanceLynch_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100472572531475483812TC255063Benign/Likely_benignLynch_syndrome|not_specified0.501920.563440.580070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100482572521475513828GA255064Benign/Likely_benignLynch_syndrome|not_specified0.442640.412640.363820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100492572511475513883TC255065Benign/Likely_benignLynch_syndrome|not_specified0.988770.99680.990421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100503144041476045193GTCG339228BenignProliferative_vasculopathy_and_hydranencephaly......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10051958171476045691CT101714Benign/Likely_benignProliferative_vasculopathy_and_hydranencephaly...0.175230.167580.179311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100526771891476156609CT656263Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100536771901476201482GT667379Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100546771911476232398TC666618Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100556839941476429369CA667710Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100566839921476431674TC667392Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100573144701476543004GA337337BenignCranioectodermal_dysplasia0.24950.260740.168930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10058450021476957887TC54169Benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.996310.998620.992811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100593144961476967707TC337357Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.399960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100603145071477741394TC321465Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.291330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100613145191477741971GT339428Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.109430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100623145201477741977CT321479BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.852241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100633145251477742203TC337398Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.148361/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100643145261477742218CT339435BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.855831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100653145311477742582CT321492BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.511580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100663145361477742929CT337416BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.510980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100673145451477743132CT330773Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.144370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100683145521477743644GA339471Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.268570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100691669011477745193AC177616Benignnot_specified0.819470.817640.847051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100706680391477745376GA667724Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100712602971477746310GA255069Benign/Likely_benignnot_specified|not_provided0.12179.0.178510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100726715461477749874GA666659Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100736709671477750057TG667746Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100746741641477751238GA666664Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100756730221477751688AG667749Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100766680361477751729TC667760Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100771669061477751925CT177620Benignnot_specified0.8280.820820.858231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100782602901477755221TG255076Benignnot_specified|not_provided0.52161.0.476440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10079955331477757743GA101432Benignnot_specified.0.079690.110420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100806839601477762872CT667544Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100816839551477764771GA667766Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100826730211477764820TC666670Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100836680161477767382AG666673Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100846730201477778485TC667779Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10085955361477786863CA101435Benign/Likely_benignnot_specified|Limb-Girdle_Muscular_Dystrophy,_...0.041990.123050.083070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100863145651477787148CT321504Benign/Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive|not_.....0.052120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100871948861477896048CT192048Benignnot_specified|not_provided0.005770.006340.003190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100883145841477973953GGCA330820BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.851241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100893145851477973982TC321535BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.945091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100903145891477974181CA330822BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.596251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100913146031477974990CT330839BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.768971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100923146041477975015AT321542BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.947481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100933146061477975103TG337479BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.776161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100943146281477976325TC330855BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.760581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100956701401477984573CT667550Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100966705861477987958CA667792Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100976701381478018246TC667429Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100986705701478018614CT666680Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100996705691478023519CG667440Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101006701371478023714AG667563Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101013146721478028803AG330884BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.833850.902940.837460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101026701361478029082CT667565Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101036675231478036394GA667568Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101046705681478036899AGA667802Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101056705671478036935AG667443Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101063146811478082952CA337525BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.01665.0.027760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101076675221478083349CT667808Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101086740921478709814TC667570Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101092559541481574687TTTCTC255094Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101101354031481575005CA139142not_providednot_specified0.64247.0.610221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101111354001481610583GC139139Benign/Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non...0.923340.900380.896771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101123147051481610942CT339647Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non.....0.843251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101133147081481611128TC339648Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non.....0.284350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101143147111481611606CT337591Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non.....0.155750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101153147161481611919GC330908Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non.....0.293131|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101163147191481612114TC339661Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non.....0.293530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101173147271488399488AC339667BenignGalactosylceramide_beta-galactosidase_deficiency..0.488620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101183147291488399623TC337616BenignGalactosylceramide_beta-galactosidase_deficiency..0.447880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101193147311488399801CT337617BenignGalactosylceramide_beta-galactosidase_deficiency..0.488820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101203147321488399887TATCT330918BenignGalactosylceramide_beta-galactosidase_deficiency..0.493410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101213147341488400087CT339676BenignGalactosylceramide_beta-galactosidase_deficiency..0.94091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101223147361488400353CT339677BenignGalactosylceramide_beta-galactosidase_deficiency.0.436280.447480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101233147411488400486AG339688BenignGalactosylceramide_beta-galactosidase_deficiency..0.493410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10124925001488401213TC98409BenignGalactosylceramide_beta-galactosidase_deficien...0.95948.0.94071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101256803101488401392GA666692Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101266803071488406120CT667457Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101276803061488406127GC666693Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101284457921488407716TTA439064Likely_benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10129924991488407734GC98408BenignGalactosylceramide_beta-galactosidase_deficien...0.959640.983030.94091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10130924981488407875TA98407BenignGalactosylceramide_beta-galactosidase_deficien...0.96025.0.94091|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10131924971488407888AG98406Benign,_otherGalactosylceramide_beta-galactosidase_deficien...0.522390.44060.447480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10132924961488407917GA98405BenignGalactosylceramide_beta-galactosidase_deficien...0.431220.541290.488821|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101336826631488408221TC666696Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101346803041488411693AG667463Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101356803031488411803TC666699Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101361671181488411947TC177737Benignnot_specified0.960840.983190.942691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101376803021488412310GA667583Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10138924941488414211GA98403BenignGalactosylceramide_beta-galactosidase_deficien...0.408310.373370.366610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101396803001488416390AG666701Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101406802991488416441CT667585Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10141924931488417095GAG98402Conflicting_interpretations_of_pathogenicityAbnormality_of_brain_morphology|Galactosylcera......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101426802981488417244CT667590Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101436802961488417289AG667593Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101446826621488434409AT667475Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101458013971488852279TGT789778Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101462868661488862529GA271103Benign/Likely_benignLeber_congenital_amaurosis|not_specified|Retin...0.410950.347280.407550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101471307651489042180TG136211Likely_benignnot_specified0.59250.618780.485821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101482625161489307320TC255109Benignnot_specified0.198290.211530.18871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101493148071489343992GA337713BenignBardet-Biedl_syndrome|Retinitis_Pigmentosa,_Re.....0.199881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101506746131490863489GA656269Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101516833001490863870CT667831Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101526746141490866346CT667624Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101536687191490869913CT667628Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101541581181491739081AG167971Benignnot_specified0.922730.852410.805911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101551581101491763637CT167963Benignnot_specified0.586350.530360.494010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101567136231491766410CT725855Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101571580991491773494GA167951Benignnot_specified0.122680.159550.166330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101581580981491773568TC167950Benignnot_specified0.57940.533570.480430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101591581201491883967GT167973Benignnot_specified0.35478.0.363220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101606838691492336989CT667834Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101616835181492344300AG667632Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101626835161492347345CA666726Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101631634501492347680AG176093BenignMacular_degeneration|not_specified|Cutis_Laxa,...0.756810.76090.784941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101646835151492348975AG666729Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101656721161492499348TG667644Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101666677611492505600CA667904Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101671285101492549586GA133959Likely_benignnot_specified0.54160.502760.566690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1016814201492773663GT16459associationSkin/hair/eye_pigmentation,_variation_in,_6..0.260781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101695863771494187832CT577377Benignnot_provided0.582580.603170.49881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101705863761494245649AG577378Benignnot_provided0.728960.691980.585661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101715863781494245652CT577380Benignnot_provided0.45092.0.363020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101723150041494843565TC321840BenignAlpha-1-antitrypsin_deficiency..0.662540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101733150081494843818AG331149Likely_benignAlpha-1-antitrypsin_deficiency..0.696291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101743150091494843932AG321853Likely_benignAlpha-1-antitrypsin_deficiency..0.465061|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101753150151494844305CT331152Likely_benignAlpha-1-antitrypsin_deficiency..0.271970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101763150181494844470CA337963Likely_benignAlpha-1-antitrypsin_deficiency..0.25120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10177179551494847415AG32994Benign/Likely_benignPI_M1-ALA213|PI,_M1A|Alpha-1-antitrypsin_defic....0.221450.24940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10178180511495080803GA33090BenignANTICHYMOTRYPSIN_SIGNAL_PEPTIDE_POLYMORPHISM|n...0.40220.448020.399360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101793150631495554142TC331201BenignPleuropulmonary_blastoma|not_provided..0.172320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101803150751495555205CT321892BenignPleuropulmonary_blastoma..0.990021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101813150961495556508CAC331225Uncertain_significancePleuropulmonary_blastoma...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101823150981495556747AT321919BenignPleuropulmonary_blastoma|DICER1-related_pleuro.....0.908950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101835165801495581899GA505595BenignDICER1-related_pleuropulmonary_blastoma_cancer.....0.165740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101846768151495582544AC667564Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101856768141495595654TC667909Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101863799741496010424GA373305Benignnot_specified0.116560.119750.083070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101874023611496916228CT390143Benignnot_specified0.330330.405140.31510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101884023631496922752CG390149Benignnot_specified0.87060.838420.884591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101896756861497299591GA667649Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101901307311497299853AG136177BenignPontocerebellar_hypoplasia_type_1A|Pontoneocer...0.33090.356470.289540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101916808381497303816CT666770Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101926702711497303879AG666774Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101936702721497303954AG667566Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101946808431497304453TC667569Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101956702731497312188TC667650Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101966702741497312642GA667923Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101976727171497313402GT667925Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101986727181497323086AT667656Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101996808441497323184GT667931Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102006808411497323229CT667933Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102016756871497342500CG666781Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020266812014102492656AG667499Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020367935614102506308AG667276Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020468135914102507065GC666418Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020566890014102509953GC667286Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020667405614102510874GA667189Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020712892914102514227TC134376Benign/Likely_benignCharcot-Marie-Tooth_disease,_type_2|History_of...0.303630.229210.347240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020867936114102514713GA666440Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020912893214102515015GA134379Benign/Likely_benignCharcot-Marie-Tooth_disease,_type_2|not_specif...0.295330.231080.31450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021067936214102515171AG667301Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021131267214102517132CT335355Likely_benignCharcot-Marie-Tooth_disease,_type_2|Spinocereb.....0.027960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021267071014102875200AG666461Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021367023114102881323TG667506Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021438089014102891646AG373680Benignnot_specified0.369680.36270.305511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021538087314102894593GA375852Benignnot_specified0.965610.883340.860421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021667225714102897922GA667321Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021767074114102900336CT666468Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021867074214102900407GA667328Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021938090114102901023GA374019Benignnot_specified0.137010.086040.103240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022038089114102901201AG372957Benignnot_specified0.274180.282960.214860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022151666614102904551CCCCGCTCCCTGCTC504407Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022266754914102910423AG667241Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022367074314102911913TC667513Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022424092414102912150CA241780BenignSpastic_paraplegia_49,_autosomal_recessive|not...0.016450.01830.007190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022567074414102919047CT667339Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022667226014102964359CCGCCCAAGCTCCCAGCTCCATCTGT667346Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022737994214104029378CG375870Benignnot_specified|not_provided0.26937.0.234631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10228894414104165753GA23983risk_factorCutaneous_malignant_melanoma_6.0.307510.216851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022926160314105167807CT254882BenignFocal_segmental_glomerulosclerosis|Focal_segme...0.982270.978250.986621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023068364014105168414CT667250Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023168364114105176781GA667262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023226160614105177351CAC254892BenignFocal_segmental_glomerulosclerosis|Focal_segme...0.571710.610980.694891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023368192014105178089TC666487Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023468194014105178098GC666493Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023568194314105178153CT667557Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023668364214105178478TC667363Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023768194414105179043GC667364Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023868194614105179081GA667558Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023926161114105179194TC254897BenignFocal_segmental_glomerulosclerosis|not_specifi...0.88030.860830.909351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024068195014105180484CT667266Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024126161314105180565TC254899BenignFocal_segmental_glomerulosclerosis|not_specifi...0.797530.806020.844251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024226161714105180706AC254903BenignFocal_segmental_glomerulosclerosis|Focal_segme.....0.694891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024368195114105181848AG667567Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024468195314105181851CT667268Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024531272114105185666GT337289BenignFocal_segmental_glomerulosclerosis..0.548121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024676940314105196230AC702775Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024749867014105239894CT490094BenignCowden_syndrome_6|not_specified0.201630.314130.322480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024869529914105246325TA685395Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024980305314105268228GA791385BenignLethal_congenital_contracture_syndrome_6...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1025040234814105412009AG390106Benignnot_specified.0.454730.385180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102514029061520739825GA390122Benignnot_specified.0.08959.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102523153411523043896GA322078BenignSpastic_paraplegia,_autosomal_dominant..0.555710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102533153561523045127GA340084BenignSpastic_paraplegia,_autosomal_dominant..0.076880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102543153751523046314CG331344BenignSpastic_paraplegia,_autosomal_dominant..0.447880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102553153871523046770TTAA322041BenignSpastic_paraplegia,_autosomal_dominant..0.721450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102563153891523046848TC322040BenignSpastic_paraplegia,_autosomal_dominant..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102573153901523046855GT331337BenignSpastic_paraplegia,_autosomal_dominant..0.963861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102583153991523047266GA338174BenignSpastic_paraplegia,_autosomal_dominant..0.110220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102593154051523047702GC338164BenignSpastic_paraplegia,_autosomal_dominant..0.410140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102603154101523047857GA338158BenignSpastic_paraplegia,_autosomal_dominant..0.68790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102613154161523048392TACT338138BenignSpastic_paraplegia,_autosomal_dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102621298041523052632TC135250BenignSpastic_paraplegia_6|not_specified|Spastic_par...0.65370.735890.704070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102636676731523060625GC667672Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102646798471523086770GC666784Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102653154471525219512TC331389Likely_benignAutism_spectrum_disorder0.50964.0.521771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102662568181526806064TC255127Benignnot_specified0.342610.345620.473640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102676687991526806659GA667588Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102686687981526813137CT667971Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102696826571526825179AG667591Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102706802811526874395TC667689Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102716687921527017253GT667981Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102722568191527017536GA255131Benignnot_specified0.101740.222090.18690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102733779041527018797GA376374BenignSeizures|not_specified|not_provided0.115130.298250.198080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102742557301528090173CT255132BenignOculocutaneous_albinism|not_specified0.174690.262150.282750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102751956431528096538AG192804BenignOculocutaneous_albinism|not_specified0.496460.449260.50240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102762557221528211921GA255140BenignOculocutaneous_albinism|not_specified0.567050.563840.364021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102772557201528228644GA255141BenignOculocutaneous_albinism|not_specified0.531520.546020.321291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102781939861528231793TC191149BenignOculocutaneous_albinism|not_specified0.709130.779330.693291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102792557161528235773CT255145BenignOculocutaneous_albinism|not_specified0.598880.636720.410741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1028047451528365618AG19784associationSkin/hair/eye_pigmentation,_variation_in,_1..0.177320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1028147441528513364TC19783AffectsSkin/hair/eye_pigmentation,_variation_in,_1..0.388581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1028247431528530182CT19782associationSkin/hair/eye_pigmentation,_variation_in,_1..0.379591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102832604921531197564GA255152Benignnot_specified0.319520.459410.422520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102842604911531229420TC255153Benignnot_specified0.34820.47550.457070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102853155111531330280AG322164BenignCongenital_Stationary_Night_Blindness,_Recessive0.773620.810390.759391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102861938561531342744CT191019Benignnot_specified|Congenital_Stationary_Night_Blin...0.438990.541930.519171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102871963431531362352CT193504Benignnot_specified|Congenital_Stationary_Night_Blin...0.792640.799050.790941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102883155401531369123AG331492BenignCongenital_Stationary_Night_Blindness,_Recessive0.829530.844650.894371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102897828851532455479AG714380Likely_benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102902847631533191023AG269000Benignnot_specified0.665670.579540.657750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102914618371533855175CT464817Benignnot_provided0.02730.009870.027560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102924618921533916152TA463991BenignEpileptic_encephalopathy0.053920.016270.055310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102933155471534522557GA322184Likely_benignAndermann_syndrome..0.176921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102943155551534522935GAGACG331510Likely_benignAndermann_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102953155561534522985CG322193BenignAndermann_syndrome..0.967051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102963155611534523278GA331514Likely_benignAndermann_syndrome..0.177121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102973155651534523445TC338420Likely_benignAndermann_syndrome..0.215261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102983155671534523563CCG340191Likely_benignAndermann_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102993155811534524117ATTA338444Likely_benignAndermann_syndrome..0.176921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103003155821534524236GC340194Likely_benignAndermann_syndrome..0.173521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103013155871534524590AG340206BenignAndermann_syndrome..0.945691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103023155951534524995GT331534BenignAndermann_syndrome..0.789541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103036698871534527085CA666814Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103046701001534527713GA667989Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103056700981534528588GT667604Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103061598931534529776AG169111Likely_benignnot_specified0.147410.188980.207071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103076698821534534723AG667617Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103086700941534536090CT667620Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103091598911534536143GT169112Likely_benignnot_specified0.02862.0.021771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103106705661534537435CT667626Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103116700931534542730TC667990Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103126700921534542739GC666818Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103131391211534542872CG142824Benign/Likely_benignAndermann_syndrome|not_specified0.15602.0.207271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103146734521534543298GGA666820Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103151391201534544351CA142823Benignnot_specified0.1550.231260.206871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103161391191534544468CT142822Benign/Likely_benignAndermann_syndrome|not_specified0.1551.0.206871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103176698671534544852AT667633Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103186687551534546259AG666821Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103196700891534546434TC667698Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103206700881534546451GC667700Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103216705641534550009TTA667645Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103226700861534550118CT666825Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103236700851534550206CCAAAG667995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103241598981534551082GA169119BenignAndermann_syndrome|not_specified0.234110.251090.276761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103256674601534628322TC666835Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103261598921534628570CG169121Likely_benignnot_specified0.47239.0.487621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103273156281534629024CT340236Benign/Likely_benignAndermann_syndrome|Dyskeratosis_Congenita,_Rec.....0.210661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103286700841534629096TA666843Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103296798681534629167GA666846Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103303156311534634033AG340242Benign/Likely_benignAndermann_syndrome|Dyskeratosis_Congenita,_Rec.....0.210061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103313156331534634124CG338504BenignDyskeratosis_Congenita,_Recessive0.157870.17820.210061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103322610361534634324CG255154Benignnot_specified|Dyskeratosis_Congenita,_Recessive0.459920.368110.452881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103333156531535080931TC338520Likely_benignAtrial_septal_defect|Hypertrophic_cardiomyopat.....0.453671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103343156681535081574CT338564Likely_benignAtrial_septal_defect|Hypertrophic_cardiomyopat.....0.655951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103353156721535081694CTC338581Likely_benignAtrial_septal_defect|Hypertrophic_cardiomyopat.....0.145370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103363156941535082225CT338595Likely_benignAtrial_septal_defect|Hypertrophic_cardiomyopat.....0.278550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103376779561535085201CT667714Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103382575311536937405GT255156Benignnot_specified0.953940.955450.958071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103392575321536946303CG255157Benignnot_specified0.439830.535160.497010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103405618291538545725AC552838Benignnot_provided..0.842051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103415618301538591300AG552839Benignnot_provided..0.802321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10342413711538614525GA49795Benign/Likely_benignLegius_syndrome|not_specified|not_provided0.825840.863750.800121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103435618831538614883TAAGAGCTTGAAGGT552840Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103445618311538616645TC552841Benignnot_provided..0.764781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103455614791538616815GA552842Benignnot_provided..0.908951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103465618321538617282AG552845Benignnot_provided..0.796331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103475614061538631840TC552846Benignnot_provided..0.799321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10348414521538631920GA49890BenignLegius_syndrome|not_specified|not_provided0.250270.226540.177921/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10349414531538631930CA49891Benign/Likely_benignLegius_syndrome|not_specified|not_provided0.825460.86370.799321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103505614071538632148AG552847Benignnot_provided0.906910.974710.909551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103515614801538641891AG552848Benignnot_provided..0.799321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103525614811538642971GC552849Benignnot_provided..0.799121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103535614821538643009GA552850Benignnot_provided..0.799321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103545614831538643031CT552851Benignnot_provided..0.798921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10355413701538643574TC49794Benign/Likely_benignLegius_syndrome|not_specified|not_provided0.82538.0.799521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103563157531538645521ACTATA331665Likely_benignLegius_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103573157621538646696GA322368Likely_benignLegius_syndrome..0.137580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103583157741538647695GA331693Likely_benignLegius_syndrome..0.164740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103593157751538647811GA340362Likely_benignLegius_syndrome..0.954071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103603157801538648527TA322372Likely_benignLegius_syndrome..0.767371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103613157851538648797AG338686Likely_benignLegius_syndrome..0.157950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103623157891538648975CT322393Likely_benignLegius_syndrome..0.753791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103636746581540226294AG666878Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103643811781540226495TC374053BenignPulmonary_venoocclusive_disease_2,_autosomal_r...0.898620.911170.960061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103656746591540231500AG667716Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103666746601540231625AT667720Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103676746611540232001CA668007Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103686723851540232115GGA667659Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103696746381540247689AG668011Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103706834891540253674GA666885Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103716834921540253723CG668013Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103726780931540253743GT667668Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103736746391540253819CT668022Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103746746401540254155AG666888Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103756781141540254332TC668026Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103766834941540257615AG667673Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103776746411540259504GA666895Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103786746421540265404TC666897Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103793811791540265799AG374061BenignPulmonary_venoocclusive_disease_2,_autosomal_r...0.942670.888310.844450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103806746621540270214AG666909Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103816746631540278192TC667723Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103826746641540282625TC668037Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103836746651540282701TC667729Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103846746671540284523CT667734Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103856746681540284802CT667680Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103866746691540285120AG666912Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103876746701540291140CT668039Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103886746711540300092TC666913Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103893811811540300214GC374485BenignPulmonary_venoocclusive_disease_2,_autosomal_r...0.350640.393170.380190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103906834951540312838GA667683Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103913811831540313083GT373397BenignPulmonary_venoocclusive_disease_2,_autosomal_r...0.938580.918880.868211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103926746721540314526GA667743Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103933811851540322552GT374064BenignPulmonary_venoocclusive_disease_2,_autosomal_r...0.930310.914430.905551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103946834961540324075GC666915Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103956746731540324837CT667684Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103964028231540328665GA390230Benignnot_specified0.606230.611730.457871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103971337801540477831GA137519Benignnot_specified0.735970.656620.628191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103982576321540488851GA255165Benignnot_specified0.22643.0.19070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103992576341540500986CT255167Benignnot_specified0.466710.491570.396971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104008030661540509600AG791443BenignMosaic_variegated_aneuploidy_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10401940531540699940TC99955BenignIsovaleryl-CoA_dehydrogenase_deficiency|not_sp...0.595570.683770.647960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104021977401540703609AG194901Benignnot_specified..0.978441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104032585911540705159TC255172Benignnot_specified0.329310.462620.466050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104042585901540708422AG255173Benignnot_specified0.577270.678570.632190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104053158151540711270CG322414BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.507390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104063158201540711933GA331727BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.586860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104073158211540712039CG322429BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.506790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104083158221540712072CT340379BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.506990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104093158231540712348AGA322434BenignIsovaleryl-CoA_dehydrogenase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104103158281540712737TC331736BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.611220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104113158341540713306TC338723BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.507190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104123158371540713490CAC322437BenignIsovaleryl-CoA_dehydrogenase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104136729131540762879AG666917Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104141287691540764549GA134218Benignnot_specified0.145470.103940.153360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104151285861540898643GC134035Benignnot_specified|Primary_Microcephaly,_Recessive0.822180.745650.653751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104161285951540903684AG134044Benignnot_specified|Primary_Microcephaly,_Recessive.0.787840.705271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104171285881540913840GT134037Benignnot_specified|Primary_Microcephaly,_Recessive0.821710.745540.653951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104181285891540914177TC134038Benignnot_specified|Primary_Microcephaly,_Recessive0.391470.39240.351440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104191285901540914772CT134039Benignnot_specified|Primary_Microcephaly,_Recessive0.389890.392840.350840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104201285931540915045TG134042BenignPrimary_autosomal_recessive_microcephaly_4|not...0.39320.392340.351240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104213158541540915190AG322446BenignPrimary_Microcephaly,_Recessive0.869470.758910.705671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104221285961540915894TC134045Benignnot_specified|Primary_Microcephaly,_Recessive0.392790.393480.351840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104231285981540916237AG134047Benignnot_specified|Primary_Microcephaly,_Recessive0.32820.327040.203471|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10424131281540987528GC28167risk_factorBreast_cancer,_susceptibility_to,_in_BRCA1_and.....0.143171|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104256782731542688772AG668072Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10426924061542694944TC98317Benignnot_specified|not_provided0.780680.692790.719450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104276782771542697231CG667772Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104286680591542701203GC668088Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104296782781542701688TC667780Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104306783051542703406TC668100Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104312865941542704105CT270831BenignLimb-girdle_muscular_dystrophy,_type_2A|not_sp.....0.991211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104321306471543044852TC136093Benign/Likely_benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.012240.009460.003990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104333160021543212818CG338921BenignSpinocerebellar_Ataxia,_Dominant..0.538741|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104342628951543256121TC255211Benignnot_specified0.859580.864160.844851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104352628981543352041GA255215Benignnot_specified0.859040.86260.844451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104362551491543499393GA255217Conflicting_interpretations_of_pathogenicitySpherocytosis_type_5|not_specified|Spherocytos...0.016150.01740.005390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104371653041543893733CT176109Benignnot_specified0.043790.046670.018170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104382270821543903129AG230573Benignnot_specified.0.02814.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104396701151544903285CA666939Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104401946761544907562TC191839BenignSpastic_paraplegia_11,_autosomal_recessive|not...0.010240.009930.004390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10441412711544943757AG49695BenignSpastic_paraplegia_11,_autosomal_recessive|not...0.47930.465950.474841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104423161251545385496AT340597Likely_benignCongenital_hypothyroidism..0.230230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104433161261545385626CT332071Likely_benignCongenital_hypothyroidism..0.103240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104443161291545385895AG322587Likely_benignCongenital_hypothyroidism..0.096850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104453161301545385916CT340603Likely_benignCongenital_hypothyroidism..0.225240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104462603271545386806GC255228Benign/Likely_benignCongenital_hypothyroidism|not_specified0.084280.068350.070490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104472603241545391566AT255230BenignCongenital_hypothyroidism|Thyroid_dyshormonoge...0.991610.99770.991411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104482603231545392075GA255231BenignCongenital_hypothyroidism|Thyroid_dyshormonoge...0.702740.864440.720250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104492603221545393014GC255232Benignnot_specified0.035330.048040.031350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104502603211545397831GA255233Benign/Likely_benignCongenital_hypothyroidism|not_specified0.165870.098180.152961|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104512603201545397889CT255234Benign/Likely_benignCongenital_hypothyroidism|not_specified0.078430.06730.06291|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104522603191545398314GA255235Benign/Likely_benignCongenital_hypothyroidism|not_specified0.078660.067280.06311|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104532603181545398369CT255236Benign/Likely_benignCongenital_hypothyroidism|not_specified0.04965.0.033150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104542603171545398438TC255237Benign/Likely_benignCongenital_hypothyroidism|not_specified0.181030.102070.164940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104552603151545400358CG255239BenignCongenital_hypothyroidism|Thyroid_dyshormonoge...0.85668.0.861421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104562603261545404066GA255241BenignCongenital_hypothyroidism|Thyroid_dyshormonoge...0.743150.862420.759980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104572633021545408414CG255242BenignThyroglobulin_synthesis_defect|not_specified0.864380.962070.858431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104582633031545408699CT255243BenignThyroglobulin_synthesis_defect|not_specified0.702520.841850.682910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104592633041545408710AG255244BenignThyroglobulin_synthesis_defect|not_specified0.93514.0.920331|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104602633051545408933TC255245BenignThyroglobulin_synthesis_defect|not_specified0.753440.876460.764180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104612633061545409271CT255246BenignThyroglobulin_synthesis_defect|not_specified0.705650.851680.684110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104622259571545620985CT227779drug_responsehmg_coa_reductase_inhibitors_response_-_Toxici.....0.587461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104633162001545653367GA340648BenignArginine:glycine_amidinotransferase_deficiency..0.717651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104643162011545653394CT339114Likely_benignArginine:glycine_amidinotransferase_deficiency..0.055310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104653162031545653572CCTG322635BenignArginine:glycine_amidinotransferase_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104663162041545653592AG332157BenignArginine:glycine_amidinotransferase_deficiency..0.617811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104673162061545653707TC340649BenignArginine:glycine_amidinotransferase_deficiency..0.450681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104681291371545654327AG134583BenignArginine:glycine_amidinotransferase_deficiency...0.533940.532930.717651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104696807451545655903TC667783Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104706826701545660758CG667717Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104711291381545661678TA134584BenignArginine:glycine_amidinotransferase_deficiency...0.43496.0.618611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104726840691545668547AC668109Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104736807441545668565TC668114Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104746840681545670316GA668116Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104753162151545670851GA340655BenignArginine:glycine_amidinotransferase_deficiency.0.553330.443891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104766840651545671325AG667726Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104772259511545673029TC227780drug_responsehmg_coa_reductase_inhibitors_response_-_Toxici.....0.450881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104782558741548580713TC255252Benign/Likely_benignBartter_syndrome,_type_1,_antenatal|not_specif...0.997440.999240.99781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104793162851548595192GT339194BenignAntenatal_Bartter_Syndrome..0.735221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104803162901548595366AG332223BenignAntenatal_Bartter_Syndrome..0.696091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104813162941548596166AT332230BenignAntenatal_Bartter_Syndrome..0.820691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104823163101548701029CT332247BenignEctopia_lentis|Marfan_syndrome|Acromicric_dysp.....0.782351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104833163291548701612AC340715BenignEctopia_lentis|Marfan_syndrome|Acromicric_dysp.....0.656951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104843163511548702457CA322767BenignEctopia_lentis|Marfan_syndrome|Acromicric_dysp.....0.919331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104853163541548702873GA339275BenignEctopia_lentis|Marfan_syndrome|Acromicric_dysp.....0.600041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104866779881548703823AG668117Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104876805801548705206TC667796Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104886723141548713996GT666958Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104896805791548720271CT666959Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104901373121548720526GC141015Benignnot_specified0.67840.740380.655951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104916805781548724768CT668138Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104926805771548733625CT667738Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104936805751548737126TTAA667828Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104946805741548739274AG668140Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104956805691548744489CA667847Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104962283141548807637CT230590BenignMarfan_syndrome|Thoracic_aortic_aneurysm_and_a....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104976723111548903126AG667816Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104986784851548937339GA668201Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104996783441549048965GC667824Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105006783291549052669AC666999Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105016698441549060083GT667825Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105026698151549060166CG667883Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105036783281549060725TC667830Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105046783331549083198CT667002Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105051582741549083577CT169172BenignSeckel_syndrome|not_specified|Primary_Microcep...0.412840.397450.344651|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105066680651549087934TC667003Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105071367191549090175GA140422Benign/Likely_benignSeckel_syndrome|not_specified|Primary_Microcep...0.00740.053450.086860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105086783321549098016CA667840Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105093164361549103244TC332325BenignSeckel_syndrome|Primary_Microcephaly,_Recessive..0.197091|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1051048071550878630GA19846risk_factorAmyotrophic_lateral_sclerosis-parkinsonism/dem....0.087030.075880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105116779971551200754CT667888Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105126779981551200839AC667845Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105136780001551204133CT667849Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105143807681551204364GA373594BenignSpastic_paraplegia_51,_autosomal_recessive|not...0.562790.565290.55910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105151284011551217361TC133850BenignSpastic_paraplegia_51,_autosomal_recessive|not...0.437130.435150.44090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105166780011551217475GA667010Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105176679661551217674AG668205Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105186780021551220989GA667013Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105196679671551223449CG667851Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105206780031551234178AG667852Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105216800641551251122TG667900Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105226679681551260875TA668218Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105236800661551291056AC667859Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105246780041551291576GA668220Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105252556501552643564GA255284BenignGriscelli_syndrome_type_1|not_specified0.146360.154280.148560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105262556391552681573AG255294Benignnot_specified.0.96880.962461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105273164861553806154CG339375Likely_benignAmelogenesis_Imperfecta,_Recessive..0.026961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105283165031553807088CA339378BenignAmelogenesis_Imperfecta,_Recessive..0.527161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105293165371553807399CT322920BenignAmelogenesis_Imperfecta,_Recessive..0.904351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105303165431553807964AC332461BenignAmelogenesis_Imperfecta,_Recessive..0.931711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105313165441553807998CT340846BenignAmelogenesis_Imperfecta,_Recessive..0.904551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105323165631553808842GA340888BenignAmelogenesis_Imperfecta,_Recessive..0.932111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105333165821553815527AAGA340892Uncertain_significanceAmelogenesis_Imperfecta,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105342629981553994493AG255300Benignnot_specified|Amelogenesis_Imperfecta,_Recessive0.56290.579170.639780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105352630031554003091GA255301Benign/Likely_benignnot_specified|Amelogenesis_Imperfecta,_Recessive0.404890.41130.320890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105362630021554008795TC255302Benignnot_specified|Amelogenesis_Imperfecta,_Recessive0.757980.746870.74920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105372630011554008845TC255303Benignnot_specified|Amelogenesis_Imperfecta,_Recessive0.959380.98820.959471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105382630001554008889GAG255304Benign/Likely_benignnot_specified|Amelogenesis_Imperfecta,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105393690921555495151GA353321BenignGriscelli_syndrome..0.266571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105403166111555495698CT339482BenignGriscelli_syndrome..0.265381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105413166121555495774AG339485BenignGriscelli_syndrome..0.265181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105423166131555495779AT339493BenignGriscelli_syndrome..0.265581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105433166181555495963TC322988BenignGriscelli_syndrome..0.265181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105443166211555496043TA332533BenignGriscelli_syndrome..0.265381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105453166221555496058AC339506BenignGriscelli_syndrome..0.265381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105463166241555496111TC340922BenignGriscelli_syndrome..0.265181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105473166271555496278CT340924BenignGriscelli_syndrome..0.265181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105483166281555496287AT332547BenignGriscelli_syndrome..0.265381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105493166331555496756TC339514BenignGriscelli_syndrome..0.264981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105503166341555496769GT340931BenignGriscelli_syndrome..0.265181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105513166361555496853GA322989BenignGriscelli_syndrome..0.326681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105522594421555497691GA255305Benignnot_specified|Griscelli_syndrome0.284730.200730.264781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105532623151555759193TC255310Benignnot_specified0.451490.583830.528360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105547884491558302887TC714508Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105553166601558834741GT323001BenignHepatic_lipase_deficiency0.57889.0.478041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105563166661558838038CG323007BenignHepatic_lipase_deficiency0.423580.428910.303511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105573166731558853079CA323013BenignHepatic_lipase_deficiency0.945330.968750.93611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105583166741558853109AG339577BenignHepatic_lipase_deficiency0.945480.968750.93591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105597707871562219337GA703274Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105606687671563334688GC667916Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105616840191563340292CT667936Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105626687681563341238GC667868Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105636786221563349564CT667948Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105646840221563351488GA667950Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10565318881563351840CA40548Benign/Likely_benignHypertrophic_cardiomyopathy|Familial_hypertrop...0.635710.673680.705670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10566318891563351873TC40549Benign/Likely_benignHypertrophic_cardiomyopathy|not_specified|Card...0.05090.053310.024161|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105676719481563352092GA667955Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105686781581563357852TG667892Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105696749341564448365CT667895Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105706751891564448460AT668247Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105713167151565255704CT323041BenignSpastic_Paraplegia,_Recessive..0.454070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105726675151565272892CA667960Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105736701171565273399TC667961Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105746701161565273595GA667963Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105753167291565282191GA323048BenignSpastic_Paraplegia,_Recessive..0.539940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105766842651565308583CG667897Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105776842641565315735TG668255Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105786842611565316386TC667041Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105791293081565369395CT134754BenignNemaline_myopathy_6|not_specified|Nemaline_Myo...0.395710.400320.521770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105801293091565369531GT134755Benignnot_specified|Nemaline_Myopathy,_Dominant0.375470.402420.50160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105811293111565369951AG134757BenignNemaline_myopathy_6|not_specified|Nemaline_Myo...0.880460.885290.903751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105821293071565370353TC134753Benignnot_specified|Nemaline_Myopathy,_Dominant0.989640.996090.989421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105833167561565370652TC341058BenignNemaline_Myopathy,_Dominant..0.390780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105843167571565370835CT323067BenignNemaline_Myopathy,_Dominant..0.889381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105853167591565371050AG323072BenignNemaline_Myopathy,_Dominant..0.343250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105863167641565371427AG341062BenignNemaline_Myopathy,_Dominant..0.383190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1058763121565494212AG21351risk_factorLumbar_disc_disease,_susceptibility_to.0.568220.496610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105883168131565947135CA341089Likely_benignCongenital_Stationary_Night_Blindness,_Recessive.0.050220.020370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105893168161565947183GA323100Likely_benignCongenital_Stationary_Night_Blindness,_Recessive.0.128860.026560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10590407041566679601GC49174Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.163740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10591407841566727597GC49254Benignnot_specified0.27315.0.270770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105925613831566728951AC552857Benignnot_provided..0.184110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105935615401566735925CCAG552859Benignnot_provided..0.976841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105945618181566736741CT552861Benignnot_provided..0.319690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105955613841566773975GA552863Benignnot_provided..0.158550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10596445861566782108CTATTC53753BenignNoonan_syndrome|Cardio-facio-cutaneous_syndrom......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105973168411566783261CA332760Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.183110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105982401761566995716CT242095BenignLoeys-Dietz_syndrome_30.02094..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105991392161567358478GA142919BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_...0.213020.376990.223640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106006723621567430223TC667052Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106016838411567430733TC668281Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106028115431567442596CT799816BenignLoeys-Dietz_syndrome_3...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106031392171567457335AG142920BenignLoeys-Dietz_syndrome|Loeys-Dietz_syndrome_3|Th...0.880.863520.834071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106046723631567457485GC667970Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106056723641567458930CT667978Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106066838441567476735GA667985Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106076838471567476756CT668288Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106086838481567476768CT667905Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106096731391567476952GT668299Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106106731401567476970TC668313Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106113168731567483276CT332783BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.25160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106123168891567483717GA341152Likely_benignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.010580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106133168921567483979GA339754BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.253390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106143168961567484119GA341159BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.25280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106153169021567484297CT339761BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.25280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106163169291567485101GA323180BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.170530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106173169341567485156CT339769BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.25180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106183169471567485667CT332862BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.254790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106198031031567528374TG791480BenignKeratosis_palmoplantaris_papulosa...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106203690981568499321TC353327BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.484230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106213169701568499661GA339790BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.404950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106226680981568501710CT667994Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106236680971568506978TG668008Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106245603401568510770AG551393BenignCeroid_lipofuscinosis_neuronal_6..0.476040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106257687171569715488CT778135Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106264457261572105928ACA438998Likely_benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106277916391572122642CT714580Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106283170331572635829AC332971BenignTay-Sachs_disease..0.693291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106293170351572635903CT341250BenignTay-Sachs_disease..0.692891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10630931911572637795TC99098BenignTay-Sachs_disease|not_specified|not_provided0.869540.964140.8771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106316840961572638128TC668211Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10632931891572638892TC99096BenignTay-Sachs_disease|not_specified|not_provided0.870.964330.87641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106331667331572987588GT177512BenignBardet-Biedl_syndrome_1|not_specified0.938550.983280.941891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106342621431573002035GA255348BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.938650.983080.942091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106351667341573023937TC177513Benignnot_specified|not_provided0.956040.987460.960461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10636217341573027478TC34586BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.532720.574320.428910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106373170731573030536GT341280Likely_benignBardet-Biedl_syndrome..0.111220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10638952851573614834TC101184Benignnot_specified|Cardiovascular_phenotype|not_pro...0.87519.0.859631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106392597791573616635TC255358Benignnot_specified|not_provided0.799080.875810.772961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106406835431573617035AG667065Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106411375391573621946GA141242Benignnot_specified|Cardiovascular_phenotype0.073980.085650.053120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106421375371573660505CT141240Benignnot_specified|Cardiovascular_phenotype0.036950.061310.024960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106436835441573661687TG668358Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10644143611574219582GA29400risk_factorExfoliation_syndrome,_susceptibility_to.0.184940.24761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10645143621574222202TC29401risk_factorExfoliation_syndrome,_susceptibility_to..0.712861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106464033291574328116AG390172Benignnot_specified0.499080.522590.551921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106474033301574328141GT390173Benignnot_specified0.346420.35990.351240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106483170851574472199CT341282BenignSyndromic_Microphthalmia,_Recessive..0.532751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106496749541574477216GA668018Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106506749531574477239GA667943Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106515110791575041917CA505375Likely_benignnot_specified..0.629791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106526757981575047426CT656305Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10653940671575183935GA99969BenignCongenital_disorder_of_glycosylation|Congenita...0.381550.368910.213660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10654940691575185670AG99971BenignCongenital_disorder_of_glycosylation|Congenita...0.47120.437470.338260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10655940661575189930AG99968BenignCongenital_disorder_of_glycosylation|Congenita...0.47150.437640.338660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106563171521576508684TA333071BenignGlutaric_aciduria,_type_2..0.974241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106576816721576580527CT667092Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106586838231576580547CT668379Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106596801031576587777CT668384Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106606762331576603928CT668019Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106618109001577310636GC799822BenignPyogenic_arthritis,_pyoderma_gangrenosum_and_acne...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106624402051577324880AG433868BenignPyogenic_arthritis,_pyoderma_gangrenosum_and_a.....0.531751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106636687181577327571TC668044Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106647687191578369959GC703352Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106652265151578401620CT230606Benignnot_specified|not_provided0.02550.024810.011780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106664027891578558584CATC390183Likely_benignnot_specified0.035240.032160.018370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10667174971578882925GA32536drug_responseLung_cancer_susceptibility_2|Smoking_as_a_quan....0.267670.149561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10668175031578894339GA32542drug_responseLung_cancer_susceptibility_2|Smoking_as_a_quan...0.271920.272970.168131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106693804471580450383GA376678Benignnot_specified0.008920.003280.009581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10670924461580450389GA98355BenignHypertyrosinemia|Tyrosinemia_type_I|not_specified0.446330.514060.506790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106712552791580452075TC255370Benignnot_specified0.602650.609830.632990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106722552801580452268GA255371Benignnot_specified0.6081.0.640380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106732552821580460524AG255373Benignnot_specified0.727050.739070.778750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106743172171580478599ACA339979Likely_benignHypertyrosinemia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106753172191580478645TC339984Likely_benignHypertyrosinemia..0.112620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106763172211580478835CG341367Likely_benignHypertyrosinemia..0.051120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106773172221580478861TA323442Likely_benignHypertyrosinemia..0.112620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106787100561583349637GA726305Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106797730511584527509CG778145Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106806793981585188994TC656313Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106811308391585333953AG136283Benign/Likely_benignGalloway-Mowat_syndrome_1|not_specified0.752770.750130.783951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106823821551585360101TC374366Benignnot_specified0.855640.818870.864821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106836780871585361042TG667974Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106846784411585370597CG668413Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106853793611585382193CA374372Benignnot_specified0.659180.67080.725841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106863821541585383145CG374781Benignnot_specified0.198480.220230.136381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106873846851585383640GA374791Benignnot_specified0.197340.221950.137981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106883837841585383839GA374381Benignnot_specified0.67510.678950.743611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106896830731585384431AG668048Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106903837851585401259CT374427Benignnot_specified0.789120.764420.804711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106913846741585401419TC376712Benignnot_specified0.837720.827640.847841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106926784771585402431GA667134Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106936785411585402795AG668424Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106946785421585403496GA668061Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106953846911585405995TC376720Benignnot_specified0.199550.224190.150360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106966830741585406494AC668431Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106976780881585407564AC668066Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106983846761585411692CT376731Benignnot_specified0.249730.307460.394970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106992849801589392745TC269217Benignnot_specified0.99010.990960.995611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107002838361589400339AC268073Benignnot_specified0.568950.534810.424120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107013172281589753220CT341371BenignPigmentary_retinal_dystrophy|Newfoundland_rod-.....0.347641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107023172301589753349AC339987BenignPigmentary_retinal_dystrophy|Newfoundland_rod-.....0.915941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107033784791589754954GA374448Benignnot_specified0.318820.337420.256191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107042574841589804043CT255379BenignFanconi_anemia|not_specified|not_provided0.28628.0.259781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107052574861589804111GA255380Benignnot_specified0.475610.416380.449281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107062574901589806710CT255381Benignnot_specified0.348050.381970.338861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107072574911589806721GA255382Benignnot_specified0.370670.380820.338261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107082574811589826496CT255383BenignFanconi_anemia|not_specified0.4680.417310.43931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107092574821589836228GC255384BenignFanconi_anemia|not_specified|not_provided0.28994.0.264981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107104396941589838236GA433550Benignnot_specified|not_provided0.960070.959350.980831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107112574851589838318AT255386Benign/Likely_benignFanconi_anemia|not_specified|not_provided0.082930.094670.05951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107122574871589844688AC255387BenignFanconi_anemia|not_specified0.367210.394380.362621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107132109871589857711AATACAAG208225Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107142574891589858602TC255389Benign/Likely_benignFanconi_anemia|not_specified|POLG-Related_Spec...0.40960.412260.412341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107153173061589859932AAC340026Benign/Likely_benignFanconi_anemia|POLG-Related_Spectrum_Disorders...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107163173211589860350AC323507BenignFanconi_anemia|POLG-Related_Spectrum_Disorders.....0.445891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107176193931589860427CT610810Benign/Likely_benignProgressive_sclerosing_poliodystrophy|not_prov.....0.442291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107181387631589860786AC142466BenignProgressive_sclerosing_poliodystrophy|not_spec...0.435450.420950.419931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107191387541589862341AG142457Benign/Likely_benignFanconi_anemia|Progressive_sclerosing_poliodys....0.374710.298121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107206194921589862366TC610823BenignProgressive_sclerosing_poliodystrophy0.312130.37190.291131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107216193861589864316GGCTAC610835BenignProgressive_sclerosing_poliodystrophy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107226807141589865692TC667155Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107236679711589866286GA667992Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107246193851589867154AG610855BenignProgressive_sclerosing_poliodystrophy0.576860.499090.547321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107256679691589869666GA667163Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107266679511589871499TC668455Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107276807131589873797AG667167Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107286807121589876043CG668132Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107296957361589878391TC685411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107302631451590173734CCAG255399BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.57432.0.492211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10731966551590174789CT102548BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.544720.5270.451081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10732966531590174824CT102546BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.531280.512820.43931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10733966521590174955CT102545BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.559270.541630.451081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10734966511590176073CA102544BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.537310.525460.43831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107351294131590176432TG134859BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.87048.0.794531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107366839801590189758AC668467Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107372631381590190048AG255406BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.618480.569670.511781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10738966491590191827TC102542BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.923010.891220.861421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107391294081590195967CG134854BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.92563.0.860221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107401299721590209135GA135418Benignnot_specified0.031130.088230.020770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107411299701590210263AG135416Likely_benignnot_specified0.381060.379660.396370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107421299731590213229GC135419Likely_benignnot_specified0.98938.0.895771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107433691041590321996CT353333BenignJarcho-Levin_syndrome..0.575280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107442547781591312313GA255426Benignnot_specified0.169950.15530.160940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10745923921591312823TC98303BenignBloom_syndrome|not_specified|not_provided0.381930.295590.366610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10746923941591337479GA98305Benign/Likely_benignBloom_syndrome|Hereditary_cancer-predisposing_...0.184560.161130.151160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107472547801591341599TG255428Benignnot_specified0.176450.158910.144770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107482105291591346630CCA208234Likely_benignnot_specified..0.703081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10749923951591346923CA98306Benign/Likely_benignBloom_syndrome|Hereditary_cancer-predisposing_...0.162720.155270.133190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10750923961591354505CT98307Benign/Likely_benignBloom_syndrome|Hereditary_cancer-predisposing_...0.164560.155680.132790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107512105301591358271GGGAA208235Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107521576461591509592TC167495Uncertain_significanceFamilial_cancer_of_breast..0.655551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107531576441591511260AG167493Uncertain_significanceFamilial_cancer_of_breast..0.755391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107541576401591517780GC167489Uncertain_significanceFamilial_cancer_of_breast0.507310.50640.743011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107551576351591523036CT167484Uncertain_significanceFamilial_cancer_of_breast..0.495211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107561576321591525197CT167481Uncertain_significanceFamilial_cancer_of_breast0.367150.308370.470651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107571576301591527451TA167479Uncertain_significanceFamilial_cancer_of_breast..0.422131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107581576311591530820AG167480Uncertain_significanceFamilial_cancer_of_breast..0.484631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107592610411591543761CT255432BenignArthrogryposis,_renal_dysfunction,_and_cholest...0.56127.0.767771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107602610371591548601GA255435BenignArthrogryposis_with_renal_dysfunction_and_chol...0.09483.0.208071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107613174361591565804AG341554BenignArthrogryposis_with_renal_dysfunction_and_chol.....0.756591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107626694021593470217GGTATGTT667173Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107636680751593472582CT668143Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107646680761593485456CG668478Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107656680771593489747CT668028Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107666802171593497038GA668480Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107676680781593499385AG668158Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107682577061593510603AG255443BenignHistory_of_neurodevelopmental_disorder|not_spe...0.765590.841940.826481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107696680791593510994GT668166Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107702577081593521604AG255445BenignHistory_of_neurodevelopmental_disorder|not_spe...0.747650.835250.809111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107716789261593522312GA667191Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107726802201593524867GA667193Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107736789281593527794AT668498Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107746680801593527988GC668173Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107756680811593528473TC668180Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107762577091593536197CT255446BenignHistory_of_neurodevelopmental_disorder|not_spe...0.24850.226580.193491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107776789301593540089TC668187Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107786789321593543531AT667200Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107796680821593545831GT668508Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107806680831593547575TC667204Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107816802211593555717AG668063Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107822577131593567864AC255450BenignHistory_of_neurodevelopmental_disorder|not_spe...0.314680.294620.18650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107832849321599456253TC269169Benignnot_specified0.469430.577520.511180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107841990421599459278CT196202Benignnot_specified|not_provided0.007240.007290.004790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107852822151599459314GT266452Conflicting_interpretations_of_pathogenicityInsulin-like_growth_factor_1_resistance_to|not...0.003540.003610.0020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107861946101599478225GA191773BenignInsulin-like_growth_factor_1_resistance_to|not...0.402680.397190.335661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107873175001599501929GAG340150BenignInsulin-like_growth_factor_1_resistance_to...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107883175351599503199GGTG323741BenignInsulin-like_growth_factor_1_resistance_to...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107893175391599503521CCTT340170BenignInsulin-like_growth_factor_1_resistance_to...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107903175461599503800GT341605BenignInsulin-like_growth_factor_1_resistance_to..0.483231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107913175701599504671CT341626BenignInsulin-like_growth_factor_1_resistance_to..0.590451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107923176371599506942CT340252BenignInsulin-like_growth_factor_1_resistance_to..0.989421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079331516315100512594AC323871BenignWeill-Marchesani_syndrome_4..0.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079431517815100512878CT340296Likely_benignWeill-Marchesani_syndrome_4..0.014780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079531519015100513318AC333587BenignWeill-Marchesani_syndrome_4..0.584470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079631519215100513364GA323891BenignWeill-Marchesani_syndrome_4..0.581670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079731519315100513372ACCTTA341712BenignWeill-Marchesani_syndrome_4...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079831519615100513524TC341714BenignWeill-Marchesani_syndrome_4..0.588060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079931519715100513529CT333598BenignWeill-Marchesani_syndrome_4..0.587860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080031520115100513587CTGGGCTC340315Conflicting_interpretations_of_pathogenicityWeill-Marchesani_syndrome_4...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080131520715100513707AG341719BenignWeill-Marchesani_syndrome_4..0.536740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080231520815100513722TC340319BenignWeill-Marchesani_syndrome_4..0.573880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080331521015100513725CG333602BenignWeill-Marchesani_syndrome_4..0.577680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080431522115100514040CG323900BenignWeill-Marchesani_syndrome_4..0.586460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080531522215100514063CT341724BenignWeill-Marchesani_syndrome_4..0.583670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080631522415100514097GA323905BenignWeill-Marchesani_syndrome_4..0.660940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080731522515100514109TG340341BenignWeill-Marchesani_syndrome_4..0.593850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080831523015100514178TG323910BenignWeill-Marchesani_syndrome_4..0.588460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080931523415100514194CCAGAATAAAGCCTTT340349BenignWeill-Marchesani_syndrome_4..0.584670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081031523615100514291AG323914BenignWeill-Marchesani_syndrome_4..0.586660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081131524315100514494TC340365BenignWeill-Marchesani_syndrome_4..0.590060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081231524515100514525CT323916BenignWeill-Marchesani_syndrome_4..0.338460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081331524615100514561GC323920BenignWeill-Marchesani_syndrome_40.64670.62819.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081431524815100514614TC341746BenignWeill-Marchesani_syndrome_40.71444.0.679510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081531528615100672237TG340003BenignWeill-Marchesani_syndrome_40.99839.0.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081631530415100801698GA338092BenignWeill-Marchesani_syndrome_40.6740.682550.692090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081731532815100882122GCG340037BenignWeill-Marchesani_syndrome_4...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081858779315101109677CA579916BenignHistory_of_neurodevelopmental_disorder0.406120.384990.31151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081958779515101109794CG579918BenignHistory_of_neurodevelopmental_disorder0.406120.384840.31151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082058779215101109818GA580207BenignHistory_of_neurodevelopmental_disorder0.502150.505610.456271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082158779415101109893CA580213BenignHistory_of_neurodevelopmental_disorder0.406120.384750.31171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082258779115101110265TA579973BenignHistory_of_neurodevelopmental_disorder0.40557.0.31151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082358779915101110302CG579971BenignHistory_of_neurodevelopmental_disorder0.33890.343840.254791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082458778215101113950AG579925BenignHistory_of_neurodevelopmental_disorder0.419420.388530.327481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082558779015101114418GA579990BenignHistory_of_neurodevelopmental_disorder0.399210.386740.31431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082658778515101120963TC579999BenignHistory_of_neurodevelopmental_disorder0.388050.383580.298521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082768387015101425703TC667937Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082867715715101436307CT667941Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082925676115101445900GA255126Benignnot_specified|not_provided0.147090.204560.213460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083067715915101448571TA667669Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083167205315101717680GT656277Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083243910816223706AG432860Benignnot_specified..0.997011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083340292116223735AG390135Benignnot_specified..0.933911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083440240516396264AG390297Benignnot_specified0.714130.621840.638980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083525716916774520CT255863Benignnot_specified0.421820.607970.589660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083612863116774692AG134080Benignnot_specified0.535940.603870.700880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083725716516775947GC255867Benignnot_specified0.20317.0.159740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083825716216775954CCAA255869Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083976873516817016AGCCAGGGAGTCCCTGA778218Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1084096005161252369CT101900BenignEpilepsy,_childhood_absence_6|not_specified|no...0.22353.0.43991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1084196008161254369CT38427Benignnot_specified|not_provided0.0738.0.046730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1084296011161260481TC101905BenignEpilepsy,_childhood_absence_6|not_specified|no...0.847040.860150.919931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10843585639161260636GA577430Benignnot_provided0.047880.060610.033550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10844585642161261219AG577432Benignnot_provided0.643210.643120.709670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10845585643161261222AG577433Benignnot_provided0.643530.643230.709670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10846585644161261282TC577434Benignnot_provided0.847970.859690.917731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10847585650161268013GC577440Benignnot_provided0.043250.079910.032750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10848585651161268376GA577441Benignnot_provided0.041620.097940.031750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10849585653161268494CT577443Benignnot_provided0.651010.622430.699081|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10850518260161269029TC508885BenignEpilepsy,_childhood_absence_6|not_provided0.660440.610360.691690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10851585654161269095CT577444Benignnot_provided0.038920.090780.032750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1085296016161270162GA101910BenignEpilepsy,_childhood_absence_6|not_specified|no...0.646830.662780.700680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1085396018161270349TC101912BenignEpilepsy,_childhood_absence_6|not_specified|no...0.859670.858270.913941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10854317904161495006CG341950BenignOsteopetrosis..0.661340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10855317912161495243TG333780BenignOsteopetrosis..0.918931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10856317913161495300GA340566BenignOsteopetrosis..0.469650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10857317926161495897GA333791BenignOsteopetrosis..0.587060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10858257949161503879TA255466BenignOsteopetrosis|not_specified0.50931.0.555910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10859317981161560886AG324309BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,.....0.389780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10860516182161573810AG505581BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,...0.963910.964540.984431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10861129260161574863GA134706BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,...0.188110.198520.231030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10862129259161608082AG134705BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,...0.307430.256330.347440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10863129258161614097AG134704BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,...0.422990.390870.505190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10864318223161657284CG334063BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,...0.438450.400350.514980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10865318265161842209AG334129BenignAcid-labile_subunit_deficiency0.81986.0.784150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10866318273161843672TC324568BenignAcid-labile_subunit_deficiency0.717620.699910.668730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10867671762162033941CA668649Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10868671621162033970CG668341Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10869671622162034137CT668167Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10870676125162035762TC668170Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10871676126162035784CT668660Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087249958162105335CG59120not_providedTuberous_sclerosis_syndrome..0.153360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087349957162105400CT59119BenignNeoplasm_of_brain|Hereditary_cancer-predisposi...0.128420.087110.092050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10874675047162110571CG668366Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087549143162111779TC58305Benignnot_provided..0.610620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087649695162115481CT58857BenignTuberous_sclerosis_syndrome|not_specified|not_...0.073870.071240.039340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10877677145162115819AG668375Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087865157162120402TC76088BenignTuberous_sclerosis_syndrome|not_provided..0.393371|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087965253162136624TC76185BenignTuberous_sclerosis_syndrome|not_provided..0.241210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1088049431162138218AC58593BenignTuberous_sclerosis_syndrome|Tuberous_sclerosis...0.328490.206720.256990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1088149895162138269TC59057BenignHereditary_cancer-predisposing_syndrome|Tubero...0.332460.188280.276360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1088249420162138398CT58582BenignTuberous_sclerosis_syndrome|not_specified|not_...0.201460.110180.167730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1088349976162138422CG59138BenignTuberous_sclerosis_syndrome|Tuberous_sclerosis...0.23130.120960.200880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10884256921162140010AG255507BenignPolycystic_kidney_disease,_adult_type|not_spec...0.33032.0.277960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10885256917162140454TC255511BenignPolycystic_kidney_disease,_adult_type|not_spec...0.3261.0.276360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10886256913162140680TC255514BenignPolycystic_kidney_disease,_adult_type|not_spec...0.311040.190940.2520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10887257034162152651TC255553BenignPolycystic_kidney_disease,_adult_type|not_spec...0.278430.16460.220650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10888440071162154478AG433189BenignPolycystic_kidney_disease,_adult_type..0.632591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10889257004162156021AG255582BenignPolycystic_kidney_disease,_adult_type|not_spec.....0.177720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10890256997162156850AG255589BenignPolycystic_kidney_disease,_adult_type|not_spec....0.187490.242610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10891256968162160503TG255617BenignPolycystic_kidney_disease,_adult_type|not_spec...0.28264.0.221650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10892256944162162839TC255640BenignPolycystic_kidney_disease,_adult_type|not_spec...0.041330.037380.019970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10893256942162162887AG255642BenignPolycystic_kidney_disease,_adult_type|not_spec...0.225760.110470.182910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10894256929162165630TC255655BenignPolycystic_kidney_disease,_adult_type|not_spec...0.227830.188330.226640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10895162672162331430AG175790Benignnot_specified0.869420.919210.900960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10896775366162498949GT703568Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10897318648162552650GA341030Uncertain_significanceMyoclonic_epilepsy,_familial_infantile..0.006990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10898318677162553869AT342579BenignMyoclonic_epilepsy,_familial_infantile..0.455470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10899318688162554553GA342594Uncertain_significanceMyoclonic_epilepsy,_familial_infantile..0.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10900768742163142911CG703649Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10901319086163292085CA341340Likely_benignFamilial_Mediterranean_fever..0.650960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10902319088163292304CCAGT325218Likely_benignFamilial_Mediterranean_fever..0.649960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10903319092163292398AG325223Likely_benignFamilial_Mediterranean_fever..0.694290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10904319101163292672CAAAC334887Likely_benignFamilial_Mediterranean_fever...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10905224065163292874CT225792Likely_benignFamilial_Mediterranean_fever..0.646170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10906224064163292896CT225793Likely_benignFamilial_Mediterranean_fever..0.639780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1090736505163293888CT45167BenignFamilial_Mediterranean_fever|not_specified0.42358.0.353630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10908439880163293922AT433684Benignnot_specified0.40565.0.31130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10909676934163294678GA668336Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10910667833163294931AC667523Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10911439879163296429GA433683Benignnot_specified..0.454070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10912439878163296616CT433682Benignnot_specified|not_provided0.43999.0.454070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091336503163297073AG45165Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.584190.610430.663140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10914255615163297175TC255706Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.568570.60570.650560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091536500163297181CT45162Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.566570.602670.638980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10916667831163298642GA668504Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091736515163299749GA45177Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.595660.628350.69070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091836512163304463CT45174Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.180320.25550.135980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091936511163304573GT45173Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.466970.490740.386380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1092036510163304654TC45172Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.46637.0.386580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1092136509163304762AG45171Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.476310.438180.389380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10922260710163724465GC255737Benignnot_specified|not_provided0.33169.0.392770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10923260709163726160AG255738Benignnot_specified0.92420.93030.967051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1092496224164386814TC102118BenignNephronophthisis|not_specified|not_provided0.974990.979620.991211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10925319241164388139GA341474BenignNephronophthisis..0.153551/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10926319394164847169GA341579BenignKohlschutter's_syndrome..0.395770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10927319396164847317CT325480BenignKohlschutter's_syndrome..0.397960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10928319413164852892GC335133BenignKohlschutter's_syndrome..0.388980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10929260705165075542GA255780Benignnot_specified0.717250.701670.792531|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10930260704165075633GA255781Benignnot_specified0.27640.300980.200880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10931260703165077395TGGGAGGAT255782Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10932260708165078841TC255783Benignnot_specified0.99969.0.99921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10933260707165080523CT255784Benignnot_specified0.23330.228920.18510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10934260706165083483TC255785Benignnot_specified0.68290.710190.730230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1093595935165122072GGGTCT101831BenignCongenital_disorder_of_glycosylation_type_1K|n......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1093695936165123270CT101832Benignnot_specified0.24142.0.176720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10937803210166533549CA791630BenignIdiopathic_generalized_epilepsy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10938320841168839954AG344189BenignGamma-aminobutyric_acid_transaminase_deficienc...0.514010.584130.50080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10939320843168841960TC336367BenignGamma-aminobutyric_acid_transaminase_deficienc...0.475760.570410.469450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10940321071168858580TA344196BenignGamma-aminobutyric_acid_transaminase_deficiency0.859010.898540.825881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10941321082168868776CA326555BenignGamma-aminobutyric_acid_transaminase_deficienc...0.322610.385550.317490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10942321094168875529GT342608BenignGamma-aminobutyric_acid_transaminase_deficiency..0.37381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10943321104168875799GA336390BenignGamma-aminobutyric_acid_transaminase_deficiency..0.371211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10944321107168876202CG326569BenignGamma-aminobutyric_acid_transaminase_deficiency..0.384981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10945321109168876277GC326573BenignGamma-aminobutyric_acid_transaminase_deficiency..0.606431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10946321111168876418GA342626BenignGamma-aminobutyric_acid_transaminase_deficiency..0.550321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10947321126168876880TA344235BenignGamma-aminobutyric_acid_transaminase_deficiency..0.386181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10948321134168877220TC342650BenignGamma-aminobutyric_acid_transaminase_deficiency..0.908151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10949321139168877401GA344245BenignGamma-aminobutyric_acid_transaminase_deficiency..0.606831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10950321145168877854CG342652BenignGamma-aminobutyric_acid_transaminase_deficiency..0.605431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10951495797168904877TTATG487926Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1095292802168905054TC98709BenignCongenital_disorder_of_glycosylation,_type_Ia|...0.437420.465360.381191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10953321232168941934CA326761Likely_benignCongenital_disorder_of_glycosylation..0.396171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10954321248168942473GC326771BenignCongenital_disorder_of_glycosylation..0.920931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10955321471169848471TG336832BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.75061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10956321501169850397AG336853BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.423320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10957321514169850857GC336862BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.416330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10958321515169850878TC344757BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.417330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10959321519169851122CT343130BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.367610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10960321520169851188GA343131BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.75221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10961321565169854389CG343154BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.3740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10962321583169855794GA336920BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.268170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10963681804169862556GT668744Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10964129192169916204CG134638BenignHistory_of_neurodevelopmental_disorder|Epileps...0.351090.264820.281150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10965675086169923179GA669016Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10966674884169935066TG668617Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10967681643169943432GT667736Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10968129190169943666CT134636BenignHistory_of_neurodevelopmental_disorder|Epileps...0.296520.25420.225840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10969681642169943995AG668765Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10970683415169984523CT667740Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109712580931610631945GA255451Benignnot_specified0.42335.0.419730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109724025381610995933AG390078BenignBare_lymphocyte_syndrome_2|not_specified0.983150.995860.987221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109733177171611002904GA323996BenignBare_lymphocyte_syndrome_2|not_specified0.634680.683960.663141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109743177181611002927AG323999BenignBare_lymphocyte_syndrome_2|not_specified0.919890.978720.928711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109753177251611016045CT324017Likely_benignBare_lymphocyte_syndrome_20.098050.100880.104830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109763177271611017728GC341801Likely_benignBare_lymphocyte_syndrome_2..0.071891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109773177471611018622TC341808BenignBare_lymphocyte_syndrome_2..0.691691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109786840911611650057TC668090Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109796830581611650325GA668536Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109806840771611650887CT667277Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109812596861614026007GA255455BenignXeroderma_pigmentosum|not_specified0.98461.0.946491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109823178451614043912GA333761Uncertain_significanceXeroderma_pigmentosum..0.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109833178711614045643GA324203Uncertain_significanceXeroderma_pigmentosum..0.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109846723591615813945CT667306Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109851383421615818141AC142045Benign/Likely_benignAortic_aneurysm,_familial_thoracic_4|Thoracic_...0.45898.0.410140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109863181291615818991TAT333972Uncertain_significanceLissencephaly,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109871383341615820863CT142037Benign/Likely_benignAortic_aneurysm,_familial_thoracic_4|Thoracic_...0.206790.245690.203870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109886723571615831212GA667315Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109896806741615832141CG667318Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109906709971615838940GC668285Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109911383301615839034GA142033Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0.26320.297510.253591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109926785151615839328CG668287Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109936723561615843899GA668296BenignAortic_aneurysm,_familial_thoracic_4|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109946723551615850004TC668301Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109951383271615850204AG142030Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0.4990.44370.548121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109961383711615853596CG142074Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0.473220.416390.534341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109976806571615870309AG668315Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109986806531615916861AC668329Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109996806481615932374CT667347Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110001268521616169566CT132366Uncertain_significanceFamilial_cancer_of_breast..0.56111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110011268601616177687GA132374Uncertain_significanceFamilial_cancer_of_breast..0.803711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110024333691616243973CT426779BenignPseudoxanthoma_elasticum0.056940.070130.066290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110034332801616271409GA426928BenignPseudoxanthoma_elasticum0.188160.139530.151561|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110044332471616278863GT426987BenignPseudoxanthoma_elasticum0.453060.415180.332670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110054332461616278869GC426988BenignPseudoxanthoma_elasticum0.453060.415150.332670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110064332441616281007AG426990BenignPseudoxanthoma_elasticum0.463980.426120.339460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110074333831616291858GC427023BenignPseudoxanthoma_elasticum0.67372.0.731430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110084333821616291871GC427024BenignPseudoxanthoma_elasticum0.73811.0.787940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110094332281616291971CT427028BenignPseudoxanthoma_elasticum0.306030.306720.232230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110101431171616291983AG152835Likely_benignnot_provided0.31330.33840.282750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110111431201616302586TC152838Conflicting_interpretations_of_pathogenicityPseudoxanthoma_elasticum|not_provided.0.05976.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110126694741619078630AT668335Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110136835721619079095TG668160Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110146835741619083035GA668645Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110156835751619083221AG668337Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110166835761619083549CT667359Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110176785281619085298CT656341Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110186697951619086764CCGCCT668165Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110196835821619089098GA668340Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110204025121619547747CG390286Benignnot_specified0.927580.868140.828081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110213182991620362106AG342241Benignnot_specified|Uromodulin-associated_kidney_dis...0.031060.026840.040140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110224027241621078693TG390162Benignnot_specified0.40917.0.444490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11023442411621272591GC53408Benignnot_specified0.53147.0.50260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11024442371621286927AG53404Benignnot_specified0.287510.234280.202880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11025479541621689879TA57118Benignnot_specified0.03370.062360.103040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110266827391621690559GA668216Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11027479521621730449CT57116Benignnot_specified0.64110.631970.576681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110283183431623197545CG334228BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.20359.0.196890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110293183441623197562AG324670BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.203940.23780.196890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110301651721623200761TC176148BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.269430.302280.239021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110311651731623200848TC176006BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.269590.301770.239221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110321651741623200923CT176149BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.064110.060860.044530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110331651761623221183AG176008BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.755120.810620.783750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110343183671623227362AG334266BenignPseudohypoaldosteronism_type_1_autosomal_reces.....0.339460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110353183711623227449TC334268BenignPseudohypoaldosteronism_type_1_autosomal_reces.....0.339460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110363183731623227579TC340920BenignPseudohypoaldosteronism_type_1_autosomal_reces.....0.338860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110371651671623360199TC176011BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.662310.635470.788541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110381651701623391401GA176014BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.01978.0.041330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110393185161623534098GA340995BenignCombined_oxidative_phosphorylation_deficiency..0.786941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110403185181623534249GC342493BenignCombined_oxidative_phosphorylation_deficiency..0.786941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110413185321623535156CTC324778BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110423185361623535307CTCTGTC334395BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110433185391623535680AC260348BenignCombined_oxidative_phosphorylation_deficiency0.850070.830360.802121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110446805581623536366TC667432Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110456716461623536531CT667437Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110461371861623536684TC140889Benignnot_specified|Combined_oxidative_phosphorylati...0.849620.830630.801921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110476715521623540798CT668245Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110481371851623541223GA140888Benignnot_specified|Combined_oxidative_phosphorylati...0.736820.755670.673121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110496805571623544295GA668733Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110501371831623546561GC140886Benignnot_specified|Combined_oxidative_phosphorylati...0.852490.830810.802721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110516761181623555726CT668436Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110521371911623563501CT140894Benignnot_specified|Combined_oxidative_phosphorylati...0.734340.756060.674721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110531267141623625463AT132224Likely_benignFamilial_cancer_of_breast.0.997470.996811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110546799131628489342GA668458Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110556687881628495752CT668267Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110566687861628499659AT668740Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110573187381628853996AC341082BenignCombined_oxidative_phosphorylation_deficiency..0.261580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110586675061628854769AG668291Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110593187471628855727AG341086BenignCombined_oxidative_phosphorylation_deficiency0.344620.345440.261580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110603187601628857645AG342632BenignCombined_oxidative_phosphorylation_deficiency..0.349240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110616711981628889486CA668464Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110626780781628890131CA668298Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110636780791628893532AG667497Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110646780801628893571TC668302Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110656780811628896015CT667509Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11066965451628898793TC102439BenignBrody_myopathy|not_specified|not_provided0.403650.348190.338860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110676780821628906084GC668484Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110686780831628913787TC668489Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110696780941628915217GA668502Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110706782011628915433AC667510Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11071965391628915527GA102433BenignBrody_myopathy|not_specified|not_provided0.751420.706010.818690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110723188031628944396CG341124BenignCommon_variable_immunodeficiency_3|not_specifi...0.769360.729320.830270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110733188051628944700GT324967BenignCommon_Variable_Immune_Deficiency,_Recessive0.27536.0.18710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110743188211628950574AGTA324989Uncertain_significanceCommon_Variable_Immune_Deficiency,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110758032481629814234GA791581BenignSpondyloepimetaphyseal_dysplasia_with_joint_la......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110761675441629825126TC177989Benignnot_specified0.990760.997960.991811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110777698981630021402CT703631Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110782594501630098189GTGAG255674Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110795126921630119525CA505610Benignnot_specified0.845620.882790.895171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110802600181630718873CT255677Benignnot_specified0.155840.154430.083270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110811958891630734963CA193050Benignnot_specified0.976070.993890.981231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110821600341630735038CG169197Benign/Likely_benignFloating-Harbor_syndrome|not_specified0.016160.013460.006590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110833189271630759716TC341225BenignGlycogen_phosphorylase_kinase_deficiency..0.981431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110842557821630762640CT255685Benignnot_specified0.958440.989450.967451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110853189681630914626TC341249Likely_benignDilated_Cardiomyopathy,_Dominant..0.588661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110862618731630999142AG255691Benignnot_specified0.52271.0.493411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110872618701630999462TC255696Benignnot_specified0.52440.603290.492811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110882259751631103796AG227784drug_responsewarfarin_response_-_Dosage|not_provided..0.609630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110892260261631104509CG227785drug_responsenot_specified|warfarin_response_-_Dosage..0.416330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11090373441631104878GA38302drug_responseWarfarin_response|not_specified|acenocoumarol_.....0.355830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110912259601631105353GA227786drug_responsewarfarin_response_-_Dosage|not_provided..0.093650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1109222111631107689CT17250Likely_benign,_otherWarfarin_response|not_specified|not_provided..0.355630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110932260151631110981GA227782drug_responsewarfarin_response_-_Dosage..0.525560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110941285211631121793GA133970Benignnot_specified0.302910.380310.359230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110953189791631191482AG334778BenignAmyotrophic_Lateral_Sclerosis,_Dominant0.943280.98460.93911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110962595941631193942CA255698BenignAmyotrophic_lateral_sclerosis_type_6|not_speci...0.21672.0.278950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110973190041631203529GC325136BenignAmyotrophic_Lateral_Sclerosis,_Dominant.0.422680.281750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110983190171631204235TC334828BenignAmyotrophic_Lateral_Sclerosis,_Dominant.0.999440.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110997037891646708574TAT695697Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111002603861646723598TC255745BenignMeier-Gorlin_syndrome|not_specified|Parkinson_...0.341230.426380.194091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111012571731647684686TATTAT255752Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111023193851647735030GA335120BenignGlycogen_phosphorylase_kinase_deficiency..0.996411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111032605291649670390AG255766Benignnot_specified0.210070.216530.204870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111042605381649672520AG255777Benignnot_specified0.570020.479610.578671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111053194291650733859CG341616BenignBlau_syndrome|Crohn_disease|not_specified0.37088.0.246611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111063194501650745583TG341634BenignBlau_syndrome|Crohn_disease|not_specified0.33580.330220.216051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11107978691650757276GA103761Benign/Likely_benignInflammatory_bowel_disease_1|Psoriatic_arthrit...0.069020.061120.033350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111083194821650766127AC325520BenignBlau_syndrome|Crohn_disease..0.358231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111093194921650766886GA335201BenignBlau_syndrome|Crohn_disease..0.352240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111103195861651170434CAC335255BenignTownes-Brocks_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111112588711651171175CT255786BenignTownes-Brocks_syndrome_1|not_specified0.988380.996480.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111126675791651171670CT668339Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111132588661651173559GA255790BenignTownes-Brocks_syndrome_1|not_specified0.49192.0.538740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111143196241653634295CT343259Likely_benignNephronophthisis|Joubert_syndrome|Meckel-Grube.....0.476640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111153196341653635251AC341775Likely_benignNephronophthisis|Joubert_syndrome|Meckel-Grube.....0.477040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111163196451653635933AT335300Likely_benignNephronophthisis|Joubert_syndrome|Meckel-Grube.....0.477040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111176719101653636409CT668775Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111183196481653644975GGA325647Uncertain_significanceNephronophthisis|Joubert_syndrome|Meckel-Grube......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11119956921653656135GC101589Benign/Likely_benignNephronophthisis|Joubert_syndrome|Meckel-Grube....0.225520.136981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111201262761653672355CT131808Benignnot_specified|not_provided0.40360.35750.484631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111212178241653800954TC214481risk_factorOBESITY_(BMIQ14),_SUSCEPTIBILITY_TO..0.228630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111223197501655519535GC341847BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.256770.301280.200080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111233197561655523705TC335387BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.799320.837830.799920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111243197611655527113GA343361BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.35919.0.324880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111253197661655536687AG325751BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.443210.484090.487620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111263197681655536727CT335392BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.366420.395040.303910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111273197691655536763CG335396Likely_benignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.08102.0.037140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111283197761655539614AC343362BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_.....0.298920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111293197891655690425CT325781Likely_benignOrthostatic_intolerance..0.7530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111303198031655731835GA341872Likely_benignOrthostatic_intolerance0.25808.0.233430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111313198051655731946GA335414Likely_benignOrthostatic_intolerance0.257540.303740.229430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111323198201655736656TC335430Uncertain_significanceOrthostatic_intolerance...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111333198211655736659CCA335436Likely_benignOrthostatic_intolerance...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111343198421655737656GA341888Likely_benignOrthostatic_intolerance..0.893571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111355859421656368689CT577548BenignHistory_of_neurodevelopmental_disorder|not_pro...0.397660.438360.49740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111362619811656545175TC255825BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.195450.209240.263580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111372852611656548501CT269498BenignBardet-Biedl_syndrome_2|not_specified|not_prov....0.993770.996411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111383691141656554016AG353343BenignBardet-Biedl_syndrome..0.997011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111395048861656904587CG497694BenignFamilial_hypokalemia-hypomagnesemia|not_specified0.973220.975570.990621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111402558801656917953TC255835BenignFamilial_hypokalemia-hypomagnesemia|not_specified0.474920.458970.570690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111413199171656936319CT341943Benign/Likely_benignFamilial_hypokalemia-hypomagnesemia0.034470.030570.052320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111422558911656938387CT255845BenignFamilial_hypokalemia-hypomagnesemia|not_specified0.348260.287170.339660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111433199241656947522AG325868BenignFamilial_hypokalemia-hypomagnesemia..0.591250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111443199301656947721CT341960BenignFamilial_hypokalemia-hypomagnesemia..0.540940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111453199381656947981GC343483BenignFamilial_hypokalemia-hypomagnesemia..0.591250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111463199421656948248CT325884BenignFamilial_hypokalemia-hypomagnesemia..0.56130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111473199511656948841CT325898BenignFamilial_hypokalemia-hypomagnesemia..0.539940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111483199571656949168AG325902BenignFamilial_hypokalemia-hypomagnesemia..0.56190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111493199841657007353CT343503BenignHyperalphalipoproteinemia_10.076720.053550.054710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11150175251657016092GA32564BenignHyperalphalipoproteinemia_1|High_density_lipop....0.616480.533950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111513200001657017662GA325942BenignHyperalphalipoproteinemia_1..0.155350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111523691161657017762CG353345BenignHyperalphalipoproteinemia_1..0.766171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111536835851657481670TC668794Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111546835871657494178TC668355Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111553200141657494992CA325945Likely_benignCoenzyme_Q10_deficiency,_primary..0.116411/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111563200151657495026TC325947BenignCoenzyme_Q10_deficiency,_primary..0.992611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111576798701657673122CT667748Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111586833131657689028CT669039Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111591374931657689385CG141196Benign/Likely_benignnot_specified|not_provided0.60519.0.720851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111601586401657689805AC169286Benignnot_specified|not_provided0.208830.199780.113020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111611586411657689883TC169287Benignnot_specified|not_provided0.784470.756580.816691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111621586151657691265CA169291Benignnot_specified0.36696.0.290940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111636833151657693055CT668636Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111646817811657693247GA668790Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111652598651657697532TG255850Benignnot_specified0.766390.756440.847840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111667123241657775651CT726711Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111673200271657916776TG335611Likely_benignRetinitis_Pigmentosa,_Recessive..0.085661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111683200281657916835AG342033Likely_benignRetinitis_Pigmentosa,_Recessive..0.109631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111693200461657917758AG342038Likely_benignRetinitis_Pigmentosa,_Recessive..0.089461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111703200531657918035TC335659Likely_benignRetinitis_Pigmentosa,_Recessive0.104360.0720.085461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111713200591657921752AG326000Benign/Likely_benignRetinitis_pigmentosa_45|Retinitis_Pigmentosa,_...0.367970.310640.370211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111721944921657974240GA191655Benign/Likely_benignRetinitis_pigmentosa_45|not_specified|Retiniti...0.438730.543040.400760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111733201091657996932GA335733Benign/Likely_benignRetinitis_pigmentosa_45|Retinitis_Pigmentosa,_...0.366270.430420.31411/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111743201101657996960CT342070BenignRetinitis_pigmentosa_45|Retinitis_Pigmentosa,_...0.75496.0.7521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111754025491658577315GAG390165Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111763202061668678638CCAA,CA343681BenignEEM_syndrome...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
111773202121668678746AG343691BenignEEM_syndrome..0.170930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111786771621668712217TC668527Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111793202271668712730CA342177BenignEEM_syndrome0.18991.0.139780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111803202291668713730GA326126BenignEEM_syndrome|not_provided0.64020.5940.607830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111813202301668713823CA343710BenignEEM_syndrome|not_provided0.640270.593960.607830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111823202431668721470TC342183BenignEEM_syndrome|not_provided0.636040.588110.597440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111833202501668725783GA342187BenignEEM_syndrome|not_provided0.625420.578560.574480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111843202581668732457GT342193BenignEEM_syndrome..0.81090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111851366921668771372CT140395BenignHereditary_cancer-predisposing_syndrome|Heredi...0.860330.811140.763380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111866768871668847576AG668405Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111871427701668857441TC152484BenignHereditary_cancer-predisposing_syndrome|Heredi...0.716140.654810.718651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111883202811668867991CT326168BenignHereditary_diffuse_gastric_cancer..0.103040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111893691221668869449AG353351BenignHereditary_diffuse_gastric_cancer..0.994811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111902259711669143577AG227789drug_responseanthracyclines_and_related_substances_response...0.32641.0.342250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111916761091669365123GT668529Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11192962201669373414TC102114Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.32437.0.257590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11193168091669745145GA31848drug_responseLung_cancer|Benzene_toxicity,_susceptibility_t....0.245160.288940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111943203251670287177AG335871BenignCharcot-Marie-Tooth_disease,_type_2|Charcot-Ma...0.849180.82410.881191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111956762301670299692TGCCCATCAGAAAATCCAT667573Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111968032701670531754TG791639BenignCongenital_disorder_of_glycosylation_type_2J...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11197956991670546234GA101596BenignCongenital_disorder_of_glycosylation|not_speci...0.381810.45110.470251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111983800591670548219AT377764Benignnot_specified0.057250.063520.046330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11199956971670548297GA101594BenignCongenital_disorder_of_glycosylation|Congenita...0.95560.947430.959471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112004029541670954915GT390205Benignnot_specified0.99374.0.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112014029551670972595TC390115BenignCiliary_dyskinesia,_primary,_5|not_specified.0.616420.453871|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112028080741670986425TC797374Uncertain_significancenot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112034029561671015329GT390310Benignnot_specified.0.408710.467250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112044029571671163693AG390116Benignnot_specified.0.38474.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112054029581671220755AG390175Benignnot_specified0.043090.041170.018570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112064029591671264523TA390176Benignnot_specified.0.372990.405350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112073204491672058672GT336023BenignMiller_syndrome..0.544531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112083204531672058881AG326286BenignMiller_syndrome..0.543731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112093204591672059149AG336034BenignMiller_syndrome..0.544931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112103204611672059269TC336037BenignMiller_syndrome..0.543931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112117687891672110948CG703799Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112127687911672991715AG703805Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112133204661674747024GC326302BenignSpastic_paraplegia_35..0.25041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112143204771674747451CG342319BenignSpastic_paraplegia_35..0.237820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112151290321674750396TC134478Benign/Likely_benignSpastic_paraplegia_35|not_specified0.169360.119510.116011/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112161290311674750405GA134477BenignSpastic_paraplegia_35|not_specified0.781160.77320.725241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112176801341674753079CT668415Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112181290281674808425GA134474BenignSpastic_paraplegia_35|not_specified0.32130.35870.2490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112193691271674808737CG353356BenignSpastic_paraplegia_35|not_provided..0.68511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112203205051675507094CT336068BenignMacular_corneal_dystrophy_Type_I..0.658151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112213205071675507253TA343959BenignMacular_corneal_dystrophy_Type_I..0.792731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112223205191675508173AG342351BenignMacular_corneal_dystrophy_Type_I..0.384390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112233205201675508234AG336084BenignMacular_corneal_dystrophy_Type_I..0.514380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112243205271675508720CG326345BenignMacular_corneal_dystrophy_Type_I..0.540740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112253205311675508797GA343972BenignMacular_corneal_dystrophy_Type_I..0.465860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112263205391675509312CAGC343978BenignMacular_corneal_dystrophy_Type_I...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112273205521675510212GA342363BenignMacular_corneal_dystrophy_Type_I..0.207870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112283205571675510515GC336122BenignMacular_corneal_dystrophy_Type_I..0.521771|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112293205581675510572GA326366BenignMacular_corneal_dystrophy_Type_I..0.976641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112303205591675510620GA342366BenignMacular_corneal_dystrophy_Type_I..0.531950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112313205611675510646CTC326370BenignMacular_corneal_dystrophy_Type_I...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112323205671675510973AC326376BenignMacular_corneal_dystrophy_Type_I..0.507991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112333205961675512296GGC326392BenignMacular_corneal_dystrophy_Type_I..0.556711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112343206111675513243GC342409Benign/Likely_benignMacular_corneal_dystrophy_Type_I0.03868.0.017570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112351305911675574030CT136037Benignnot_specified0.043730.174020.270170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112366693961675589407GA668419Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112371305871675590092GC136033BenignJoubert_syndrome_20|not_specified0.058090.281330.289140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112388032741677401545AG791643BenignMicrocornea,_myopic_chorioretinal_atrophy,_and......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112396703301678148830CT667608Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112402607381678149067AC255878Benignnot_specified0.23051.0.175920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112416703311678149173AC668900Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112426703331678197911TC668429Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112432607391678198192TC255879Benignnot_specified|not_provided0.743450.748210.789141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112445869441678312497CA577569Benignnot_provided0.461970.459470.472240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112452607401678420775GA255880BenignEpileptic_encephalopathy,_early_infantile,_1|n...0.45934.0.263380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112466688421678421128GC667618Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112475402401678658393TG530280Benignnot_provided..0.503990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112486708691679245465TC668476Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112496826641681348396GT668481Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112506734421681348484AG668624Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112516803121681349106TG668955Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112526803131681385525CT668634Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112536826651681387727AG668635Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112546826661681395801CT668483Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112556807401681395918AG668637Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112566374321681396287CT625349Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112576697681681397079GGA667627Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112586817021681397166TC668490Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112596826671681397804TC668494Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112606807411681398520GA668639Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112611291311681398635CT134577BenignGiant_axonal_neuropathy_1|not_specified0.229780.195440.151160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112626817151681399305GA668501Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112633206641681411282TC336177Likely_benignGiant_axonal_neuropathy_1..0.012980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112643206681681411448GA344092BenignGiant_axonal_neuropathy_1..0.62760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112653206741681411673CG336184BenignGiant_axonal_neuropathy_1..0.671131|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112663206781681411793TA342450BenignGiant_axonal_neuropathy_1..0.641770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112673206831681412168GA336191BenignGiant_axonal_neuropathy_1..0.305510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112683206881681412469CT326450Uncertain_significanceGiant_axonal_neuropathy_1..0.0021|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112694033161681819768TC390119Benignnot_specified0.667990.724770.733231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112704033171681888152AG390125Benignnot_specified0.25572.0.212060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112714033181681892708TA390128Benignnot_specified0.556960.550930.541130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112724033201681929488CT390208Benignnot_specified0.288480.41580.406550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112734033221681941319CT390314Benignnot_specified0.72252.0.774961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112744033231681954789CG390182Benignnot_specified0.46815.0.519770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112754033241681971403TC390147Benignnot_specified0.40560.448670.31390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112762576441682673047CT255899Benignnot_specified.0.995930.93871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112772576491683065664GA255902Benignnot_specified0.55346.0.534151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112782576471683817019AG255908Benignnot_specified0.814910.810780.816091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11279955011683933296TC101400BenignDeficiency_of_malonyl-CoA_decarboxylase|not_sp...0.96756.0.957071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112807688001684070514AC778222Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112812911451684075563CA275382Benignnot_specified0.56769.0.585060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112821630861684209634CG176164BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.510690.527990.531750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112832629331684211483CT255935BenignPrimary_ciliary_dyskinesia|not_specified0.491310.510630.50180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112844025961684213434AT390214Benignnot_specified0.309720.400750.320290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112853208011686546887TC336334BenignPersistent_fetal_circulation..0.850241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112863208091686547153AAT336352BenignPersistent_fetal_circulation...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112873208181686547355AG344175BenignPersistent_fetal_circulation..0.817891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112883208221686547496CT344178BenignPersistent_fetal_circulation..0.527360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112893208311686547855CTTCT,C344180BenignPersistent_fetal_circulation...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
112903799471687960560AT375545Benignnot_specified|not_provided0.437530.429880.277960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112911931771688494947TC190342BenignBrittle_cornea_syndrome_1|not_specified.0.982730.989021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112921931781688494976AC190343BenignBrittle_cornea_syndrome_1|not_specified..0.855031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112933208661688495407GC336441BenignBrittle_cornea_syndrome_1|not_specified.0.999550.991611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112943208721688495654AG336442BenignBrittle_cornea_syndrome_1|not_specified.0.944360.87481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112951931731688497031TC190338BenignBrittle_cornea_syndrome_1|not_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112962854441688497400GA269681BenignBrittle_cornea_syndrome_1|not_specified.0.960310.902561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112972854451688497446AG269682BenignBrittle_cornea_syndrome_1|not_specified0.8140.902170.818891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112982812051688498221CT265442BenignBrittle_cornea_syndrome_1|not_specified0.877250.874830.844251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112992850421688498297TG269279BenignBrittle_cornea_syndrome_1|not_specified0.839690.927770.846451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113003209431688499539CG336479BenignBrittle_cornea_syndrome_1|not_specified0.819660.864780.779551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113012885131688502482CT272750BenignBrittle_cornea_syndrome_1|not_specified.0.534510.470051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113021951251688502505AG192286BenignBrittle_cornea_syndrome_1|not_specified0.995180.998340.996211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113031951141688504868AG192275BenignBrittle_cornea_syndrome_1|not_specified0.999780.999810.99921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113043210311688505635AG326742BenignBrittle_cornea_syndrome_1|not_specified0.775660.788550.796331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113053210341688505734CT336532BenignBrittle_cornea_syndrome_1|not_specified0.987950.995740.987221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113063210471688506287GGGCCTCCTCCCTCTGACCACAGGGTCAT342833BenignBrittle_cornea_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113073210511688506358TG342834BenignBrittle_cornea_syndrome_1..0.947281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113083210561688506528GA342835BenignBrittle_cornea_syndrome_1..0.986221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113093210591688506599ATA336547BenignBrittle_cornea_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113103210641688506741AG344469BenignBrittle_cornea_syndrome_1..0.840861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113111980421688709828AG195203Benignnot_specified0.684690.689230.737420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1131222631688713236AG17302BenignCYBA_POLYMORPHISM|Very_early_onset_inflammator....0.690830.664340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113131962071688713501AG193368Benignnot_specified0.439950.482070.366010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113144400401688782676AG433792Benignnot_specified.0.889560.867811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113154400411688783449CG433793Benignnot_specified0.631410.592240.68571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113164400481688783521TC433800Benignnot_specified0.90670.896480.891971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113174400551688786063CT433807Benignnot_specified0.02760.053930.036140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113184400491688787704GC433801Benignnot_specified0.87812.0.852440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113193812681688788477AG377889Benignnot_specified.0.831650.859630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113204400501688792047AG433802Benignnot_specified0.904730.850980.87260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113214400421688792097AG433794Benignnot_specified0.904070.849150.87220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113224400581688800913CT433810Benignnot_specified.0.100170.105430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113234400391688803124TC433791Benignnot_specified0.35070.324280.430310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113244400511688803982CG433803Benignnot_specified.0.69420.757191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113254400541688804349GT433806Benignnot_specified..0.038340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113264400431688804734AG433795BenignLymphedema,_hereditary,_III|not_specified0.859330.78230.820290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113274400461688808743AG433798Benignnot_specified0.903370.866190.909351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113284400471688851310AC433799Benignnot_specified.0.33630.299321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113291286801688872145TC134129BenignMeier-Gorlin_syndrome_4|not_specified0.999540.999340.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113301286831688872511TC134132BenignMeier-Gorlin_syndrome_4|not_specified0.847650.818340.870211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113313887321689165169TC375615Uncertain_significancenot_provided.0.000650.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113322035981689167075CCCCCAGGAGGCTCCCGGGAG200301Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113331362691689167094TC139972Benignnot_specified.0.699850.62441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113341362711689167140GC139974Benignnot_specified0.91518.0.849241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113351362721689167395CT139975Benignnot_specified0.724150.707190.619011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113361362731689167404TC139976Benignnot_specified0.724690.707780.619811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113371362741689167431GC139977Benignnot_specified0.722450.71050.619811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113381362751689167443TC139978Benignnot_specified0.725450.71060.619811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113391362761689167458CA139979Benignnot_specified..0.619211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113404393641689178474TC433338BenignCombined_malonic_and_methylmalonic_aciduria.0.05429.1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113411286411689256695GA134090Likely_benignnot_specified0.15320.193860.175520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113421286461689258747AC134095Benignnot_specified0.289210.499170.453080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113431286471689259993AG134096Likely_benignnot_specified0.396010.507410.49980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113445877971689350038GA580427BenignAutism_spectrum_disorder0.697010.637850.533551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113457071611689350658CT693969Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113466701181689576663GA667657Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113476695721689579076AG668688Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113486701231689579123GA668692Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113496701241689590243GA668549Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113502589101689590667TC255958BenignSpastic_paraplegia_7|not_specified|Spastic_Par...0.436520.477150.529350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113516711361689593198CT668714Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113526701251689595723GA668716Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113532589111689597221AG255959BenignSpastic_paraplegia_7|not_specified|Spastic_Par...0.43744.0.529350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113546701261689599241CT667663Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113556699511689599352GT668551Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113566840941689603586AG668720Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113571303691689613123AG135816Benign/Likely_benignSpastic_paraplegia_7|not_specified|Spastic_Par...0.141120.150710.106430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113586701281689613373GA668563Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113596701291689613412TC669000Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113606674981689616558TC668565Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113616716941689616725CT668722Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113621303701689620328GA135817Benign/Likely_benignSpastic_paraplegia_7|not_specified|Spastic_Par...0.140990.150910.105830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113633212971689623990CCCACA326827Likely_benignSpastic_Paraplegia,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113646801121689713174CT669003Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113656801041689715648GA667705Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113666791251689716140TC668737Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113676680861689717711GA667711Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11368143111689985844GT29350BenignSkin/hair/eye_pigmentation_2,_blond_hair/fair_....0.083210.035340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113696702591690000925TC667719Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113704028911690102835AG390188Benignnot_specified0.404050.324010.264380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113714028941690109711AG390321Benignnot_specified0.82918.0.844251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137266758617455451CA669450Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137338087817465775GA378523Benignnot_specified0.334230.278440.348640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137466758517534525TG669170Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137567083717556884AG669005Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137667083617600502CT668251Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137738087717600735AG375663Benignnot_specified0.188140.186260.221050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137866758417601018CA669547Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137966939717602261GT669304Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1138067083517602469GC669307Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1138167193017613501AC669310Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1138267026817618039GA656467Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1138367187617618408CA669560Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11384768812171132706CG703962Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11385260033171265325TA256080Benignnot_specified0.284120.414150.362620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11386508101171373518TC505951Benignnot_specified0.79010.725220.711661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11387508100171373612CT505952Benignnot_specified0.936750.863230.820891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11388508157171387472CT505968Benignnot_specified0.129790.11170.066290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11389683015171388973CT669145Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11390321889171576369CT337224Likely_benignRetinitis_Pigmentosa,_Dominant0.328160.217140.273560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11391321898171578939CT343473Likely_benignRetinitis_Pigmentosa,_Dominant0.311320.212930.261580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11392321906171580929GC343496Likely_benignRetinitis_Pigmentosa,_Dominant0.328620.2170.272360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11393321915171584324AG343505Likely_benignRetinitis_Pigmentosa,_Dominant0.329460.217360.272170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11394321917171585130AG343509Likely_benignRetinitis_Pigmentosa,_Dominant0.289710.187070.25040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11395130734171630208CT136180Likely_benignnot_specified.0.260620.233230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11396130735171630395TC136181Likely_benignnot_specified0.229620.269750.267170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11397130736171630584AG136182Likely_benignnot_specified0.265670.277430.298520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11398130739171636934AG136185Likely_benignnot_specified0.236130.281120.278950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11399130740171637074AG136186Likely_benignnot_specified0.524180.516350.539540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11400130741171637302AG136187Benign/Likely_benignCerebellar_ataxia,_mental_retardation,_and_dys...0.722970.75260.762380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11401130744171639458AG136190Likely_benignnot_specified0.693790.734220.717650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11402674942171673104GA668879Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11403322000171673276CT337339BenignOsteogenesis_imperfecta,_type_VI|not_specified...0.711830.618820.62621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11404667593171674605TC668883Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11405667594171674687TC668885Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11406674943171675127CT668893BenignOsteogenesis_imperfecta,_type_VI|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11407674945171675451TC667837Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11408674946171678256GC669188Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11409674948171679805AG669190Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11410322012171680002TC343606BenignOsteogenesis_imperfecta,_type_VI|not_specified...0.770110.729240.776760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11411667540172573173AG668929Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11412159528172573652CT169359Benignnot_specified|not_provided0.887280.914850.892371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11413667794172573858CT668773Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11414674160172577091CT668778Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11415667542172579453TC669231Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11416673026172584946GA668938Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1141742175172585113CT51341BenignLissencephaly_1|not_specified|Lissencephaly/Su...0.207290.212040.138581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11418322281172586229AG345238BenignLissencephaly/Subcortical_Band_Heterotopia..0.836661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11419322300172587326GA343787Likely_benignLissencephaly/Subcortical_Band_Heterotopia..0.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11420322332172588722TAAT343814Uncertain_significanceLissencephaly/Subcortical_Band_Heterotopia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11421322681173414135TG328033BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.140581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11422322682173414160TC344101BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.434310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11423322692173414774TC337867BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.943291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11424322694173414859CT344105BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.942491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11425322696173414939AG345500BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.845451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11426322699173415096CT345504BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.942291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11427322701173415118GA337879BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.139781/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11428322709173415370GT344111BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.945091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11429322719173415646AG344115BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.139580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11430322720173415678TG345531BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.434110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11431322723173415982CG337891BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.905751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11432322728173416172AG337904BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.56490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11433322730173416271CT345539BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.920931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11434322731173416309AC328071BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.367010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11435322735173416555CA337920BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.468050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11436322741173417123CT337926BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.996011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11437322788173445901TG337972BenignPalmoplantar_keratoderma,_mutilating,_with_per...0.51469.0.579071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11438322795173447914CT345570BenignPalmoplantar_keratoderma,_mutilating,_with_per...0.586190.640450.662541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11439322796173448453GA344159Benign/Likely_benignPalmoplantar_keratoderma,_mutilating,_with_per...0.010380.009220.003190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11440322799173458072TC345577BenignPalmoplantar_keratoderma,_mutilating,_with_per...0.9980.999430.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11441322806173461157CT328144BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.267970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11442322811173461236TC328145BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.692290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11443791431173495465CT715392Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11444189125173504326AG186968BenignNephropathic_cystinosis..0.861220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11445558924173558417CG549742Benignnot_provided0.863450.95380.845251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11446683626173558698GA667876Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11447257157173561396CT256153BenignNephropathic_cystinosis|Cystinosis|not_specifi...0.834920.918280.818291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11448257152173563963CG256155BenignNephropathic_cystinosis|Cystinosis|not_specifi...0.190450.251420.228630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11449322892173565103AG345655BenignNephropathic_cystinosis|Cystinosis..0.742010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11450322899173565332CT328216Uncertain_significanceNephropathic_cystinosis|Cystinosis..0.007590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11451322913173565969TC328225BenignNephropathic_cystinosis|Cystinosis..0.638381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11452322914173566045TTC328229BenignNephropathic_cystinosis|Cystinosis..0.767571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11453322920173566232CT328241BenignNephropathic_cystinosis|Cystinosis..0.361620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11454403283173594276TGT390187Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11455768821173664477AAATT778471Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11456721195173801182GA731146Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11457226006174836381CT227792drug_responsenot_specified|aspirin_response_-_Efficacy0.123160.097960.131590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11458255467174837210AG256260Benignnot_specified.0.153480.842251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11459324134174854480CT339128BenignGlycogen_storage_disease_type_13|not_specified..0.326080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11460324136174856376AG346462BenignGlycogen_storage_disease_type_13|not_specified...0.669080.649280.56411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11461324138174856580TC339134BenignGlycogen_storage_disease_type_13|not_specified...0.45010.460610.303910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11462403467174863410AG390198Benignnot_specified0.84710.783820.702881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11463682849174904376TA669096Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11464516675174906146GCCG506467Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11465682850174907103GA669100Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11466424675174908241GA411591Conflicting_interpretations_of_pathogenicityHereditary_spastic_paraplegia|not_specified|no...0.003310.003510.00060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11467380828174924097CG378498Benignnot_specified0.067350.111720.06290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11468380827174926882AG376339Benignnot_specified0.664360.714280.675120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11469684053174936972GA656452Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11470684048174937575TC656453Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11471403240175425077TC390199Benignnot_specified0.482620.454850.417930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
114724163175485367AT19202risk_factorVitiligo-associated_multiple_autoimmune_diseas....0.374950.192091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11473324569176327212CT339690Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos.....0.047120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11474324577176327389GA339707Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos.....0.121210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11475324579176327491CT329421Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos.....0.075080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11476324587176327771TC339716Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos.....0.196490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11477324594176328174CT339722Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos.....0.615620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1147899805176330068TC105694Benign/Likely_benignLeber_congenital_amaurosis|not_specified|Retin...0.738660.724980.713660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11479166655176331803TC177472Benign/Likely_benignLeber_congenital_amaurosis|not_specified|Retin...0.605260.634590.575880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1148099789176337404GA105678Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos...0.021070.021920.006190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11481324659176355102GTG345498BenignCone-Rod_Dystrophy,_Dominant...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11482324663176355193ACA345511Uncertain_significanceCone-Rod_Dystrophy,_Dominant...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11483324671176355212CCA346833Uncertain_significanceCone-Rod_Dystrophy,_Dominant...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11484324683176355419GA339763BenignCone-Rod_Dystrophy,_Dominant..0.333070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11485324731176358017GA339793BenignCone-Rod_Dystrophy,_Dominant..0.705671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11486324732176358075AAC339795BenignCone-Rod_Dystrophy,_Dominant...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11487324737176358174AG346872BenignCone-Rod_Dystrophy,_Dominant..0.43671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11488261946176364753AG256341Benignnot_specified|Cone-Rod_Dystrophy,_Dominant|not...0.889050.868710.913941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11489667465176604708TG669067Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11490672845176606576CT668237Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11491667464176606748CT669271Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11492668854176606933AG668239Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11493670097176606976GT669068Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11494672844176606995CT669070Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11495670096176607018GA669288Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11496670095176607031CCT669076Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11497672896176610536AG669535Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11498786837177004906GA715660Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11499166637177123240TTGGGCGTGCAGGACGC177462BenignVery_long_chain_acyl-CoA_dehydrogenase_deficie...0.45172.0.467850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1150092277177127718TC98188BenignVery_long_chain_acyl-CoA_dehydrogenase_deficie...0.561750.600030.519770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11501679141177350544GA669333Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11502128752177350975TC134201Benign/Likely_benignnot_specified|Congenital_Myasthenic_Syndrome,_...0.148620.17480.18730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11503256772177358803GA256403Benignnot_specified|not_provided0.967090.990880.967051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11504679143177358861TC669339Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11505256773177359277TC256404Benignnot_specified0.145630.17560.182910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11506325109177360110TC345778BenignCongenital_Myasthenic_Syndrome,_Dominant/Reces.....0.305711|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11507325112177360323TC345779Likely_benignCongenital_Myasthenic_Syndrome,_Dominant/Reces.....0.181910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11508325511177487108AG345999Likely_benignCongenital_disorder_of_glycosylation..0.240620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11509325524177491177GT330041BenignCongenital_disorder_of_glycosylation.0.809470.681910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11510325623177572101CT340457Likely_benignLi-Fraumeni_syndrome..0.057110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11511256603177578115TC256462Benignnot_specified..0.833670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11512440348177578645CT433983Benignnot_specified..0.842850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11513803309177578711CTTTC791833Likely_benignSquamous_cell_carcinoma_of_the_head_and_neck...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11514695142177578837AG685438Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11515256604177579619GT256464Benignnot_specified0.070810.065870.077680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11516260999177606722CG256472Benignnot_specified|Dyskeratosis_Congenita,_Recessive0.39559.0.511180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11517402705177630505TC390368Benignnot_specified0.149930.129920.086260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11518402707177673928CG390242Benignnot_specified0.27749.0.358030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11519402708177680159GA390253Benignnot_specified0.248350.242340.120410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11520402709177681412CG390245Benignnot_specified0.792170.874170.761381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11521402710177700712CT390251Benignnot_specified0.520530.602730.533951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11522402712177721030GA390252Benignnot_specified0.302550.280490.171330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11523402713177722365CT390255Benignnot_specified0.649850.605870.611020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115249353177906519GT24392BenignLeber_congenital_amaurosis_1|not_specified|not....0.521140.415941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11525257554177983969GC256545BenignCongenital_ichthyosiform_erythroderma|not_spec...0.409350.375970.454471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11526325934177990915AG340784BenignCongenital_ichthyosiform_erythroderma..0.381390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11527325949177999589TG330553BenignCongenital_ichthyosiform_erythroderma..0.482030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11528325991178129160AG346455BenignDyskeratosis_Congenita,_Recessive..0.333070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11529128861178132763TC134309Benignnot_specified|Dyskeratosis_Congenita,_Recessive0.800870.750860.663540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11530128860178135061TC134308Benignnot_specified|Dyskeratosis_Congenita,_Recessive0.953010.950740.93730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11531261822178141707TC256553Benignnot_specified|Dyskeratosis_Congenita,_Recessive..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11532129893178792029AG135339Benignnot_specified0.502150.410790.443490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11533129894178792514GA135340Benignnot_specified0.502610.41030.442690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11534692209178932082CT679951Uncertain_significanceNonsyndromic_cleft_lip_with_or_without_cleft_p......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115351296781710297658AG135124Benign/Likely_benignHecht_syndrome|not_specified0.629730.509580.485421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115361296741710304261GA135120Benign/Likely_benignHecht_syndrome|not_specified0.619640.502490.473641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115371296801710318636AG135126Benign/Likely_benignHecht_syndrome|not_specified0.856680.92240.862420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115382587011710532884GA256041Benignnot_specified..0.514180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115392586981710533595CCT256045Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.585880.641320.513580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115402586941710535100CA256046Likely_benignnot_specified0.045130.035980.040540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115412586911710535349CG256048Benignnot_specified0.79842.0.723841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115422586901710535761GA256049Benignnot_specified0.581190.609510.466850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115431296631710536018GA135109Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.583810.608950.469650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115441296581710541515CT135104Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.716290.690180.586461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115451296561710542471TG135102Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.58166.0.466450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115461296531710542765AG135099Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.581960.60940.466450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115472586761710542803TC256059Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.581960.608850.466450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115481296521710542886TC135098Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.582040.608520.466250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115491296511710543385TC135097Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.069660.042910.06170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115501296501710543463TC135096Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.582040.608520.466450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115512586731710544018TC256062Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.582190.613990.466650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115521296491710544416GT135095Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.58173..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115531296481710544461GA135094Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.069740.042920.06170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115543217521710544696GAGAA,G337081Likely_benignArthrogryposis_multiplex_congenita|Freeman-She......1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
115552586711710546130TG256063Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She.....0.525961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115562586681710548992CT256066Benignnot_specified0.581580.60750.466050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115572586671710549184GA256067Benignnot_specified0.581420.607320.464260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115582586951710553046AG256072Benignnot_specified0.650930.650510.525761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115592586821710555028GA256077Benignnot_specified0.581420.607620.464060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115603217801710583714GC344879BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a.....0.477840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115613217851710584116CT344888BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115626837021710595024CT668791Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115636762571710596380GA668646Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115646837011710599304TC668648Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115654027731711511457CT390159Benignnot_specified0.345990.452160.443290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115664027761711583089TC390325Benignnot_specified0.968320.972190.947881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115674027771711648332CT390327Benignnot_specified0.735890.79380.770170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115684027781711651057AG390221Benignnot_specified0.216130.221340.224640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115694027801711737941CT390330Benignnot_specified0.309170.346860.353440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115704027821711757556CG390174Benignnot_specified0.39605.0.403550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115714027831711786951TC390235Benignnot_specified0.406040.452830.385980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115724027861711835321CT390179Benignnot_specified0.160620.180150.163740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115734027881711865462GA390186Benignnot_specified0.160930.184080.160140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115746746881712896553CT668792Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115753799671712920260AG378068Benignnot_specified0.272340.27160.208470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115766834981712921645TC668830Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115776834971712921672GA668832Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115783218031713972811GA343328BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a.....0.995611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115791370051713972955CT140708Benign/Likely_benignLeigh_syndrome|Hepatic_failure,_early-onset,_a...0.048290.059460.033150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115806694771713973131TC667774Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115816725141713979767AAT668839Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115821370061713980058AT140709Benign/Likely_benignLeigh_syndrome|Hepatic_failure,_early-onset,_a...0.04990.076460.06151|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115831370091713980350GA140712BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a...0.490390.494470.463860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115841370031714005439GA140706BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a...0.555510.522310.491811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115856835921714062974GA669120Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115861369951714095309AG140698BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a...0.553440.584970.548321|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115873218221714110827GA327302Likely_benignLeigh_syndrome|Hepatic_failure,_early-onset,_a.....0.201681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115883218391714111608CT343366Likely_benignLeigh_syndrome|Hepatic_failure,_early-onset,_a.....0.201881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115893218531715133705CAGC343376Likely_benignHereditary_liability_to_pressure_palsies|Charc......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115903218591715134175TG343380BenignHereditary_liability_to_pressure_palsies|Charc....0.535080.595451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115916770661715142588GA667803Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115926334871715162389TC621914BenignCharcot-Marie-Tooth_disease,_type_I0.605110.550190.610421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115936675051715906912GA668869Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115943219691715932071CCTT343401Likely_benignMitochondrial_complex_III_deficiency,_nuclear_....0.493030.494411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115953219841715932627TC337188Likely_benignMitochondrial_complex_III_deficiency,_nuclear_....0.446220.367411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115963219901716229232AG343431BenignColoboma,_Congenital_Heart_Disease,_Ichthyosif...0.394280.413990.267371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11597368791716855878CT45540BenignCommon_variable_immunodeficiency_2|not_specifi...0.809630.811190.899561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115983220331717115566AG343533BenignSpontaneous_pneumothorax|Multiple_fibrofollicu.....0.713061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115993220481717116412AG337305BenignSpontaneous_pneumothorax|Multiple_fibrofollicu.....0.710661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11600964681717122327GA102362BenignSpontaneous_pneumothorax|Multiple_fibrofollicu...0.44910.502340.5031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11601964861717127471GA102380BenignSpontaneous_pneumothorax|Multiple_fibrofollicu...0.373810.484080.405151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116023220821717140297GA343588BenignSpontaneous_pneumothorax|Multiple_fibrofollicu.....0.428321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116033220871717140485CG337331BenignSpontaneous_pneumothorax|Multiple_fibrofollicu.....0.743211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11604961831717696531GC102077BenignSmith-Magenis_syndrome|History_of_neurodevelop...0.412180.488180.666930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11605961941717696755CA102088BenignSmith-Magenis_syndrome|History_of_neurodevelop...0.337150.441670.56370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116061675581717698099GA177998Uncertain_significancenot_provided0.000230.00019.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11607961791717698254GA102073BenignSmith-Magenis_syndrome|History_of_neurodevelop...0.601110.506910.399760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11608961951717707105TC102089BenignSmith-Magenis_syndrome|History_of_neurodevelop...0.43580.421410.240620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116096696911717922280GA669203Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116106696881717924868AG668760Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116113221021718021882TC345134Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.607430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116123221061718022039AC343645Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.607030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116131953151718023897GA192476Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|...0.335430.528880.553510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116142267781718024013AG230693Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|...0.303640.525830.56590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116152267791718024266TG230696Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|.....0.496010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116166825321718030240TC668764Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116176825331718030524GA668766Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11618457511718046058AC54916Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|...0.769010.713070.684310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11619457531718046898TC54918Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|...0.803410.739480.718050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11620457581718052867TC54923Benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.999520.989470.989821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11621457611718055229GA54926Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.599020.563590.390780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116222267891718057215CG230743Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.25743.0.210260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11623457741718064730CT54939Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.204780.176720.157550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11624457751718065888TC54940Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.203850.18540.156950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11625457441718077175TC54909Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|...0.794920.73120.721450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116263221911718082796CG327624Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.156750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116273221961718083104GA327635Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.721050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116282606751719247075GA256099BenignMeckel_syndrome,_type_9|not_specified0.599570.59940.31051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116296747191719265797CT667861Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116303222191719578873AT345179BenignSjögren-Larsson_syndrome|not_provided0.550670.615410.678510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116313222371719580494AG345207BenignSjögren-Larsson_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116323222401719580760TACT327687BenignSjögren-Larsson_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1163354041719812541TC20443risk_factorCardiac_conduction_defect,_susceptibility_to.0.373650.393970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116347688411721201719TC778368Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116357688421721202191CA704020Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116367688431721202237GC704021Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116377688491721205460CT704027Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116387688501721206556CT778456Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116392188441721207813TG215533Uncertain_significancenot_specified.0.28464.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116407688521721207844CT704029Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116417688531721208413CT704030Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116427688541721208449GT778324Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116437688551721215446CT778240Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116447688561721215483CT704032Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116457688571721215537CA704034Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116467688581721215552CT704035Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116477688591721215557GA704036Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116487688601721216846GC704037Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116497688611721217513GA704038Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116503223351726721791CA337587BenignCongenital_defect_of_folate_absorption..0.617411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116513223361726721895GA327762BenignCongenital_defect_of_folate_absorption..0.617411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116523223411726722039GGA327778BenignCongenital_defect_of_folate_absorption...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116533223461726722645GA345316BenignCongenital_defect_of_folate_absorption..0.616611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116543223481726722728CT345318BenignCongenital_defect_of_folate_absorption..0.612021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116553223611726723613GT327801BenignCongenital_defect_of_folate_absorption..0.533951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116563223621726723666AC345325BenignCongenital_defect_of_folate_absorption..0.754991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116573223841726725265GA343853BenignCongenital_defect_of_folate_absorption..0.605231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116583223931726725744TC345336BenignCongenital_defect_of_folate_absorption..0.548521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116593793901726851501GA374904Benignnot_specified0.630250.714920.650760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116603794091726856261AG375818Benignnot_specified0.420650.385970.430710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116613224361726864302GC337689BenignT-cell_immunodeficiency,_congenital_alopecia_a...0.378670.322890.392770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116623224941727069393CT345410BenignNephronophthisis..0.390780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116632596721727580756CT256112Benignnot_specified|not_provided0.220280.217060.290740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116643225091728523726GT327926Likely_benignBehavior_disorder..0.581071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116653225181728524804AC327928Likely_benignBehavior_disorder..0.483431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116663225211728525011AC343987Likely_benignBehavior_disorder..0.485221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116673225461728549898GT327950Likely_benignBehavior_disorder..0.796331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116685617561729482701CT552872Benignnot_provided..0.652560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116695614631729482878GA552873Benignnot_provided..0.509980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116702572831729486152GA256114Benignnot_specified|not_provided0.574140.6230.509780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116715614641729496819CT552882Benignnot_provided..0.488420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116721838251729508775GA184518Benign/Likely_benignHereditary_cancer-predisposing_syndrome|Neurof...0.57440.62280.511780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116735614651729509791CT552890Benignnot_provided..0.478040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116745614661729509801GT552891Benignnot_provided..0.493610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116755617571729530350AC552900Benignnot_provided..0.517570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116765617581729530362CT552901Benignnot_provided..0.510580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116775617591729541061TC552902Benignnot_provided..0.474440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116785614681729541339AT552904Benignnot_provided..0.610620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116792572761729541437TC256117Benignnot_specified|not_provided0.56385.0.474040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116802572771729545987AAT256119Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116812572781729546175TC256120Benignnot_specified|not_provided0.535980.633970.473440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116825617601729550141GA552913Benignnot_provided..0.464060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116831838261729553485GA184580Benign/Likely_benignHereditary_cancer-predisposing_syndrome|Neurof...0.416350.382730.496810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116845614691729558082TC552936Benignnot_provided..0.546130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116855614711729559588GC552941Benignnot_provided..0.526160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116862572851729559932CA256126Benignnot_specified0.390360.367630.458070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116875617611729577248GA552948Benignnot_provided..0.511580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116884032301729646032GA390336Benignnot_specified0.66608.0.591850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116895617621729652531AG552959Benignnot_provided..0.380390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116902572931729653293TC256134Benignnot_specified|not_provided0.676690.600050.605830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116912572941729654876TA256135Benignnot_specified|not_provided0.516220.536380.431910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116925614721729654974GA552970Benignnot_provided..0.431710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116935617661729661340GT552975Benignnot_provided..0.380390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116945614731729663172AC552981Benignnot_provided..0.886781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116952573001729670190CG256140Benignnot_specified|not_provided0.883120.906850.87381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116965617631729675878TG552992Benignnot_provided..0.415140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116975614751729675971TA552993Benignnot_provided..0.424520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116982573031729679246GA256143Benignnot_specified|not_provided0.51338.0.430910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116995614761729684553CT553001Benignnot_provided..0.402360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117005617641729685150AG553002Benignnot_provided..0.245810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117013225971729703374GA345469Likely_benignNeurofibromatosis,_type_1|Café-au-lait_macules.....0.530550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117023225991729703438CG327986BenignNeurofibromatosis,_type_1|Café-au-lait_macules.....0.558710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117033226031729704002TC337817Likely_benignNeurofibromatosis,_type_1|Café-au-lait_macules.....0.612620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117048056061732957114GA793662Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117058056071732962004CT793663Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117068056081732962050CT793664Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117076796761733433820AG668941Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117083226351733901917TTAAGT344170BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117093226631733905468AG345589BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.87740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117105593401735470031TG550067Benignnot_provided0.037910.01370.044130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117113229401736047275CT345691BenignFamilial_hypoplastic,_glomerulocystic_kidney.0.852390.780350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11712368431736047417AG45504BenignFamilial_hypoplastic,_glomerulocystic_kidney0.67108.0.654950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117136743601736059246AC668961Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117146768781736059377AG667882Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117156768761736059424AAG668964Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117166726931736060736CG668785Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117176769041736065302TTCC667884Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117183229941736485753GC345722BenignCongenital_Stationary_Night_Blindness,_Recessive0.29812.0.304110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117191984411736491083CT195602Benign/Likely_benignnot_specified|Congenital_Stationary_Night_Blin...0.040870.065250.030550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117203230281736493586AT338237Uncertain_significanceCongenital_Stationary_Night_Blindness,_Recessive0.013010.010020.003191|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117211962941736493598AG193455Benignnot_specified|Congenital_Stationary_Night_Blin...0.229850.1580.258590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117226720431737821435GT669266Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11723447091737822311AC53876Benign/Likely_benignHypertrophic_cardiomyopathy|not_specified|Card...0.618340.67060.549721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117246799841737830900AG656430Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117251355191737855834CA139258not_providednot_specified.0.176170.065890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117261340821737884037CG137821not_providednot_specified0.513530.606980.452081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117272590201738240216CT256161Benignnot_specified0.045360.038470.029750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11728661711738978462CT77068not_providednot_provided0.185170.19740.132790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117294030231739253835CT390196Benignnot_specified..0.636380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117303230701739657337CA344363BenignWhite_sponge_nevus_of_cannon..0.68970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117313230841739659183GA338280BenignWhite_sponge_nevus_of_cannon0.807550.906030.799921|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117323230931739659529TC328372BenignWhite_sponge_nevus_of_cannon0.833460.913940.821091|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117333230961739659913GA344370BenignWhite_sponge_nevus_of_cannon0.695140.850890.705270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117343231011739661366GC345815BenignWhite_sponge_nevus_of_cannon0.07550.053450.074280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11735665401739681475AG77437not_providednot_provided0.62010.685720.731831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11736665441739684410GA77441not_providednot_provided0.586040.6890.684111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117373231201739723990TA328390Likely_benignLocalized_epidermolytic_hyperkeratosis0.498920.624140.647361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117383231331739726276CA344409Likely_benignLocalized_epidermolytic_hyperkeratosis0.516990.628890.663141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11739661511739727816TG77048Likely_benignLocalized_epidermolytic_hyperkeratosis|not_pro...0.50162..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117403231411739728050GA338340Likely_benignLocalized_epidermolytic_hyperkeratosis0.640170.729230.780951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117417119951739739558CT727165Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11742663461739742718AG77243Benignnot_specified|not_provided.0.637520.680511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117432563641739743081GA256164Benignnot_specified0.550260.671510.680511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117447717671739881327TC704140Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117453231591739911771AG344426Likely_benignArrhythmogenic_right_ventricular_cardiomyopath.....0.632191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11746213041739912145TA34156Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopath...0.696990.659240.587261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117476721531739912259AAC668979Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117486721521739912581AG667894Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117492614751739913645TC256165Benignnot_specified|not_provided0.793560.710.717251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117502614741739914070GT256166Benignnot_specified|not_provided0.734660.67840.638981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117516688411739920621TC669272Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117526742891739920655CT669278Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117532585931739923614AG256168Benignnot_specified0.834310.763790.744211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117546835461739924931GA667899Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11755458511739925713CT55016Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopath...0.042210.049740.023960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11756458451739925925AG55010Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopath...0.79556.0.715660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117576733201739928180GA668831Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117586742881739928375CT668990Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117595161211739942819TGCT505900Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117603231751739942919TC328421Likely_benignArrhythmogenic_right_ventricular_cardiomyopath.....0.655351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117615162271739969549CT506811Benignnot_specified0.105570.077990.065890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117626827011739973065AG669283Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117636827031739975164CT668833Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117646827151739977734AG668842Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117656748791739977862CT668998Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117663231971739979062TA338398BenignOsteogenesis_Imperfecta,_Recessive..0.787140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117673231991739979081CCGG345864Uncertain_significanceOsteogenesis_Imperfecta,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117683232031739979267GCTCG345866BenignOsteogenesis_Imperfecta,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117693232181740466092GA328440BenignHyper-IgE_syndrome..0.449881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117703232581740554956AG345919BenignFamilial_partial_lipodystrophy..0.859231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117713232591740555001GC344514BenignFamilial_partial_lipodystrophy..0.859821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117723232601740555114AC344515BenignFamilial_partial_lipodystrophy..0.853241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117733232671740555890TC344517BenignFamilial_partial_lipodystrophy..0.859821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117743232681740555939AT328498BenignFamilial_partial_lipodystrophy..0.532351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117753232711740556247GA338443BenignFamilial_partial_lipodystrophy..0.859821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117763232751740556515TC344522BenignFamilial_partial_lipodystrophy..0.860021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11777926941740689455TC98601BenignSanfilippo_syndrome|Mucopolysaccharidosis,_MPS...0.994770.99470.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117781950511740689613GC192213Benignnot_specified0.74542.0.720051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117796826471740690118GC669311Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11780926971740693136CG98604Benignnot_specified|not_provided0.00077.0.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117816826481740693344CT667969Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11782926931740696233CG98600BenignSanfilippo_syndrome|Mucopolysaccharidosis,_MPS...0.84884.0.859231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117833804411740717672CG375926BenignNeurodegeneration_with_brain_iron_accumulation...0.04798.0.024960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117842553501741063466TC256175BenignGlycogen_storage_disease,_type_I|not_specified...0.754440.712370.638381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117853233831741064737CA344623BenignGlycogen_storage_disease,_type_I..0.726641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117863233891741064987TTTTTAGAAT344627BenignGlycogen_storage_disease,_type_I...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117873233951741065531AT338554BenignGlycogen_storage_disease,_type_I..0.607031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117883233961741065538TA344640BenignGlycogen_storage_disease,_type_I..0.651361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117894033531741121209GGCG,GG390210Benignnot_specified...1|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
117902092211741192016CCAT206179BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117912092261741193910AT206184BenignBreast-ovarian_cancer,_familial_1..0.537740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117922092271741194885TC206185BenignBreast-ovarian_cancer,_familial_1..0.491410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117932092281741195025TA206186BenignBreast-ovarian_cancer,_familial_1..0.342250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117942092301741195711GC206188BenignBreast-ovarian_cancer,_familial_1..0.342450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117952092311741195773AG206189BenignBreast-ovarian_cancer,_familial_1..0.342250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117961327771741196408GA136525BenignHereditary_breast_and_ovarian_cancer_syndrome|....0.444850.342250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117972092341741197274CA206192BenignHereditary_breast_and_ovarian_cancer_syndrome|....0.446470.324480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117982092381741198621AG206196BenignBreast-ovarian_cancer,_familial_1..0.342450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117992092431741199913TC206201BenignBreast-ovarian_cancer,_familial_1..0.533950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118002092441741200109TC206202BenignBreast-ovarian_cancer,_familial_1..0.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118012092471741200537TC206205BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118024911531741201653GA485074Likely_benignHereditary_cancer-predisposing_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118032092521741201702CT206210BenignHereditary_cancer-predisposing_syndrome|Breast.....0.325080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118042092561741202688GA206214BenignBreast-ovarian_cancer,_familial_1..0.537740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118052092591741203325TA206217BenignBreast-ovarian_cancer,_familial_1..0.342850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118062092601741203591TC206218BenignBreast-ovarian_cancer,_familial_1..0.342850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118072092661741204377AG206224BenignBreast-ovarian_cancer,_familial_1..0.342850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118082092671741204390TC206225BenignBreast-ovarian_cancer,_familial_1..0.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118092092771741205772GA206235BenignBreast-ovarian_cancer,_familial_1..0.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118102092781741205941AG206236BenignBreast-ovarian_cancer,_familial_1..0.490220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118112092791741206056TC206237BenignBreast-ovarian_cancer,_familial_1..0.342850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118122092911741209578TC206249BenignBreast-ovarian_cancer,_familial_1..0.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118132092961741210396AC206254BenignBreast-ovarian_cancer,_familial_1..0.459270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118142093011741211653AG206259BenignBreast-ovarian_cancer,_familial_1..0.324880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118152093031741212169CT206261BenignBreast-ovarian_cancer,_familial_1..0.324880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118162093051741212338AC206263BenignBreast-ovarian_cancer,_familial_1..0.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118172093061741212547CT206264BenignBreast-ovarian_cancer,_familial_1..0.342450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118182093081741212805CT206266BenignBreast-ovarian_cancer,_familial_1..0.489620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118192093131741213626GT206271BenignBreast-ovarian_cancer,_familial_1..0.324280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118202093141741213660TC206272BenignBreast-ovarian_cancer,_familial_1..0.342050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118212093171741213893CT206275BenignBreast-ovarian_cancer,_familial_1..0.324280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118222093181741213996CT206276BenignBreast-ovarian_cancer,_familial_1..0.324280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118232093201741214209CAAC206278BenignBreast-ovarian_cancer,_familial_1..0.326480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11824554281741215825CT70095BenignFamilial_cancer_of_breast|Hereditary_cancer-pr.....0.342450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118252093221741216205GT206280BenignBreast-ovarian_cancer,_familial_1..0.290940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118262093271741216933TC206285BenignBreast-ovarian_cancer,_familial_1..0.339660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118272093351741217874CT206293BenignBreast-ovarian_cancer,_familial_1..0.335860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118282093361741218333GA206294BenignBreast-ovarian_cancer,_familial_1..0.353630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118292093401741218572TC206298BenignBreast-ovarian_cancer,_familial_1..0.335860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118301271271741219341GT132630BenignFamilial_cancer_of_breast|Breast-ovarian_cance.....0.25280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118311271261741219560CT132629BenignFamilial_cancer_of_breast|Breast-ovarian_cance.....0.306910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118321257461741219780TC131284BenignHereditary_cancer-predisposing_syndrome|Breast.....0.354630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118331257491741219804TC131287BenignBreast-ovarian_cancer,_familial_1|not_specified..0.354630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118342093501741220223AG206308BenignBreast-ovarian_cancer,_familial_1..0.355030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118352093581741222462AG206316BenignBreast-ovarian_cancer,_familial_1..0.355830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118362093591741222723TC206317BenignBreast-ovarian_cancer,_familial_1..0.337460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11837418271741223094TC50266BenignBreast_carcinoma|Hereditary_breast_and_ovarian...0.29817.0.355830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118382647951741223538GGAATGTTCACTGTAACAATGCTTGT259558BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118392093631741224833GC206321BenignBreast-ovarian_cancer,_familial_1..0.336460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118402093711741225839TC206329BenignBreast-ovarian_cancer,_familial_1..0.354830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118412093741741226601GC206332BenignBreast-ovarian_cancer,_familial_1|not_specified..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118422093751741226675AT206333BenignBreast-ovarian_cancer,_familial_1|not_specified..0.50240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118432093761741226736GGGGTTG206334BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118442093781741227083CCGGAA206336BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118452093821741229386TC206340BenignBreast-ovarian_cancer,_familial_1..0.353830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118462648441741229773TC259564BenignBreast-ovarian_cancer,_familial_1..0.353631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118472093841741229777GGT206342BenignBreast-ovarian_cancer,_familial_1...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118482093851741229812AG206343BenignBreast-ovarian_cancer,_familial_1..0.50260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118492093861741229857GA206344BenignBreast-ovarian_cancer,_familial_1..0.548920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118502093871741229908TA206345BenignBreast-ovarian_cancer,_familial_1..0.548120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118512648271741230105CTC259566BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118522093891741230228GA206347BenignBreast-ovarian_cancer,_familial_1..0.334860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118532093901741230336AG206348BenignBreast-ovarian_cancer,_familial_1..0.334860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118542093911741230376AG206349BenignBreast-ovarian_cancer,_familial_1..0.334860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118552093921741230524TG206350BenignBreast-ovarian_cancer,_familial_1..0.2530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118562093931741230537AT206351BenignBreast-ovarian_cancer,_familial_1..0.50240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118572093961741230990AG206354BenignBreast-ovarian_cancer,_familial_1..0.5030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118582093981741231221AC206356BenignBreast-ovarian_cancer,_familial_1..0.335460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118592093991741231516CT206357BenignBreast-ovarian_cancer,_familial_1..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118602094011741231902GA206359BenignBreast-ovarian_cancer,_familial_1..0.334860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118612099291741232344GC206361BenignBreast-ovarian_cancer,_familial_1..0.980231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118622094041741232698CT206363BenignBreast-ovarian_cancer,_familial_1..0.143970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118631257031741234470AG131241BenignHereditary_breast_and_ovarian_cancer_syndrome|...0.279560.34310.336260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118642094131741235799GA206372BenignBreast-ovarian_cancer,_familial_1..0.585460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118652094201741237953GA206379BenignBreast-ovarian_cancer,_familial_1..0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118662094241741239472GA206383BenignBreast-ovarian_cancer,_familial_1..0.338060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118672094251741239491TC206384BenignBreast-ovarian_cancer,_familial_1..0.353630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118682094261741239628AG206385BenignBreast-ovarian_cancer,_familial_1..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118692648471741239915ATA259575BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118702094271741240277TC206386BenignBreast-ovarian_cancer,_familial_1..0.170330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118712094321741241390CA206391BenignBreast-ovarian_cancer,_familial_1..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118722094331741241503TC206392BenignBreast-ovarian_cancer,_familial_1..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118732094351741241568TTC206394BenignBreast-ovarian_cancer,_familial_1..0.319690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118742094361741242075AAAGA206395BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118752094391741242285TG206398BenignBreast-ovarian_cancer,_familial_1..0.352640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118761256741741243190TG131212BenignFamilial_cancer_of_breast|Breast-ovarian_cance.....0.50240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11877418181741244000TC50257BenignBreast_carcinoma|Hereditary_breast_and_ovarian...0.295250.349010.352640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11878418151741244435TC50254BenignBreast_carcinoma|Hereditary_breast_and_ovarian...0.279030.342870.335660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11879418121741244936GA50251BenignBreast_carcinoma|Hereditary_breast_and_ovarian...0.493160.410050.543930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118801255541741245237AG131092BenignHereditary_breast_and_ovarian_cancer_syndrome|...0.277640.341960.335260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118811255361741245466GA131074BenignHereditary_breast_and_ovarian_cancer_syndrome|...0.295680.348270.336460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118821271251741247122AACCT132628BenignFamilial_cancer_of_breast|Breast-ovarian_cance......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118832094471741247604AC206406BenignBreast-ovarian_cancer,_familial_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118842094491741248164CT206408BenignBreast-ovarian_cancer,_familial_1..0.335060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118852094501741248484GC206409BenignBreast-ovarian_cancer,_familial_1..0.334860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118862094511741249094AG206410BenignBreast-ovarian_cancer,_familial_1..0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118871258891741249363TAT131427BenignHereditary_cancer-predisposing_syndrome|Breast......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118882094581741250678CCT206417BenignBreast-ovarian_cancer,_familial_1..0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118892094601741250923TC206419BenignBreast-ovarian_cancer,_familial_1..0.548120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118902094631741251495CG206422BenignBreast-ovarian_cancer,_familial_1..0.335860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118911258791741251646TA131417BenignBreast-ovarian_cancer,_familial_1..0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118922094781741254174AG206437BenignBreast-ovarian_cancer,_familial_1..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118932647781741254405CT259589BenignBreast-ovarian_cancer,_familial_1..0.353440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118942094791741254486TG206438BenignBreast-ovarian_cancer,_familial_1..0.548120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118952648451741254965CCT259592BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118962094831741255102AG206442BenignBreast-ovarian_cancer,_familial_1..0.335260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118972094841741255111AT206443BenignBreast-ovarian_cancer,_familial_1..0.353240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118982257051741256089AAAAAAAAAGAAAAGA227569BenignBreast-ovarian_cancer,_familial_1|not_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118991256141741257134TC131152BenignBreast-ovarian_cancer,_familial_1|not_specified..0.548520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119002094891741257458AC206448BenignBreast-ovarian_cancer,_familial_1..0.335860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119012094911741258043CT206450BenignBreast-ovarian_cancer,_familial_1..0.353040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119022094941741259049CT206453BenignBreast-ovarian_cancer,_familial_1..0.353040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119032094991741260808AG206458BenignBreast-ovarian_cancer,_familial_1..0.353040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119042648131741261058TTCTATCTATCTACCTAC259598BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119052095031741261233CT206462BenignBreast-ovarian_cancer,_familial_1..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119062095121741263044AG206471BenignBreast-ovarian_cancer,_familial_1..0.352240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119072095161741263566TC206475BenignBreast-ovarian_cancer,_familial_1..0.357030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119082095191741264146GA206478BenignBreast-ovarian_cancer,_familial_1..0.334470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119092095211741264364AG206480BenignBreast-ovarian_cancer,_familial_1..0.334470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119102095241741265776AG206483BenignBreast-ovarian_cancer,_familial_1..0.353040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119112095311741267050GA206490BenignBreast-ovarian_cancer,_familial_1..0.354230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119122095371741268206AC206496BenignBreast-ovarian_cancer,_familial_1..0.353040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119132648081741268208CCT259612BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119142095451741270229TG206504BenignBreast-ovarian_cancer,_familial_1..0.353040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119152095471741270277CT206506BenignBreast-ovarian_cancer,_familial_1..0.335460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119162095511741270463GA206510BenignBreast-ovarian_cancer,_familial_1..0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119172095521741270666CA206511BenignBreast-ovarian_cancer,_familial_1..0.335060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119182095591741273095GA206518BenignBreast-ovarian_cancer,_familial_1..0.353040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119192095611741273348TC206520BenignBreast-ovarian_cancer,_familial_1..0.544530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119202095621741273379GC206521BenignBreast-ovarian_cancer,_familial_1..0.335260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119212095641741273537AC206523BenignBreast-ovarian_cancer,_familial_1..0.353040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119222095651741274778GA206524BenignBreast-ovarian_cancer,_familial_1..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119232095681741274906GA206526BenignBreast-ovarian_cancer,_familial_1..0.542730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119242095691741275081GGA206528BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119252095701741275151GC206529BenignBreast-ovarian_cancer,_familial_1..0.335060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119262095711741275645AG206530BenignBreast-ovarian_cancer,_familial_1..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119271254681741276247AG131006BenignBreast-ovarian_cancer,_familial_1|not_specified..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119282095741741276348TC206533BenignBreast-ovarian_cancer,_familial_1..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119291891231741277187GC186980BenignBreast-ovarian_cancer,_familial_1|not_specified.0.480530.545130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119302095821741278116TC206541BenignBreast-ovarian_cancer,_familial_1..0.503190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119312095831741278377GA206542BenignBreast-ovarian_cancer,_familial_1..0.354030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119322095871741278916AG206546BenignBreast-ovarian_cancer,_familial_1..0.503190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119332095891741279298AG206548BenignBreast-ovarian_cancer,_familial_1..0.354230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119342095921741279561GC206551BenignBreast-ovarian_cancer,_familial_1..0.549320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119352095931741279770AG206552BenignBreast-ovarian_cancer,_familial_1..0.357830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119362095941741279837CA206553BenignBreast-ovarian_cancer,_familial_1..0.335860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119372095951741279882AG206554BenignBreast-ovarian_cancer,_familial_1..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119383234301741831443GGC338589BenignSclerosing_Bone_Dysplasias..0.51/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119397688901742030743GC704166Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119402626871742084097CG256179BenignHyperammonemia,_type_III|not_specified0.26250.319360.18850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119416806771742084377GA669024Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119422626881742085150TC256180BenignHyperammonemia,_type_III|not_specified|not_pro...0.92270.943220.960261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119436806761742085352GC668862Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119442626861742085972CT256181BenignHyperammonemia,_type_III|not_specified|not_pro...0.572580.565970.475640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119453234521742086180CT344676BenignHyperammonemia,_type_III..0.894771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119463234591742148205CT344691BenignSevere_congenital_neutropenia.0.566960.323080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119472623661742152103GA256183BenignSevere_congenital_neutropenia|not_specified0.085350.176770.269970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119483234811742326258CT344706Likely_benignHemolytic_anemia|Distal_Renal_Tubular_Acidosis.....0.536340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119493234981742327493GT344720Likely_benignHemolytic_anemia|Distal_Renal_Tubular_Acidosis.....0.446490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119508034261742427544GGAGTC791780BenignFrontotemporal_dementia,_ubiquitin-positive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119515589171742427732GA549747Benignnot_provided0.266880.282690.351440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119521289731742953409AG134420BenignGrowth_and_mental_retardation,_mandibulofacial...0.219510.174270.170530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119531289721742961009CT134419BenignGrowth_and_mental_retardation,_mandibulofacial...0.643090.569250.56050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119543691461742977073TG353375Likely_benignPrimary_ciliary_dyskinesia..0.276960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11955665081742989088CT77405BenignAlexander_Disease|not_provided0.156080.11630.140780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11956664261742993118GT77323not_providednot_provided..0.408350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11957981971744060859AG104089BenignFrontotemporal_dementia|not_specified|not_prov...0.041850.041270.027760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11958982111744074018GA104103Benign/Likely_benignFrontotemporal_dementia|not_specified|MAPT-Rel...0.043060.035950.032950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119593236871744103445TAGT328833BenignSyndromic_intellectual_disability|MAPT-Related.....0.202480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119603237271744105395AG344915BenignSyndromic_intellectual_disability|MAPT-Related.....0.614020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119613237641744109474GA346272BenignKoolen-de_Vries_syndrome|Syndromic_intellectua...0.346380.37750.31290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119626820291744116843CA669322Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119638034311744144993CG791785BenignKoolen-de_Vries_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119643692151744270181GA353444BenignSyndromic_intellectual_disability..0.318690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119651374871745000529GC141190BenignProgressive_myoclonic_epilepsy|not_specified0.300230.39610.37321|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119661932751745000547GC190439BenignProgressive_myoclonic_epilepsy|Epilepsy,_progr...0.95096.0.953671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119676688381745007207CG668034Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119686832781745007213AG668035Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119696688391745012087AG668880Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119706813571745012248TG669375Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119713238281745016412GGTGGCTTTGT346313Likely_benignProgressive_myoclonic_epilepsy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119723238301745016427TC338937BenignProgressive_myoclonic_epilepsy..0.93631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119733238371745017241GA338951BenignProgressive_myoclonic_epilepsy..0.3750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119743238461745017859AG328952BenignProgressive_myoclonic_epilepsy0.42072.0.411340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119753238551745018418CT346341Likely_benignProgressive_myoclonic_epilepsy..0.074680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11976135581745360730TC28597Benign/Likely_benignPL(A1)/(A2)_ALLOANTIGEN_POLYMORPHISM|Myocardia....0.123540.088861|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119772555411745364540TC256225BenignGlanzmann_thrombasthenia|not_specified0.098190.102860.143970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119782555351745368337AC256226BenignGlanzmann_thrombasthenia|not_specified|not_pro...0.38505.0.431111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119792555361745369777AG256227BenignGlanzmann_thrombasthenia|not_specified0.283950.287140.287340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119802555371745369789GA256228BenignGlanzmann_thrombasthenia|not_specified0.283870.28730.287340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119812555381745377825TC256229Benignnot_specified0.083040.090570.120410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119823238841745388241CT346348Likely_benignGlanzmann_thrombasthenia..0.023560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119833238871745388283AG346364Likely_benignGlanzmann_thrombasthenia..0.12320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119843238911745388586TA346367BenignGlanzmann_thrombasthenia..0.723440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119856679521746019322CT669086Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119866679501746022330GA669090Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119876705941746022889CT669091Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119883239181746024660AC345064BenignPyridoxal_5'-phosphate-dependent_epilepsy..0.425521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119893239271746025052AG339061BenignPyridoxal_5'-phosphate-dependent_epilepsy..0.68771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119903239401746026156AG345069BenignPyridoxal_5'-phosphate-dependent_epilepsy..0.807911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119917688941746802008CG704194Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119923240081748067712CTC346473Likely_benignAmelogenesis_Imperfecta,_Dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119933240131748067953TC329082BenignAmelogenesis_Imperfecta,_Dominant..0.653360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119945182621748151908TC508887BenignInterstitial_lung_disease,_nephrotic_syndrome,...0.885820.85530.762781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119952547191748243461GA256266Benign/Likely_benignnot_specified|not_provided0.045750.054450.028350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119966698381748243504CT668060Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119976843531748243736GA669391Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119986698401748245180CT669395Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119992547181748245269CA256269Benignnot_specified|not_provided0.14224.0.12241|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120006700601748245547AG668895Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120016698411748246162GA669396Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120026700611748246231CT669400Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120036705461748246827CT669104Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120046698421748248267AT668904Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120053240721748262119GA339244Likely_benignInfantile_cortical_hyperostosis|Ehlers-Danlos_.....0.131190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120063240761748262181GGTGCT329121Likely_benignInfantile_cortical_hyperostosis|Ehlers-Danlos_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120073240931748262775AG345156Likely_benignInfantile_cortical_hyperostosis|Ehlers-Danlos_.....0.378590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120081979181748263021CT195079Benign/Likely_benignInfantile_cortical_hyperostosis|Ehlers-Danlos_...0.51030.58280.485021|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120096748081748265426AG669404Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120102853621748265495TC269599Benignnot_specified0.970950.984790.978831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120116748071748266669GC668911Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120122549481748267291GC256272Benignnot_specified0.52492.0.541331|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120132549471748268223AG256273Benign/Likely_benignInfantile_cortical_hyperostosis|Ehlers-Danlos_...0.999850.999840.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120146748061748268626AG668913Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120156748051748269302GA669413Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120166748041748269426CT669418Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120176748031748271433AG669424Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120186748021748272055CT669115Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120196749781748273439TC669430Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120206748011748273464TC669118Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120216749771748274291TG668099Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120226749761748274309TC669438Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120236833501748276162CT668928Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120246833431748276252AG669441Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120252549491748276971GC256277Benignnot_specified0.553050.618740.518171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1202625331748437456CG17572BenignPseudoxanthoma_elasticum,_modifier_of_severity.....0.2511|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120273776171748653354CA378501Benignnot_specified0.374230.555420.523960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120282591161754921494AC256279Benignnot_specified0.69691.0.698281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120294031021756348230TG390232Benignnot_specified0.15478.0.149760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120304033851756492800TC390363Benignnot_specified0.328310.40480.37380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120313241731756769979CT345189Likely_benignFanconi_anemia|Breast_and_Ovarian_Cancer_Susce...0.1780.179670.158350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120323242191757184162AC329200BenignMulibrey_nanism_syndrome..0.611821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120333692171757184270AAG353446BenignMulibrey_nanism_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120343242411759533868GC339409BenignIschiopatellar_dysplasia0.11840.234440.180110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120353242491759534987TG346635BenignIschiopatellar_dysplasia|not_specified0.146470.187560.202680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120362610351759557600CT256297BenignIschiopatellar_dysplasia|not_specified0.222360.145450.213260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120373242621759560463CT345229BenignIschiopatellar_dysplasia0.106490.101930.115620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120383242801759561204GA345251BenignIschiopatellar_dysplasia..0.082470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120393242841759561584GT329230BenignIschiopatellar_dysplasia..0.323080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120403242921759757143AC346660Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.762181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120413242941759757169TA345269Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.342251/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120423243211759758416AG329244Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.119610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120432105331759758567CG208407Likely_benignNeoplasm_of_the_breast|Fanconi_anemia|not_spec.....0.392170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120443243221759758571GGACAG339477Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.387980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120453243351759760174GA329258Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.6260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120463243441759760499AG339494Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.621810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120471837021759760996AG185195Benign/Likely_benignNeoplasm_of_the_breast|Neoplasm_of_ovary|Fanco...0.606040.594120.620810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120481337561759763347AG137495Benign/Likely_benignNeoplasm_of_the_breast|Neoplasm_of_ovary|Famil...0.613410.597220.62780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120491837031759763465TC185227Benign/Likely_benignNeoplasm_of_the_breast|Neoplasm_of_ovary|Fanco...0.734280.718790.81511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120506796681759820170CA669160Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120512620051759857809CG256299Benignnot_specified0.78588.0.789741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120522567991761559923CT256305BenignRenal_dysplasia|not_specified0.335690.449160.423520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120532568001761564052AG256306BenignRenal_dysplasia|not_specified0.443260.499890.529550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120542568021761565990GC256307Benignnot_specified0.439490.499650.529950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120552568011761565998AC256308BenignRenal_dysplasia|not_specified0.416190.499580.529950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120562568031761566031GA256309BenignRenal_dysplasia|not_specified0.560130.537260.643170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120572568041761573761TC256310BenignRenal_dysplasia|not_specified0.505310.523340.587460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120582568061761574492GA256312BenignRenal_dysplasia|not_specified0.491760.556180.581870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120593244351761575454AACT339581BenignRenal_dysplasia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120603244381761575637AG329331BenignRenal_dysplasia..0.657950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120613692201761996204TC353449Likely_benignIsolated_growth_hormone_deficiency0.43079.0.363420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120624025201762007498AG390202Benignnot_specified0.659620.595170.56170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120633244741762016440GGCA339623BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120643244791762016727CCACACATATAT346754BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120653244941762017421AG339637BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka.....0.596050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12066928631762019103GT98770BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka...0.174540.163880.140180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120671302361762020348TC135683BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka...0.599340.523690.56150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120686693571762020701TTCCCTCCTCCCCGGGGACC669201Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120696842601762020838GA669463Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120706693561762020866AG668966Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120716693551762021374CT668157Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120726693531762023128CT668161Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120731676521762025238GT178051BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka...0.263650.315550.254390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120741302281762041068TC135675BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka...0.915380.928840.944291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120756693521762041317GT668184Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120766842571762041558GT668195Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120776693511762041604AG668198Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120782558431762042078TC256326Benignnot_specified|not_provided0.801460.884280.808311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120796693491762043357CG668987Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120806842541762044195TC668991Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120816842531762044208AG669478Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120826693481762048467AG668204Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120832558561762049235AG256334Benignnot_specified|not_provided0.989070.987760.994811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120846713471762050513CT669482Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120856713441762050528TC669485Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120866679741762479273AC669214Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120873246301763525082AT345576BenignOligodontia-colorectal_cancer_syndrome..0.421730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120883246331763525300GT339829BenignOligodontia-colorectal_cancer_syndrome..0.083270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120896796671763529821CT668215Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120902595121763533423CA256352Benignnot_specified|not_provided0.157540.121860.174120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120912595101763533768GA256353BenignCarcinoma_of_colon|Oligodontia-colorectal_canc...0.540070.623640.446091/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120922595091763533789TC256354BenignOligodontia-colorectal_cancer_syndrome|not_spe...0.910880.91440.909741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120934962741763534478GA488007Benignnot_provided0.147620.118760.164140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12094160421764210757CA31081BenignAPOH_POLYMORPHISM0.32969.0.541530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120952608311766596463CT256360Benignnot_specified0.12906.0.169530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120965170561768096908AG506140Benignnot_specified..0.818491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120973248541768173731AG346989BenignAndersen_Tawil_syndrome|short_QT_syndrome|Fami.....0.580870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120986676241770118699GA668254Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12099211641770118935CT34016BenignCamptomelic_dysplasia|not_specified|not_provided0.166310.193280.136580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121006676251770119245CG669563Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121013249221770120551AC339974BenignCamptomelic_dysplasia0.364520.401140.354430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121023249311770121339AG347054BenignCamptomelic_dysplasia..0.56110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121033249441770122108GA347097BenignCamptomelic_dysplasia..0.321090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121043249491770122505CTC339992BenignCamptomelic_dysplasia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121053249511771189182AG345723BenignCongenital_disorder_of_glycosylation0.537880.527690.525961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12106959171771192663GA101813BenignCongenital_disorder_of_glycosylation|not_speci...0.446790.49690.449481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12107959191771192873AG101815BenignCongenital_disorder_of_glycosylation|not_speci...0.448720.501340.451281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12108959111771196809AG101807BenignCongenital_disorder_of_glycosylation|not_speci...0.532140.523120.520971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12109959141771197748GA101810BenignCongenital_disorder_of_glycosylation|not_speci...0.53506.0.525361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12110959161771201675TC101812Benignnot_specified0.916270.944190.863621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121113250001772270423GAGCCGCGACCG345743BenignPrimary_ciliary_dyskinesia..0.382991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121123250011772270442AG340046BenignPrimary_ciliary_dyskinesia..0.631791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121132616481772281367AG256376Benignnot_specified0.954180.987460.961461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121142616401772306116CCTC256389Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121151631711772308319GA176498BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.770260.858060.740821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121162616451772308403GA256394Benignnot_specified0.774340.856830.722641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121172616461772308410CT256395Benignnot_specified0.864630.915380.840661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121183250401772913072TC329799Likely_benignRetinitis_pigmentosa-deafness_syndrome..0.213660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121193799951773257986CT376658Benignnot_specified0.659950.795850.657351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121203250621773269258GC345823Likely_benignAmish_lethal_microcephaly..0.536541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121211303271773269530AG135774Benign/Likely_benignAmish_lethal_microcephaly|not_specified|not_pr...0.869750.928980.900161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121221303331773269676CT135780Benign/Likely_benignAmish_lethal_microcephaly|not_specified|not_pr...0.503080.651680.530151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121231303301773279624AG135777Benign/Likely_benignAmish_lethal_microcephaly|not_specified|not_pr...0.936030.961670.889581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121243250691773285461AC347217Likely_benignAmish_lethal_microcephaly..0.861221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12125966731773512653GT102566BenignPontoneocerebellar_hypoplasia|not_specified|no.....0.543731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121261601331773513185CA169401Benignnot_specified.0.707370.455271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121271601231773518203GC169409BenignPontoneocerebellar_hypoplasia|Pontocerebellar_...0.54040.641410.444691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12128966701773518284GC102563BenignPontoneocerebellar_hypoplasia|not_specified|no...0.935030.871720.81431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121291601271773519413CT169413BenignPontoneocerebellar_hypoplasia|not_specified|no...0.66070.624130.56131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121302555421773750859CG256412BenignDeficiency_of_galactokinase|Epidermolysis_bull...0.36552.0.37721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121313252321773758832GA347287Conflicting_interpretations_of_pathogenicityDeficiency_of_galactokinase|not_provided0.000770.00056.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121322632401773824121TC256415BenignFamilial_hemophagocytic_lymphohistiocytosis|He...0.519480.484390.526160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121332632361773826406GC256419Benignnot_specified0.198260.18560.164140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121342632281773827205TC256423BenignFamilial_hemophagocytic_lymphohistiocytosis|He...0.493080.366630.49940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121353252551773830463GA345985Conflicting_interpretations_of_pathogenicityFamilial_hemophagocytic_lymphohistiocytosis|no...8e-05..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121362632221773830996CT256429Benign/Likely_benignFamilial_hemophagocytic_lymphohistiocytosis|no...0.206440.189740.157550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121372632471773836162CG256440BenignFamilial_hemophagocytic_lymphohistiocytosis|He...0.48408.0.490220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121382632291773839214GC256449Benignnot_specified0.22919.0.177120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121392632141773839366CT256451BenignHemophagocytic_lymphohistiocytosis,_familial,_...0.331160.252460.277360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121403253061773938356CCA347341Likely_benignPseudoneonatal_adrenoleukodystrophy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121413253201773938957CT346044BenignPseudoneonatal_adrenoleukodystrophy.0.576090.450680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121423253561773941955GA346060Likely_benignPseudoneonatal_adrenoleukodystrophy..0.109630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121433253611773942150AG346062BenignPseudoneonatal_adrenoleukodystrophy..0.469850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121443253651773942196CG347373Likely_benignPseudoneonatal_adrenoleukodystrophy..0.026561|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121452592231773949540GC256459BenignPseudoneonatal_adrenoleukodystrophy|not_specif...0.508690.642420.550720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121463254081774467204CT346095Likely_benignHowel-Evans_syndrome..0.018970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121473254551774475024GA347434BenignHowel-Evans_syndrome0.795250.878650.765181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121483254691774477620CT340410BenignHowel-Evans_syndrome0.124370.152460.149760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121493254991774541129AG340449BenignRetinitis_Pigmentosa,_Recessive.0.517530.478631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121505182641775303298TC508889BenignAmyotrophy,_hereditary_neuralgic0.862330.885270.918731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121515182661775401190GA508891BenignAmyotrophy,_hereditary_neuralgic.0.297240.296730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121523255981775495523AG346243BenignHereditary_Neuralgic_Amyotrophy_(HNA).0.037020.010780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121533256141775496460TC330319BenignHereditary_Neuralgic_Amyotrophy_(HNA)..0.432110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121544035481776130575AT390263Benignnot_specified0.5559.0.552320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121554035471776131070GA390212Benignnot_specified0.57650.534330.540340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121564035491776134828CA390381Benignnot_specified0.623020.581610.601840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121574026721776423097GA390396Benignnot_specified0.622480.744640.684511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121584026741776433898TC390282Benignnot_specified0.947150.985090.950881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121594026761776449505GC390285Benignnot_specified0.485160.517370.466450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121604026771776462770GA390401Benignnot_specified0.670020.731180.650161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121614026791776472768GA390269Benignnot_specified0.343480.274980.37560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121624026801776481693CG390288Benignnot_specified0.644830.671170.642370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121634026811776482432AG390405Benignnot_specified0.6351.0.654351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121644026841776491194GA390294Benignnot_specified0.212520.317010.237821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121654026851776496492AG390408Benignnot_specified0.856950.862510.929711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121664026861776497920CA390418Benignnot_specified0.642960.682290.738821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121674026871776498692CT390419Benignnot_specified0.862820.86520.930911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121684026881776503527GA390220Benignnot_specified0.32405.0.279351|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121694026891776503560CA390271Benignnot_specified0.10766.0.081270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121704026901776503593TC390223Benignnot_specified0.653980.573680.578470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121714026921776521121TC390224Benignnot_specified0.194610.223380.146970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121724026931776522785CT390305Benignnot_specified0.129140.152550.092450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121734026941776525565AG390274Benignnot_specified0.626560.590350.595051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121744026951776525759GC390276Benignnot_specified0.143090.165710.12640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121754026961776528591CT390422Benignnot_specified0.526250.510060.460660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121764026971776528790AG390281Benignnot_specified0.520750.523590.458870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121774026981776528831GA390287Benignnot_specified0.520530.529950.474240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121784026991776535948TC390292Benignnot_specified0.76415.0.738021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121794027001776556811CT390309Benignnot_specified0.298070.435510.347640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121804027011776557862TC390424Benignnot_specified0.95118.0.94011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121811668071778013724GC176025BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.99378.0.957271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121821628501778055758TG176509BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.521050.488720.464261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121831787111778071052TC176648BenignPrimary_ciliary_dyskinesia|Glycogen_storage_di...0.7372.0.714261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121843257691778075462GC346306Likely_benignPrimary_ciliary_dyskinesia|Glycogen_storage_di.....0.118011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1218540201778078656GA19059Benign,_otherGlycogen_storage_disease,_type_II|Acid_alpha-g.....0.011580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12186924841778078709TC98393BenignPrimary_ciliary_dyskinesia|Glycogen_storage_di...0.731580.736680.714461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121876805901778079224GA669114Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121886802601778079305CG669116Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121896802631778079310TC668277Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121902553631778079509TG256515Benignnot_specified0.669150.675760.605631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12191924851778079544CG98394BenignGlycogen_storage_disease,_type_II|not_specifie...0.672690.675860.602841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12192924861778079597AG98395BenignGlycogen_storage_disease,_type_II|not_specifie...0.672540.674550.600841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12193924881778079669GA98397Benign/Likely_benignGlycogen_storage_disease,_type_II|not_specifie...0.672410.675990.602441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121946802651778081140TC669594Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12195924891778081526AAGCAGCGG98398BenignGlycogen_storage_disease,_type_II|not_specifie......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121961671111778081551TC177734Benignnot_specified0.66360.674070.601041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12197924911778081707GA98400BenignGlycogen_storage_disease,_type_II|not_specifie...0.690760.750260.604431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12198924611778082504GA98370BenignGlycogen_storage_disease,_type_II|not_specifie...0.670770.678440.602841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121996805911778083475AG669364Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122006802691778083565GA669366Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12201924621778083726AG98371BenignGlycogen_storage_disease,_type_II|not_specifie...0.73020.731240.711661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122026802701778084306AG669602Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12203924641778084507GC98373BenignGlycogen_storage_disease,_type_II|not_specifie...0.670310.676040.603041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122042553521778084688CA256521Benignnot_specified0.669850.674830.599241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12205924661778084769GA98375Benign/Likely_benignGlycogen_storage_disease,_type_II|not_specifie...0.209370.230910.159551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12206924701778086846AG98379BenignGlycogen_storage_disease,_type_II|not_specifie...0.733360.744080.715061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122076805921778087428GA669119Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12208924741778090928GA98383BenignGlycogen_storage_disease,_type_II|not_specifie...0.819160.756990.789341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122096802611778091201AT669122Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12210924761778091405GA98385BenignGlycogen_storage_disease,_type_II|not_specifie...0.7332.0.711861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12211924811778092063GA98390BenignGlycogen_storage_disease,_type_II|not_specifie...0.6048.0.509391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122124956671778092195GA487921Likely_benignnot_provided0.003150.003440.0020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122136802721778092844CT669367Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122143258061778093549GT330474Likely_benignGlycogen_storage_disease,_type_II..0.155951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122154024841778162170GA390428Benignnot_specified0.29840.348060.301321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122164024851778171944GC390226Benignnot_specified0.35914.0.370210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122173258211778183936GA346328BenignSanfilippo_syndrome..0.448280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12218926101778184393CT98518BenignSanfilippo_syndrome|Mucopolysaccharidosis,_MPS...0.293940.359160.345850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12219926121778187954AG98520BenignMucopolysaccharidosis,_MPS-III-A|not_specified...0.46549.0.514180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122202555151778188963GA256542Benignnot_specified|not_provided0.549810.535590.556910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12221441511779478007GA53319Benignnot_specified0.316390.288240.18531/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12222441501779478019GA53318Benignnot_specified0.754580.790220.756191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12223441471779478916GT53315Benignnot_specified0.419370.498920.558910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122243258501779617534AG330578BenignRetinitis_Pigmentosa,_Recessive.0.555980.668730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122253258541779617705GA347773Likely_benignRetinitis_Pigmentosa,_Recessive.0.090390.070090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122263258571779617830GA346443Likely_benignRetinitis_Pigmentosa,_Recessive.0.100240.070090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122273258581779617871AG340825BenignRetinitis_Pigmentosa,_Recessive.0.562560.668730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122283258601779618059CT340827BenignRetinitis_Pigmentosa,_Recessive0.434180.474750.585060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122296695041779670122GA669126Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122307689221779687218GA704472Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122314979691779891147TC489393Benignnot_specified0.981470.995080.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122323259231779894886CT346454Uncertain_significanceCutis_laxa,_recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122334029321780377690TG390333Benignnot_specified0.39966.0.481430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1223437566318673443TTTAAAGT362508drug_responsecapecitabine_response_-_Efficacy|fluorouracil_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12235260633182705700AG256625Benignnot_specified0.60830.685710.584671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12236260637182707619GA256629Benignnot_specified0.711530.693930.69031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12237260640182724930AT256632Benignnot_specified|not_provided0.32876.0.206271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12238260650182763697CT256639Benignnot_specified0.396540.372110.275761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12239260652182771516GT256641Benignnot_specified0.98220.994860.980431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12240326550182917357GA346757BenignMajeed_syndrome..0.545531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12241326612182919606AT331014BenignMajeed_syndrome..0.691291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12242260433182920288GA256646BenignMajeed_syndrome|not_specified0.247420.313060.362220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12243668717182922450TC669699Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12244676925182927023GT669708Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12245439863182937646AG433667BenignMajeed_syndrome0.29009.0.413540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12246676922182961033TA668327Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12247226828183067278AG230806Benignnot_specified|Cardiovascular_phenotype|not_pro...0.570650.56960.594450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12248226826183075712CA230810Benignnot_specified0.591860.539870.62280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12249226825183075746GA230812Benignnot_specified|Cardiovascular_phenotype|not_pro...0.160370.21420.183510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12250226821183089522GT230819Benignnot_specified0.80730.809220.800321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12251226819183100429GA230821Benignnot_specified|Cardiovascular_phenotype|not_pro...0.366980.442240.348040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12252226815183126811AG230838Benignnot_specified|Cardiovascular_phenotype|not_pro...0.179580.199730.254391|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12253226796183176040CG230883Benignnot_specified|Cardiovascular_phenotype|not_pro...0.74563.0.757191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12254226830183188976AG230890Benignnot_specified|Cardiovascular_phenotype|not_pro...0.341330.437350.443291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12255674961183447871TC669466Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12256403532183452222CTC390317Benignnot_specified.0.329560.255590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12257777265183879181CT704599Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12258803471186997818AC791881BenignPoretti-Boltshauser_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12259803472187031986TTA791882BenignPoretti-Boltshauser_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12260803473187034508TG791883BenignPoretti-Boltshauser_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122619054189117867TC24093BenignParkinson_disease,_mitochondrial|Mitochondrial....0.800080.778950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12262678068189119156TC669645Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12263129703189119489AT135149Benign/Likely_benignMitochondrial_complex_I_deficiency|MITOCHONDRI...0.129810.084970.075080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12264369253189134354CG353482Likely_benignMitochondrial_complex_I_deficiency..0.075480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122652615271810691216GA256560Benignnot_specified0.377830.347810.31430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122662615261810691357GA256561Benignnot_specified0.295330.284530.201080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122672615251810696227CT256562Benignnot_specified0.320770.290750.219250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122682615101810741011GA256577Benignnot_specified0.842750.80040.843651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122692615091810748603AT256578Benignnot_specified0.65637.0.646971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122702615081810752666CT256579Benignnot_specified0.309240.265420.331871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122712615071810758023GA256580Benignnot_specified0.823920.796160.823081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122722615051810762962GA256582Benignnot_specified0.789090.784960.778951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122732615041810763007TC256583Benignnot_specified0.83640.80110.838061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122742615031810787047GA256584Benignnot_specified0.836770.853760.862421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122756263311811876613TG614665BenignDystonia_250.058510.06280.043930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122766779421812337688GC669627Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122776832111812343871AG669386Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122781282871812348285TC133736Benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.779260.749250.709861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122791282861812351342CT133735Benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.686150.720540.62321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122806832071812359215AT669388Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122811363121812359920GA140015Benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.684840.717670.619611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122823261261813882230GC346568BenignGlucocorticoid_Deficiency..0.50121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122833261451813883525TA340986BenignGlucocorticoid_Deficiency..0.521171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122843261741813883939CT346601BenignGlucocorticoid_Deficiency..0.506591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122853261751813884009GA330801BenignGlucocorticoid_Deficiency..0.341051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122863261881813884513CT346613BenignGlucocorticoid_Deficiency..0.214261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122873261891813884566CT346614BenignGlucocorticoid_Deficiency..0.504591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122883261941813884981CT341049Conflicting_interpretations_of_pathogenicityGlucocorticoid_Deficiency|not_provided0.000310.00073.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122896781351819399738TA669668Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122906780671819423963GTG669672Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122914040601819752072TTACC403233Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122926840371820516374CA669410Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122936840381820516381CT669414Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122946739361820555219TC669415Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122956691071820562518GA669685Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122966704871820568937GA669686Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122976840451820577330GA669693Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122986733331820577456TA669695Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122995588801821120381TTA549772Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123001939821821124907AAC191145Benign/Likely_benignNiemann-Pick_disease_type_C1|not_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12301927011821124945CG98608BenignNiemann-Pick_disease,_type_C|Niemann-Pick_dise...0.734660.717720.831670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123021298111821148863AG135257Benign/Likely_benignNiemann-Pick_disease,_type_C|Niemann-Pick_dise...0.138090.144440.109820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123033262891821166545GC347983Likely_benignNiemann-Pick_disease,_type_C..0.090660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123044030251821413869TC390339Benignnot_specified0.649540.663130.62441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123054030261821437931GC390344Benignnot_specified0.517280.496240.343651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123064030271821441717CT390346Benignnot_specified0.503150.499540.340661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123072852441821494685AG269481Uncertain_significanceEpidermolysis_bullosa,_junctional|Laryngoonych...0.000310.0003.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123082555761821511089AG256613BenignEpidermolysis_bullosa,_junctional|Laryngoonych....0.9999811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123092555771821511172GC256614BenignEpidermolysis_bullosa,_junctional|Laryngoonych...0.96079.0.948881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123102555791821526087CT256616Likely_benignnot_specified0.546440.536320.359631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123112555801821529722GA256617BenignEpidermolysis_bullosa,_junctional|Laryngoonych...0.54460.537730.359031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123124028001828611139AC390307Benignnot_specified0.999920.9999811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123136721251828659724TC669745Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123146721241828660500AG668334Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123156834671828660611TC668344Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123166838431828663301GCGAGGCAGGAGAATCACAG669755Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123176721231828667964GA669220Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123186834681828669839CT669434Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123196721071828671212TG669225Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123206710901828673894AG668367Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123214028011828898294AG390348Benignnot_specified0.479930.434430.362620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123224028021828913599CT390312Benignnot_specified0.436490.434350.327680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123233264161828956904CT348146Likely_benignLocalized_AR_Hypotrichosis0.141240.143150.121610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123243264181828968371GA346896BenignLocalized_AR_Hypotrichosis0.694330.745270.720651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123253264211828968959CT341369BenignLocalized_AR_Hypotrichosis0.778760.774270.804911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123263264411828986333AC331139BenignLocalized_AR_Hypotrichosis0.924340.920260.965861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123273264521828993183AG348172BenignLocalized_AR_Hypotrichosis0.391740.443020.393370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123283264581828993501CA341405BenignLocalized_AR_Hypotrichosis0.721930.723910.743211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123296834721829078516AC669769Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123306726091832346149GT669801Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123316834781832373716AT669803Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123326834791832373736AC669804Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123336711111832459704AG669509Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123346726621832461896AG668453Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123356726651832462365CT669840Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123366834851832462418CT669842Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123376726941832464945GC668454Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123381371811832470291GA140884Benignnot_specified.0.240610.266971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123391598841842456653GA169419Likely_benignnot_specified.0.507270.493010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123403267251842456670CCTCTT331273BenignSchinzel-Giedion_syndrome|not_specified0.53440.514580.493810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123411598851842529996GC169420BenignSchinzel-Giedion_syndrome|not_specified|not_pr...0.1853.0.156750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123421598751842533130AG169429BenignSchinzel-Giedion_syndrome|not_specified|not_pr...0.899590.877480.906951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123431598811842643426GA169435Conflicting_interpretations_of_pathogenicitySchinzel-Giedion_syndrome|not_specified.00.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123443267961842646634ATA347040BenignSchinzel-Giedion_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123456735021843481075GA656487Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123466800681843490602GA656488Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123474028331843497710AG390442BenignVici_syndrome|not_specified|not_provided0.479680.49090.426920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123486833341843666774TC669516Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123496833331843666786CT669518Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123503775341843669980TC375923Benignnot_specified0.409970.381620.315890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123516833261843670190TC668456Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123526833231843671400TC669523Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123536833221843672015TC669851Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123546833201843675364TC669525Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123556833191843678625GC668463Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123562625241844063718ACA256660Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.239660.26875.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123571783941844087489CT176692Conflicting_interpretations_of_pathogenicitynot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.001530.004650.00160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123581638951844087504GA176555Benign/Likely_benignnot_specified|not_provided0.00110.001440.00021|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123591910901844109033TC188895BenignDeafness,_autosomal_recessive_77|not_specified..0.620210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12360479341844126909TC57098Benign/Likely_benignDeafness,_autosomal_recessive_77|not_specified...0.771570.767510.694690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123616688691844682891CT669542Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123626754601844702502AC669552Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123633269241847349546AAT348441Uncertain_significanceDiarrhea_with_Microvillus_Atrophy...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123643269561847350753TC347141Uncertain_significanceDiarrhea_with_Microvillus_Atrophy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123653269571847350832AT348461Uncertain_significanceDiarrhea_with_Microvillus_Atrophy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123663269901847352533GA347160BenignDiarrhea_with_Microvillus_Atrophy..0.535340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123673270141847375932CG348523BenignCongenital_microvillous_atrophy|not_specified|...0.46357.0.354030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123683270251847398549GA348528Benignnot_specified|Diarrhea_with_Microvillus_Atrophy0.214510.253350.299920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123693270281847404124AG348529Benign/Likely_benignnot_specified|Diarrhea_with_Microvillus_Atrophy0.041710.059130.053120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123703270301847405304AG347190Benignnot_specified|Diarrhea_with_Microvillus_Atrophy0.20262.0.289740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123713270311847405425TTGAG347192Benignnot_specified|Diarrhea_with_Microvillus_Atrophy0.30170.342010.404750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123723270531847455923CT341822BenignCongenital_microvillous_atrophy|not_specified|...0.51370.483070.411340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123733270871847563299TC341861BenignCongenital_microvillous_atrophy|not_specified|...0.977210.993090.973441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123742625601847777244CT256670Benignnot_specified0.305060.300290.193490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123752625571847777358TA256673Benignnot_specified0.320240.296070.296530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123762625531847778172AG256676Benignnot_specified0.31850.319050.200880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123776807831848572984GA668486Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123786770791848581601CA669334Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123796807841848593133GA669338Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123806807851848603403TC669342Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123813271751848609968AG347320BenignMyhre_syndrome|Hereditary_hemorrhagic_telangie.....0.202680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123823272081848610697CAAGAAC331704BenignMyhre_syndrome|Hereditary_hemorrhagic_telangie......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123833272111848610831AC347339BenignMyhre_syndrome|Hereditary_hemorrhagic_telangie.....0.37820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123847694431848723145CGCCGCCGCGC704620Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123853272281852889967TC347356BenignPitt-Hopkins_syndrome..0.397360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123863272311852890160AG341965BenignPitt-Hopkins_syndrome..0.443690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123873272441852890946TTTC348698BenignPitt-Hopkins_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123883272461852891178AG341976Likely_benignPitt-Hopkins_syndrome..0.00240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123893272681852892561GACTG348735Likely_benignPitt-Hopkins_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123903272851852893504ATA342011BenignPitt-Hopkins_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123913272871852893926GGA342018BenignPitt-Hopkins_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123923272931852894479CCAA342031BenignPitt-Hopkins_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12393935441852895531TC99449BenignPitt-Hopkins_syndrome|History_of_neurodevelopm...0.364680.371360.342450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123946708161852896000AG668503Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123956708151852896003AG669348Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123966686531852896630GT669558Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123976722261852901607AG669561Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123986706871852922000TC669572Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123996707031852924317CG669353Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124006732421852924695CT669584Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124016722251852927400TC668507Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124021600891852942827GA169448Benignnot_specified|not_provided0.533450.489250.570290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124031600831853070914GA169454Benignnot_specified|not_provided.0.217290.192290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124046798551853177670TC669880Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124056749571853177740AT668513Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124066749561853177774GC669372Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124076749551853178061GA668520Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124088034981853303101CG791872BenignPitt-Hopkins_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124093273161855212316GT348769BenignProtoporphyria,_erythropoietic,_1..0.228631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124103273281855213058AC342067BenignProtoporphyria,_erythropoietic,_1..0.174920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124113273351855213381CA347443BenignProtoporphyria,_erythropoietic,_1..0.765381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124123273661855215119TC331802BenignProtoporphyria,_erythropoietic,_1..0.99921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124133273731855215418AG348807BenignProtoporphyria,_erythropoietic,_1..0.99921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124142553121855221648TC256682BenignProtoporphyria,_erythropoietic,_1|not_specified0.764650.702970.757590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124152553111855226383GC256683BenignProtoporphyria,_erythropoietic,_1|not_specified0.76365.0.74960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124163274341855240505CT331897BenignProtoporphyria,_erythropoietic,_10.121410.102910.051720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124175501855247454GA15589BenignJaundice|Erythema|Protoporphyria,_erythropoiet...0.2588.0.334671|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124183274401855313783AT347495BenignProgressive_familial_intrahepatic_cholestasis..0.147160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124193274451855314466AG342149BenignProgressive_familial_intrahepatic_cholestasis..0.147360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124203274491855314820CA331916BenignProgressive_familial_intrahepatic_cholestasis..0.466050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124212598231855315959GA256688BenignProgressive_familial_intrahepatic_cholestasis|...0.181160.230620.140580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124222598281855362532TG256696BenignProgressive_familial_intrahepatic_cholestasis|...0.9897.0.992611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124232598271855364830GA256697Benignnot_specified0.411810.476260.442090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124242598261855364852AG256698BenignProgressive_familial_intrahepatic_cholestasis|...0.99308.0.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124252259961855816791GA227795drug_responsediuretics_response_-_Efficacy|hydrochlorothiaz...0.340340.284080.276160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124264170011855996244CT402844Benignnot_provided0.004040.004120.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124273275141856934863GCCG347559Likely_benignAnophthalmia_-_microphthalmia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124283275191856934917GA348931Likely_benignAnophthalmia_-_microphthalmia..0.214460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124293275211856934964CT342194Likely_benignAnophthalmia_-_microphthalmia..0.205670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124303275391856995396AG348942BenignCombined_deficiency_of_factor_V_and_factor_VII.....0.326080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124312597931857000303GA256703Benignnot_specified0.349530.316330.356030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124323275831857098195GT342223BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.792731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124333275881857098344CT342225BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.821091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124343275911857098391GA348981BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.859821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124353275941857098636CG347639BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.44010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124363275961857098713TGT348983BenignHennekam_lymphangiectasia-lymphedema_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124373275971857098742GT342230BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.859631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124383276031857099335AG348991BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.859031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124393276201857100187GGT342242BenignHennekam_lymphangiectasia-lymphedema_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124403276331857100410TC347684BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.43490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124413276391857100768GA349014BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.855231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124423276401857100779CT347693BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.540541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124433276451857100898AG347695BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.852641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124443276461857100913CT332078BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.851241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124453276551857101120GA342260Likely_benignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.093651|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124463276831857102326AC332119BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.301320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124472623491857103126GA256709Conflicting_interpretations_of_pathogenicityHennekam_lymphangiectasia-lymphedema_syndrome_...0.009760.010040.006990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124482623551857115203TC256712BenignHennekam_lymphangiectasia-lymphedema_syndrome_...0.610490.531080.540940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124492623531857134152AG256714Benignnot_specified0.95410.98730.956271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124502623521857136869AG256715Benignnot_specified0.455020.4530.432310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124518035051857136943GA791879BenignHennekam_lymphangiectasia-lymphedema_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124522259611857851097TC227796drug_responseantipsychotics_response_-_Toxicity/ADR..0.240020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124532260031857882787CA227797drug_responseamisulpride_response_-_Toxicity/ADR|aripiprazo.....0.351240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124545182811859805532TC508906BenignHistory_of_neurodevelopmental_disorder|Multipl....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124552591771859992547GA256719Benign/Likely_benignOsteopetrosis|Paget_disease_of_bone|not_specified..0.236821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124561932591859992577TC190423Benign/Likely_benignOsteopetrosis|Paget_disease_of_bone|not_specified.0.1250.235021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124572591831860036083AG256723Benign/Likely_benignOsteopetrosis|Paget_disease_of_bone|not_specified0.953480.956220.980831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124586841561867671745TC669610Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124596841551867672139TC669881Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124601301881867718688AG135635Benignnot_specified0.802690.918440.790741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124616841541867741490GC669616Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124626704931867788599TC668532Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124636841351867857478TA669622Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124646841341867858249TC669890Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124653277611867863850TTCTC349148Benignnot_specified|Disease_Association_NOS|not_prov......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124661301791867871343AC135626Benignnot_specified0.72727.0.712261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124671308211872343008TC136266Likely_benignnot_specified0.998750.989830.993611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124681308261872776121GA136271Likely_benignnot_specified0.761510.832190.760381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124693277741872922851AGA,AGGG349158BenignAural_atresia,_congenital...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
124703277781872922958AAG332189Uncertain_significanceAural_atresia,_congenital...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124711932921877440128TG190456Benignnot_specified.0.679240.655350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124722595241877470834CT256726Benignnot_specified..0.735020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124738035071877488698GGTGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCA791884BenignCongenital_Cataracts,_Facial_Dysmorphism,_and_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124741288651877513721TC134313BenignCongenital_Cataracts,_Facial_Dysmorphism,_and_...0.896430.966570.895171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247577307519804921CT705350Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247666782019851976GA670430Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247713719919855966CA140902Benignnot_specified0.13142.0.048520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247840253219860852GC390449Benignnot_specified0.540520.591380.44090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247928652419917526AG270761Benignnot_specified|not_provided0.121230.259110.18630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1248044766019920642TA442261Benignnot_specified.0.782710.783951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12481328217191206602CT332571Likely_benignPeutz-Jeghers_syndrome..0.003790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12482256203191207238GT256769Benignnot_specified0.229510.324740.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12483256205191219274GA256771Benignnot_specified0.423640.466050.530150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12484256206191219443GGCGGGGGC256772Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12485328243191228191TC332606BenignPeutz-Jeghers_syndrome..0.707870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12486671566191384246CT668709Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12487683138191388320GA670152Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12488129702191388538CT135148Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.540620.550220.455671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12489684336191391327CT669861Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12490683141191391361AG669623Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1249121067191399056CT33919BenignDeficiency_of_guanidinoacetate_methyltransfera...0.152930.129420.113220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12492440243191438865CT433894Benignnot_specified0.048590.087280.049320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12493430490191496404GA422250Uncertain_significancenot_provided0.000850.000830.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12494381531192251247AG377366Benign/Likely_benignPersistent_Mullerian_duct_syndrome|not_specifi....0.008390.004790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12495518297192251512TA508922BenignPersistent_Mullerian_duct_syndrome.0.822570.918931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1249646571193586543GA55736Benignnot_specified0.259650.146780.226840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12497682948193589413TC669896Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1249846572193589435CT55737Benignnot_specified0.2322.0.204470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12499263264193595032CT256888Benignnot_specified0.407660.423640.329671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12500263269193595794AG256889Benignnot_specified0.703160.598170.541731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12501263267193600198CT256891Benignnot_specified..0.053710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12502328952193769753GA343371BenignMacular_degeneration|Cone-Rod_Dystrophy,_Dominant..0.816890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12503329155193924771ATA333494BenignCerebellar_ataxia,_Cayman_type...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12504329196193927176AG333507BenignCerebellar_ataxia,_Cayman_type..0.832870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12505128959193977486AG134406Benignnot_specified|not_provided0.853480.849850.913141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12506128958193979408AG134405Benignnot_specified|not_provided0.853530.849270.913141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12507561820194094775GA553028Benignnot_provided..0.454470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1250840835194099187TC49305BenignCardiofaciocutaneous_syndrome_4|not_specified|...0.744130.771760.773560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1250940816194101062GT49286BenignCardiofaciocutaneous_syndrome_4|Rasopathy|not_...0.417940.547170.433310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12510561536194102132AC553038Benignnot_provided..0.330070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12511561366194117290TC553042Benignnot_provided..0.795531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12512403542194818378TC390426Benignnot_specified0.731510.66520.725640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12513242770195844792AC32755....0.25280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12514768957195866736TC705303Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12515330240195903807GT349414Likely_benignMitochondrial_complex_I_deficiency.0.674980.681510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12516330244195903936TC334435Likely_benignMitochondrial_complex_I_deficiency.0.748870.726640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12517330250196494502TC344317BenignDystonia|Leukodystrophy,_hypomyelinating,_6..0.401560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12518330285196681991GA349446BenignMacular_degeneration|C3_deficiency|Atypical_he...0.086960.085250.091250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12519330310196707129GA350452Likely_benignMacular_degeneration|C3_deficiency|Atypical_he...0.002620.002090.00080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12520403601196821625CT390471Benignnot_specified0.145630.127020.092851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12521403602196822219TC390329Benignnot_specified0.221430.260940.211261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12522330380197114288CT350496BenignLeprechaunism_syndrome|Pineal_hyperplasia_AND_.....0.717651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12523330433197116778TGT350526BenignLeprechaunism_syndrome|Pineal_hyperplasia_AND_......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12524330436197116963TC334616BenignLeprechaunism_syndrome|Pineal_hyperplasia_AND_.....0.87741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1252514707197125518CT29746Conflicting_interpretations_of_pathogenicityDiabetes_mellitus_type_2|Insulin-resistant_dia....0.0090.004990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12526439832197166138GA433296Benignnot_specified0.202060.239240.204270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12527198697197166376CT195858BenignLeprechaunism_syndrome|Pineal_hyperplasia_AND_...0.22551.0.244810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12528439831197167951TG433297Benignnot_specified0.23143.0.24780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12529439830197170517AG433299Benignnot_specified0.541830.472210.549720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12530193063197293898GC190228BenignLeprechaunism_syndrome|Pineal_hyperplasia_AND_....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12531261324197593589CT257262Benign/Likely_benignMucolipidosis_type_IV|not_specified|not_provided0.301860.287450.255590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12532129977197606908GC135423Benign/Likely_benignnot_specified|Spastic_Paraplegia,_Recessive|no...0.17815.0.118410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12533330520197607441CT344527Benign/Likely_benignnot_specified|Spastic_Paraplegia,_Recessive0.345120.281370.243810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12534330522197607564TC334701Benignnot_specified|Spastic_Paraplegia,_Recessive|no...0.699640.638550.694490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12535129978197615903GA135424Benign/Likely_benignnot_specified|Spastic_Paraplegia,_Recessive0.232160.21360.202080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12536380864197619760AC379673Benignnot_specified0.356390.36880.347050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12537380865197620116AG376888Benignnot_specified0.359050.392490.346850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12538680709197620914AG668986Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12539378402197621475TG376892Benignnot_specified0.1780.129770.12560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12540680710197623474TC670169Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12541667947197623621TTTCTC670093Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12542240699197623941GA243570Conflicting_interpretations_of_pathogenicitySpastic_paraplegia_39|not_specified|Spastic_Pa...0.01030.010980.004190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12543680711197624335CT670174Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12544429198197626013ACA422303Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12545683454197694393GA668992Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12546683460197695977CG670177Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12547683462197696138GA670415Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12548403501197698320CT390372Benignnot_specified0.298940.390250.24780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12549260104197703605CT257265BenignFamilial_hemophagocytic_lymphohistiocytosis|no...0.426570.404370.482430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12550260087197710040TC257278Benignnot_specified0.419430.393180.526960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12551260088197710210AG257280Benignnot_specified0.425430.461960.516370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12552260089197711221TC257281BenignFamilial_hemophagocytic_lymphohistiocytosis|no...0.415560.462640.504190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12553260092197712161CT257284Benignnot_specified0.101170.105680.056110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12554260094197712277AG257286BenignFamilial_hemophagocytic_lymphohistiocytosis|He...0.667310.635160.706070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12555260100197712425GC257290Benignnot_specified0.344130.358220.31570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12556260102197712585TG257292Benignnot_specified0.66639..0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12557137647197992976TC141350Benignnot_specified|not_provided0.032450.030770.014180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12558137657198000045CT141360Benignnot_specified0.270460.261280.172720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12559508144198612914GA508029Benignnot_specified0.070630.085490.12840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12560518307198645786AC508932BenignWeill-Marchesani_syndrome_1|not_provided0.999850.999890.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12561330587198651562AG349596BenignWeill-Marchesani_syndrome|not_provided0.217280.208340.18470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12562330610198669931GC344604BenignWeill-Marchesani_syndrome|Weill-Marchesani_syn...0.78170.79940.893971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125637708061910084460AG705381Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125641807251910218030CT178886associationCataplexy_and_narcolepsy..0.665541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125651807271910222195AG178887associationCataplexy_and_narcolepsy..0.62241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125661807281910226052GA178888associationCataplexy_and_narcolepsy..0.655551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125671807301910227010AG178889associationCataplexy_and_narcolepsy..0.643171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125686805531910253184AG669651Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125696812951910257245GA669394Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125702575381910265248TC256731Benignnot_specified|Dementia,_Deafness,_and_Sensory_...0.488240.517970.533351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125712575371910265312TC256732Benignnot_specified|Dementia,_Deafness,_and_Sensory_...0.9897.0.995811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125722575361910267077TC256733Benignnot_specified|Dementia,_Deafness,_and_Sensory_...0.491160.518760.533951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125733279141910270746GAAGA,G332327BenignDementia,_Deafness,_and_Sensory_Neuropathy...1|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
125741371331910273372TC140836Benignnot_specified|Dementia,_Deafness,_and_Sensory_...0.086270.131960.198280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125756793191910279189TC669428Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125766793181910284778AG669912Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125775060851910334663TG497508Benignnot_specified0.6327.0.551921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125783800381910426422AC377003Benignnot_specified0.468750.567550.492810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125793800371910426628TC379161Benignnot_specified0.513620.489370.492810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125806733011910463480CG668546Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125816733001910464687AG668547Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125826777271910467565CT669437Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125831378681910468668CG141571Benign/Likely_benignnot_specified|Familial_Atypical_Mycobacteriosi...0.123120.121950.096450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125842590411910472933AG256741Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.526450.508210.533151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125851378651910473138AG141568Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.273050.321710.329870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125866732991910473392GA669946Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125876771501910473570TG669654Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125881378641910475649CT141567Benign/Likely_benignnot_specified|Familial_Atypical_Mycobacteriosi...0.057740.064020.043730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125892590401910475652CA256742Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.224590.276840.265781|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125903279651910490402AG342535BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_R.....0.178710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125912568661910883126CG256744Benignnot_specified0.566350.552780.557111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125922108551910887762GGCCTCTGA208503Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125936793111910897613GA669952Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125946793121910904689GC669670Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125956765201911129600CT668593Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125966765211911134090AG669691Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125972267101911221454TC230979Conflicting_interpretations_of_pathogenicityFamilial_hypercholesterolemia_1|not_specified|....0.9999311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125982519971911227554CT246298Benign/Likely_benignFamilial_hypercholesterolemia_1|not_specified0.111030.115840.088860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12599364601911231203GA45123Conflicting_interpretations_of_pathogenicityFamilial_hypercholesterolemia|Familial_hyperch...0.0090.006940.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126002522621911233941AG246555Benign/Likely_benignFamilial_hypercholesterolemia_1|not_specified0.738740.776210.780150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126012522771911238548AG246570Likely_benignFamilial_hypercholesterolemia_1..0.856631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126022659071911238807CT260662BenignFamilial_hypercholesterolemia_10.220440.247610.231830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126032659081911241877GA260663BenignFamilial_hypercholesterolemia_10.22208.0.234030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126042659101911242044GA260665Benign/Likely_benignFamilial_hypercholesterolemia_10.2170.246390.233630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126053280581911242307GC332460Likely_benignFamilial_hypercholesterolemia_1.0.842430.7521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126063280641911242496GA349296Likely_benignFamilial_hypercholesterolemia_1..0.31150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126073280701911242658TC348008Likely_benignFamilial_hypercholesterolemia_1..0.637180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126083280721911242765AG332467Likely_benignFamilial_hypercholesterolemia_1..0.234430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126093280861911243160GA349320Likely_benignFamilial_hypercholesterolemia_1..0.234430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126103280891911243223TCTAT349323Likely_benignFamilial_hypercholesterolemia_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126113280911911243254TC332482Likely_benignFamilial_hypercholesterolemia_1..0.800921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126123280951911243328CG342679Likely_benignFamilial_hypercholesterolemia_1..0.234230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126133280971911243346TC348015Likely_benignFamilial_hypercholesterolemia_1..0.163741|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126143280991911243368TC348025Likely_benignFamilial_hypercholesterolemia_1..0.234230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126153281011911243422CT349330Likely_benignFamilial_hypercholesterolemia_1..0.110420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126163281021911243445AG349331Likely_benignFamilial_hypercholesterolemia_1..0.259380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126173281031911243502TC342685Likely_benignFamilial_hypercholesterolemia_1..0.234230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126183281041911243592GT332486Likely_benignFamilial_hypercholesterolemia_1..0.234230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126193281221911244187TTAT342698Likely_benignFamilial_hypercholesterolemia_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126205182831911319491GA508908BenignAdams-Oliver_syndrome_20.489530.538650.441691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126215182851911326119AG508910BenignAdams-Oliver_syndrome_20.57521.0.50081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126225182861911326125CT508911BenignAdams-Oliver_syndrome_20.527730.556470.452681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126235182871911327571CT508912BenignAdams-Oliver_syndrome_20.365920.403510.278360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126245182881911327608TC508913BenignAdams-Oliver_syndrome_20.68043.0.593451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126255182891911327626AG508914BenignAdams-Oliver_syndrome_20.663250.643570.579471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126265182901911332570TA508915BenignAdams-Oliver_syndrome_20.28553.0.31350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126272613591911358799GA256758BenignAdams-Oliver_syndrome_2|not_specified0.55240.64660.519570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126282613561911363146AT256759BenignAdams-Oliver_syndrome_2|not_specified0.607840.696640.591251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126292625671911541712TC257300Benignnot_specified0.936550.963420.912341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12630940781911558240TC99980BenignPolycystic_liver_disease_1|not_specified0.992310.99220.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12631940801911558340AGAGGAGA,AGAG99982Benignnot_specified...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
126326843801912760511TC670033Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126336843791912760664TC669713Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126346843781912762783TC669716Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126356843761912763432AC668607Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126366843751912766370GA669539Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126375588611912768391GA549786Benignnot_provided0.544050.531050.367811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126386843731912771823AG670038Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12639932071912772090CT99114BenignDeficiency_of_alpha-mannosidase|not_specified|...0.36983.0.24841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12640932181912772165GA99125BenignDeficiency_of_alpha-mannosidase|not_specified|...0.45356.0.327881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126416843721912772263TC669718Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12642932171912774208GC99124BenignDeficiency_of_alpha-mannosidase|not_specified|...0.318550.256650.239420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126436843711912774862GA669722Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126442600011912996740AG256779BenignCongenital_dyserythropoietic_anemia|not_specified0.270490.439210.444290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126452085041913010520AG205029BenignGlutaric_acidemia|Glutaric_aciduria,_type_10.638890.613020.720450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126466680521913319314CG669540Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126476680511913321122AC668613Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126483880181913322955GT379328Benign/Likely_benignHistory_of_neurodevelopmental_disorder|not_spe...0.00064..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126496781961913324818GA669548Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126506781951913324862CT669549Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126516680501913325733CT669747Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126526781931913335432GA668623Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126536687781913337966GA669756Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126546781821913345526GA668641Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126556781791913356150TG669789Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126566800631913386860CT668657Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126576800601913394337AG668658Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126586800591913395726CT669571Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126596800581913397945TC668661Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126606800571913410235GT669792Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126616800561913410379GA669579Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126622575101913411482GA256786Benignnot_specified0.645230.749090.739221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126636800551913418707CT670110Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126646680291913444874CT668686Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126656680281913444891CG670125Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126666781701913445144CT669844Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12667935591913445208CT99464BenignHistory_of_neurodevelopmental_disorder|not_spe...0.64370.685680.641170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126686680271913445573GA668687Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126696781691913446966TC669849Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126706781681913616693CT668704Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126711286191914038791CT134068BenignHistory_of_neurodevelopmental_disorder|not_spe...0.193520.210380.1250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126721567151914877799GC166575not_providednot_provided0.318750.22187.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126733283571915270583GA332715BenignCerebral_autosomal_dominant_arteriopathy_with_.....0.62381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126743283601915270665CT349437BenignCerebral_autosomal_dominant_arteriopathy_with_.....0.62381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126753283611915270805CA342885BenignCerebral_autosomal_dominant_arteriopathy_with_.....0.62341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126763283631915270910AG332719Likely_benignCerebral_autosomal_dominant_arteriopathy_with_.....0.010980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126772561521915271771GA256792BenignCerebral_autosomal_dominant_arteriopathy_with_...0.73490.759070.629391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126788110111915273248AC800100Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126792561451915273381AG256798BenignCerebral_autosomal_dominant_arteriopathy_with_...0.92327.0.869011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126808110101915276143CT800101Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126812561411915276919GA256802Benignnot_specified0.922190.871720.866611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126828110081915276923CT800102Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126832561401915278057AG256803BenignCerebral_autosomal_dominant_arteriopathy_with_...0.923650.874070.870011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126848110071915281386CA800103Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126852561381915285052TC256805BenignCerebral_autosomal_dominant_arteriopathy_with_...0.926140.881240.871811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126868110051915289613AT800107Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126878110061915290125GA800109Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126888110091915292366CT800112Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126892561301915292437TC256812BenignCerebral_autosomal_dominant_arteriopathy_with_...0.790490.801930.739021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126902561291915295134GA256813BenignCerebral_autosomal_dominant_arteriopathy_with_...0.566430.642740.519971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126912561201915299051GA256822Benign/Likely_benignCerebral_autosomal_dominant_arteriopathy_with_...0.015540.020720.003590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126922561181915300069TC256823BenignCerebral_autosomal_dominant_arteriopathy_with_...0.889050.857230.854231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126932561171915300136AG256824Benign/Likely_benignCerebral_autosomal_dominant_arteriopathy_with_...0.031520.025570.015180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126942561481915302844TC256825BenignCerebral_autosomal_dominant_arteriopathy_with_...0.889280.858120.855831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126953284411915651539GCCG348283BenignCongenital_ichthyosiform_erythroderma...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126963284521915662465TG342948BenignCongenital_ichthyosiform_erythroderma..0.830270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126973284541915662544CA348301BenignCongenital_ichthyosiform_erythroderma..0.512180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126983284581915662732CA349507BenignCongenital_ichthyosiform_erythroderma..0.415740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126997704601915905468TG704825Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127007704621915918500GA704830Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127012259691915990431CT227800drug_responsewarfarin_response_-_Other|acenocoumarol_respon...0.225430.272580.236820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127024965491916591464GA487993BenignFamilial_hypertrophic_cardiomyopathy_19|not_sp...0.65393.0.650560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127034965481916593573GA488044BenignFamilial_hypertrophic_cardiomyopathy_19|not_sp...0.169770.149150.144570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127044965471916601168GA487994BenignFamilial_hypertrophic_cardiomyopathy_19|not_pr...0.129560.122060.114020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127054965461916601194CT487995BenignFamilial_hypertrophic_cardiomyopathy_19|not_sp...0.6680.701450.658950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127066699421917450578CT668721Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127076725491917451599TC669873Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127081376011917952185GT141304Benignnot_specified|Severe_Combined_Immune_Deficiency0.118990.161580.113820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127092561991918001686GA256834Benign/Likely_benignThyroid_dyshormonogenesis_1|not_specified|Thyr...0.198520.17950.12461|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127103285481918004912TC349547Likely_benignThyroid_Hormonogenesis_Defect..0.151960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127113285721918170384GA343055BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_R...0.284850.309020.18630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127123285871918180413CG332869Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.27264.0.25160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127133285881918180451AG348404Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.293410.289420.268570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127143285961918186575GA348413Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.25404.0.229830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127153285971918186618TC343076Benign/Likely_benignDisseminated_atypical_mycobacterial_infection|...0.253190.277130.229430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127163285991918191664CG348415Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.094960.118540.129990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127174970791918272190AC488503Benignnot_specified.0.896060.923921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127188035461918273047TC791917BenignMegalencephaly-polymicrogyria-polydactyly-hydr......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127195182941918279638TC508919BenignMegalencephaly-polymicrogyria-polydactyly-hydr...0.851070.880.862421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127204683231918280096GA469943BenignMegalencephaly-polymicrogyria-polydactyly-hydr...0.036690.043590.019570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127212551211918895218GA256838Benignnot_specified0.292390.271950.198681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127222551191918895865CT256840Benign/Likely_benignPseudoachondroplastic_spondyloepiphyseal_dyspl...0.053130.049550.019570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127232551181918901618CG256843Benignnot_specified0.149430.12230.114420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127243286351919303185GA332938Likely_benignMHC_Class_II_Deficiency..0.06310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127253286421919307797CT332953Conflicting_interpretations_of_pathogenicitynot_specified|MHC_Class_II_Deficiency0.045590.052270.028750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127263286571930190101GT348470Likely_benignNeurodegeneration_with_brain_iron_accumulation_4..0.101240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127273286721930190522AAC349599BenignNeurodegeneration_with_brain_iron_accumulation_4.0.689350.664940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127283286741930190658AG332984BenignNeurodegeneration_with_brain_iron_accumulation_4.0.694130.68710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127293286921930191933AG333006BenignNeurodegeneration_with_brain_iron_accumulation_4.0.695970.709670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127303287061930192474CT349620Likely_benignNeurodegeneration_with_brain_iron_accumulation_4.0.136050.101440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127313287121930192599GT348512BenignNeurodegeneration_with_brain_iron_accumulation_4.0.554660.617610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127323287141930192738CT349622BenignNeurodegeneration_with_brain_iron_accumulation_4.0.676660.618610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127331285371930193721GA133985BenignNeurodegeneration_with_brain_iron_accumulation...0.752040.6670.613820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127343287401933321447AG333045Likely_benignCystinuria..0.174920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127353287471933333155GA333057Likely_benignCystinuria0.234510.205870.24820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127363287541933353041GA349637Likely_benignCystinuria0.329770.297280.278161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127373287551933353061GT333073Benign/Likely_benignCystinuria0.329690.297110.278161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127383287561933353357CT343180Likely_benignCystinuria0.104950.106410.072280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127393287591933353464GA333077Likely_benignCystinuria0.333690.30050.279951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127403287601933354992AG349639Likely_benignCystinuria0.112640.113020.080870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127413287611933355055AG343185Likely_benignCystinuria0.357140.309830.306111|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127423287621933355069AG348553Likely_benignCystinuria0.10526.0.072280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127433287631933355081GA333082Likely_benignCystinuria0.230740.194170.211461|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127443287741933360652AT333089BenignCystinuria..0.539741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127453287761933877912GGAAAGT343197BenignProlidase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127463287771933878039AG343199BenignProlidase_deficiency..0.281350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127473287811933878198AG348563BenignProlidase_deficiency0.29037.0.258390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127483287911933878837GA348567BenignProlidase_deficiency|not_specified0.290090.336560.278360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127493287991933882222GA343220BenignProlidase_deficiency|not_specified0.10570.148440.098440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127506838081935523119TA669637Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127516738761935524266CTC669657Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127521389981935524824TC142701Benignnot_specified|not_provided0.42140.426180.37760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127536838091935525253TC668731Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127546838111935525322AC669661Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127552595001936342212CT256879Benign/Likely_benignFinnish_congenital_nephrotic_syndrome|not_spec...0.2332.0.291930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127561931501936486445GC190315Benignnot_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127572270911936497358CG231000Benignnot_specified0.963940.927380.912741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127581379091936549690CT141612Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_2|not...0.15354.0.12560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127596702761936558113TC668738Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127606702771936562292GA668739Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127616708611936564653CT670181Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127626702781936574361AG668743Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127631602521936575645GA169493Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_2|not...0.15354.0.1250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127641602541936577550GA169494Benignnot_specified|not_provided0.065610.091450.056510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127656702801936581987TC670185Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127666675881936582668CG669682Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127671602651936584904CT169504Benignnot_specified|not_provided0.154390.178860.1250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127681602691936590329TC169508Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_2|not...0.673460.642560.654150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127696774661936590692GA669710Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127701603011936595436AC169537BenignPrimary_autosomal_recessive_microcephaly_2|not...0.749040.742790.716250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127717891191937368535GC716399Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127726771991938375666CT656528Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127736771981938376103AG656529Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127746771971938376485TA656530Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127756771961938377564TC656532Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127766771951938378539GC656535Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127776771941938379446CT656537Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127786771931938382328CT656538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127796771921938384421CG656540Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127806772351938573139GT656542Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127816772111938652993CT656547Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127821331311938924814TC136878Benignnot_provided..0.806911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12783932771938935280AG99184Benign/Likely_benignMalignant_hyperthermia_susceptibility|Myopathy...0.603030.60740.543331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127842565311938935350TTC256905Likely_benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127856807561938936836CT670195Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12786932431938939408TC99150BenignMalignant_hyperthermia_susceptibility|Myopathy...0.8952.0.903951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127871330081938939505TC136756Benignnot_provided0.982670.983240.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127886691611938942714GA669746Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127891330641938943728GA136812Benignnot_provided..0.572281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127906691641938945640AG668796Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127911330651938945851TC136813Benignnot_specified|not_provided0.892360.879950.901961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12792932581938946182GA99165BenignMalignant_hyperthermia_susceptibility|Myopathy...0.632090.636560.571291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127931331071938946215GC136854Benignnot_specified|not_provided0.63286.0.571891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127941331101938948356TC136857Benignnot_provided..0.583871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127956807571938949505CT670217Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127961331131938949729TG136860Benignnot_provided..0.555111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12797932591938949904CT99166BenignMalignant_hyperthermia_susceptibility|Myopathy...0.617020.621130.554111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127981331151938950947CT136862Benignnot_provided..0.553711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127996691711938953996AG668799Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12800932611938956803GA99168BenignMalignant_hyperthermia_susceptibility|Myopathy...0.597090.596190.545531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12801932841938990336CT99191BenignMalignant_hyperthermia_susceptibility|Myopathy...0.056750.071880.084460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12802932851938990345CT99192BenignMalignant_hyperthermia_susceptibility|Myopathy...0.09378.0.121810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12803932861938990676CA99193Benignnot_specified|not_provided0.056440.069450.084660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12804932891938991640CG99196BenignMalignant_hyperthermia_susceptibility|Myopathy...0.221050.222050.260380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12805932921938993372AG99199BenignMalignant_hyperthermia_susceptibility|Myopathy...0.313980.336580.421930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12806932941938993547CT99201BenignMalignant_hyperthermia_susceptibility|Myopathy...0.157850.182080.237820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128071332161938993638AG136963Benignnot_specified|not_provided0.331080.338990.428910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12808932961938994910GA99203BenignMalignant_hyperthermia_susceptibility|Myopathy...0.319550.32610.412340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128096692181938995152GA669807Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128106692201938995233AG669810Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128112565701938995355ACCTA257017Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12812932971938995438TC99204BenignMalignant_hyperthermia_susceptibility|Myopathy...0.319770.326430.415140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12813932981938995510TC99205BenignMalignant_hyperthermia_susceptibility|Myopathy...0.323620.329420.417130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12814932991938995975GA99206BenignMalignant_hyperthermia_susceptibility|Myopathy...0.308210.329410.405950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128151332241938996066AG136969Benignnot_specified|not_provided0.292570.339110.405950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128161332271938996620CT136972Benignnot_specified|not_provided0.288520.318550.405950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128171332281938996623TG136973Benignnot_specified|not_provided0.25741.0.405750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128181332291938996640AG136974Benignnot_provided..0.405950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128196692271938996821AC670245Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12820933001938996990TC99207BenignMalignant_hyperthermia_susceptibility|Myopathy...0.313620.326460.408150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128211332311938997076CT136976Benignnot_specified|not_provided0.309630.323530.406150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128221332331938997214TG136978Benignnot_specified|not_provided0.30878.0.406150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128235906171938997323TC581559Benignnot_specified|not_provided..0.406150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12824933021938997459GC99209BenignMalignant_hyperthermia_susceptibility|Myopathy...0.308630.324270.406150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12825933031938997609TA99210Benignnot_specified|not_provided0.307210.321950.404950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128261332351938997635AC136980Benignnot_specified|not_provided0.305340.320770.405950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128271332361938997679GT136981Benignnot_provided..0.405550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128286692471938997763CA668819Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128296807601938997896CT669815Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128302565761938998497GGC257022Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12831933061939002725AG99213BenignMalignant_hyperthermia_susceptibility|Myopathy...0.310860.32510.406950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12832932391939010023CT99146BenignMalignant_hyperthermia_susceptibility|Myopathy...0.037310.05620.029750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128331329981939017378TC136746Benignnot_provided..0.349840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12834932421939018280CT99149Benign/Likely_benignMalignant_hyperthermia_susceptibility|Myopathy...0.122870.072880.12420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128351330001939018728CG136748not_providednot_provided.0.331360.267970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128362563961939019222AG257045Benign/Likely_benignnot_specified|not_provided0.002460.004450.00141|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128376692531939028759TC668826Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128382564131939034322GA257060Benignnot_specified0.048820.050350.045530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128391330391939053691TC136787not_providednot_provided..0.405350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128406807981939055343CT669976Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12841932511939056291CT99158Benign/Likely_benignMalignant_hyperthermia_susceptibility|Myopathy....0.104510.032350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12842932531939061258CG99160BenignMalignant_hyperthermia_susceptibility|Myopathy...0.036910.046040.033550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128432564551939077253GT257097Benignnot_specified|not_provided0.061510.062440.027560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128442595821939196745CT257104BenignFocal_segmental_glomerulosclerosis_1|not_speci...0.392360.410490.339260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128455591111939307103CT549789Benignnot_provided0.082190.099180.075880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128465591151939322087TG549793Benignnot_provided0.450950.472710.365020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128473292071939406167CG349792Likely_benignHyperuricemia,_pulmonary_hypertension,_renal_f....0.444720.550720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128486836991939408086TC669847Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128493292121939408360AG348834BenignHyperuricemia,_pulmonary_hypertension,_renal_f...0.705210.706610.834671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128506836961939410119AG669850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128516836941939410986CG668849Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128526700371939413162CT668850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128533292271939421388AG348839BenignHyperuricemia,_pulmonary_hypertension,_renal_f...0.713810.712110.842051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128547694541939760435TC704975Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12855413791939994711TC49803BenignSyndactyly|Jarcho-Levin_syndrome|Spondylocosta...0.590110.568640.629990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128561300531940900865CT135499BenignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.953790.946920.965461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128571300521940901011GC135498Benign/Likely_benignCharcot-Marie-Tooth_disease,_demyelinating,_ty...0.13317.0.099240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128581300501940901496TC135496BenignCharcot-Marie-Tooth_disease,_demyelinating,_ty...0.366290.350440.296730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128591300491940901604AG135495BenignCharcot-Marie-Tooth_disease,_demyelinating,_ty...0.60910.507040.531951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128601300481940901614AG135494BenignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.609720.506850.531951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128611300511940904602GA135497Benign/Likely_benignCharcot-Marie-Tooth_disease,_demyelinating,_ty...0.134550.145470.102240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128626807221940913539CT668856Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128636785061941107205GC670267Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128646785071941107208AC670270Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128651639451941111069GA176729BenignCutis_laxa_with_severe_pulmonary,_gastrointest...0.519690.499420.524360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128666779851941112547GC670278Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128676836271941116166CG670279Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128681639461941117869AG176593BenignCutis_laxa_with_severe_pulmonary,_gastrointest...0.468960.447950.495210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128691787811941118056AG176731BenignCutis_laxa_with_severe_pulmonary,_gastrointest...0.46740.458980.495010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128701639471941119829CT176594Benign/Likely_benignCutis_laxa_with_severe_pulmonary,_gastrointest...0.0748.0.048120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128716836281941122496AG668872Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128726836231941124931CT668875Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128731787821941128309CT176026BenignCutis_laxa_with_severe_pulmonary,_gastrointest...0.370560.537670.417130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128741639501941129842CT176027BenignCutis_laxa_with_severe_pulmonary,_gastrointest...0.511840.438870.518770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128756786061941133870TC669888Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128763846991941135283GC377666Benignnot_specified0.15616.0.136780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128776832041941198482TC668881Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128783801011941206060GC376538Benignnot_specified|not_provided0.037910.033450.013180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128793799411941206208AG376545Benignnot_specified|not_provided0.579120.526020.537541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128803800451941220529CT376552Benignnot_specified|not_provided0.171460.151280.099240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128817689961941386420AC705005Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128822260021941512792CT227803drug_responseefavirenz_response_-_Metabolism/PK0.239430.335280.289140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12883296711941512841GT38626drug_responseEfavirenz_response|efavirenz_response_-_Dosage...0.2904.0.31570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128841201711941515263AG125779drug_responseEfavirenz_response|efavirenz_response_-_Metabo....0.05632.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128853756611941515702TC362510drug_responseefavirenz_response_-_Metabolism/PK..0.734821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12886125341941858921GA27573BenignBreast_cancer,_invasive,_susceptibility_to|Dia.....0.545331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12887393021941860296AG47908BenignDiaphyseal_dysplasia..0.631991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128882618791941860587CT257134Benign/Likely_benignMeckel-Gruber_syndrome|not_specified0.063590.063570.041330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128892618811941869392TC257138BenignMeckel-Gruber_syndrome|Meckel_syndrome,_type_1...0.724510.654960.649561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128906804891941903421AT670293Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12891933341941903699TG99241Likely_benignMaple_syrup_urine_disease|not_specified0.107180.11720.082471|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128926804901941904165CT669927Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12893933411941916549CA99248Benign/Likely_benignMaple_syrup_urine_disease|not_specified|not_pr...0.09803.0.055310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12894933571941919944AC99264BenignMaple_syrup_urine_disease|not_specified0.67610.598950.616011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128956761071941920211TC670294Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12896933821941928652CT99289BenignMaple_syrup_urine_disease|not_specified0.676070.599350.616411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12897933861941928701CT99293Benign/Likely_benignnot_specified|not_provided0.382440.37220.257390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12898933871941928724GA99294Benign/Likely_benignnot_specified0.643470.589560.585661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12899933891941928867GGC99296Benign/Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129006804911941929251TC670031Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12901933431941930396AG99250BenignMaple_syrup_urine_disease|not_specified0.6770.599970.617011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129024402441942364395TC433895Benignnot_specified..0.573280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129031389271942373298GA142630BenignDiamond-Blackfan_anemia|not_specified0.55468.0.558710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129043294001942471050GC349040BenignAlternating_hemiplegia_of_childhood|Dystonia_120.711680.637420.719450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129053294091942482076TA349042Likely_benignAlternating_hemiplegia_of_childhood|Dystonia_120.001770.003450.003790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129061579261942489516AC167773Benign/Likely_benignAlternating_hemiplegia_of_childhood|Dystonia_1...0.92973.0.901560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129077690111943420451GC705065Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129087690131943679410AG705071Likely_benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129097690141943699336TC705072Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129106838581944013260GA670042Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129116838561944030998CT668887Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129122603851944031324CT257139BenignEthylmalonic_encephalopathy|not_specified|not_...0.148910.190660.152360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129132259761944055726TC227806drug_responsePlatinum_compounds_response_-_Efficacy|cisplat...0.709210.68340.739620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129142572261945213752CT257140Benignnot_specified0.039140.045980.034941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129154391945322744AG15478BenignAUBERGER_BLOOD_GROUP_POLYMORPHISM_Au(a)/Au(b).0.275330.270371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129163294651945682026AC333754Likely_benignHermansky-Pudlak_syndrome..0.046530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129173294811945683448TA349968Likely_benignHermansky-Pudlak_syndrome..0.06290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129183294871945684109CT333794Likely_benignHermansky-Pudlak_syndrome..0.046530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129191341051945854919TG137844BenignOsteosarcoma|Non-small_cell_lung_cancer|Xerode...0.326.0.236620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129202560181945855524GA257142BenignXeroderma_pigmentosum|not_specified0.258730.285910.182310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129212560161945856468GC257143Benignnot_specified0.67846.0.634390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129221355291945865002CA139268not_providednot_specified.0.640190.632990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129231341171945867259CT137856BenignXeroderma_pigmentosum|Xeroderma_pigmentosum,_g...0.243850.378820.194490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129242560211945868309TG257148BenignXeroderma_pigmentosum|not_specified0.662540.589810.636180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129252560201945872036CT257149Benignnot_specified0.656870.595730.636180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129262259871945912736CA227807drug_responsecisplatin_response_-_Toxicity/ADR|Platinum_com...0.261240.323660.295130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129272259451945923653AG227808drug_responseXeroderma_pigmentosum|carboplatin_response_-_E...0.540060.508470.668931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129286691431945992381TC670052Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129296841301946000535TG670057Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129303295531946049687TC349092Likely_benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.012380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129313295561946049982AG349095Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.775361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129323295741946050760TC333835Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.637980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129333295941946051915TA333865Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.760980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129343295961946051919ATTTA349123Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129353296091946052454AG349142Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.758390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129363296101946052620TCAGGGT333868Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129373296171946052898CT333871Likely_benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.154550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129383296241946053385CT349153Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.760180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129393296311946053655GGGCT333881Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129403296471946054822CT333893Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.756790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129413296571946055477GGT343865Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129423296821946056620CT333923Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.710660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12943217091946057081AG34561Benign3-Methylglutaconic_aciduria_type_3|Optic_atrop...0.682560.707590.766970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129442629131946268902CT257151BenignBranchiootorenal_syndrome_2|not_specified0.343660.320550.298121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129456784531947109011TC669931Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129466784541947111663TC670058Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129471373811947251930CG141084Benignnot_specified..0.06050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129487743571947425424GT705107Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12949995921948337812CT105481BenignLeber_congenital_amaurosis|not_specified|Cone-...0.144010.14950.088461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129503297061948343531CAAGC343885BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129513297131948343803TC343896BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.242211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129523297141948343815GC333943BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.276161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129533297161948343903GA333950Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.069291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129543297171948343906CT349199BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.243011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129553297301948344190GC349205BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.276761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129563297331948344270CT343904Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.069491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129573297391948344513GA350127Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.069491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129583297411948344570GA343912BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.243211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129593297421948344679TA333976BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.570091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129603297441948344874GGA349209Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129613297481948345114TAT350128BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129623297531948345330CT349210BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.277561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129633297581948345407TC350143BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.56411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129643297611948345604CT350150Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.069491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129653297651948345783GC349215BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.230431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129663297681948345928CT333995BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.230231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129673297691948345941GT343926BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.230431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129683297771948346161TC349224BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.266971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129693297791948346241CT343931BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.213861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129703297811948346503CT334000BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.213861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129713297821948346509CG343933Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.069691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129723297831948346525TC349226BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.213861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129732624811948800218TC257160Benignnot_specified0.218730.216030.203080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129742624961948800338AG257162Benignnot_specified0.622560.57030.464661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129752624901948800791AG257168Benignnot_specified0.401330.359540.321490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129762624891948800914GA257169Benignnot_specified0.232350.288680.167531|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129772624851948801414GT257171Benignnot_specified0.17861.0.152160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129782624861948801426TC257172Benignnot_specified0.390130.326090.304310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129792625071948806977GA257179Benignnot_specified0.178840.183020.153360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129802625041948807367CA257181Benignnot_specified0.179380.183950.153950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129812625031948807401CT257182Benignnot_specified0.2433.0.168131|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12982129451949206674GA27984Benign,_associationSECRETOR/NONSECRETOR_POLYMORPHISM|Vitamin_b12_....0.389420.321690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129831564401949469087TC166213BenignHyperferritinemia_cataract_syndrome|Neuroferri...0.519530.497910.460660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129846761321949474027AT670066Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129856816761949481631AC670318Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129866761311949485758CT670329Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129872608341949661112GA257190Benign/Likely_benignnot_specified|Progressive_familial_heart_block.0.293750.150360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129886748281949661582TC669944Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129897805801949977929AG716597Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129904963161950140068CT487954Benignnot_provided0.696830.703450.738221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129914963151950140092GA487955Benignnot_provided0.696830.70340.738221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129921382011950321587AG141904Benignnot_specified0.011150.008690.010180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129931382001950339548GA141903Benignnot_specified|not_provided0.013690.009570.009980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12994954761950365370GA101375Conflicting_interpretations_of_pathogenicityEpileptic_encephalopathy|Early_infantile_epile...0.009230.007210.005390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129951598011950366042GA169592Benignnot_specified|not_provided0.015610.033670.041330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129966679411950370106TG668937Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12997954861950370404GA101385Benign/Likely_benignHistory_of_neurodevelopmental_disorder|Early_i...0.009.0.006590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129981298461950411742AG135292Likely_benignnot_specified0.947260.944420.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129991298491950412217CG135295Likely_benignnot_specified0.316250.351750.316290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130001298481950412417GA135294Likely_benignnot_specified0.807550.791860.860420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130011298471950412516CT135293Likely_benignnot_specified0.021990.012430.021771|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13002440731950720949GA53241Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.014340.009710.011180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13003440791950726570GA53247Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.493260.60570.472841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13004440441950735340CT53212Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.324620.358820.321491|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13005440511950755955CT53219Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.030270.040410.051120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13006440561950762418AG53224Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.73750.771940.761181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13007440571950763889CT53225Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.435450.447970.43911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13008440621950771609GA53230Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.531390.598040.484431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13009440631950771635TC53231Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.875260.875680.864621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13010440671950779469CT53235Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.186270.209660.131990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13011440751950796905GA53243Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.61460.747950.682110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130122575781950796960CT257195Benignnot_specified0.625660.749630.694490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130132267471950805138CT231073Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.79466.0.75080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130143299551950813169AC350291Likely_benignNonsyndromic_Hearing_Loss,_Dominant.0.369050.2480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130153299581950813263TG349293BenignNonsyndromic_Hearing_Loss,_Dominant..0.825081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130163802271950905762TC377725BenignHereditary_cancer-predisposing_syndrome|not_sp...0.126170.053190.138380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130176764831950909389TG670373Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130186765461950909405GA668946Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130196797961950911847CA670018Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130206765501950916571AG670382Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130213802281950916772TC377776BenignHereditary_cancer-predisposing_syndrome|Colore...0.109260.044960.118410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130223802211950918969AG377792Benignnot_specified|not_provided0.209370.26590.282150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130232587881950919797CT257197Benignnot_specified|not_provided0.581030.579340.408350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130246765511950920100TC670026Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130253802291950920410CT379661Benignnot_specified|not_provided0.093530.076380.108431|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130263719331950920536AG359002Benign/Likely_benignColorectal_cancer_10|not_specified|not_provided0.115140.056890.128591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130276765521950920558CT670028Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130285608221950921074AACCCTGC551952Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130292595641951411636GT257199Benignnot_specified0.9970.996170.99841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130306801191951848824AG670032Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130316801181951848834AG670384Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130326801111951849927GC670385Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13033940181951850290GA99920BenignGlutaric_aciduria,_type_2|not_specified|not_pr...0.541830.498030.419731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130346801101951850485TC668951Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130356838511951850597TC670041Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130366838491951853288CG670387Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130376801081951853352AG670392Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130386801061951853872GA668952Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130393692891951883149TG353518Likely_benignCortical_pulverulent_cataract..0.643970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130407733601951919998TC705210Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130414028741952249211TG390308Benignnot_specified0.796940.804480.787141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130424028771952249702GT390462Benignnot_specified0.28910.328540.351040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130434028781952249947CG390432Benignnot_specified0.34323.0.393771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130444028791952250216AG390319Benignnot_specified0.772490.805330.834070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130454036251952803669CTGC390465Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130467694641953770261TC705230Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130477699861953848779TC705231Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130487699881953848837CT705233Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130493299881954296978ACA350305BenignFamilial_cold_autoinflammatory_syndrome..0.427521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130502625311954307322GA257201BenignFamilial_cold_autoinflammatory_syndrome|not_sp...0.48601.0.426720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130514032421954308554CT390434Benignnot_specified0.854910.847390.806311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130522625281954327313CA257206BenignFamilial_cold_autoinflammatory_syndrome|not_sp...0.26680.229440.255590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130533300521954327568AT350336BenignFamilial_cold_autoinflammatory_syndrome..0.781350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130541300371954385820CT135483BenignSpinocerebellar_ataxia_14|not_specified|Spinoc...0.882290.946290.896371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130551300361954394965TC135482BenignSpinocerebellar_ataxia_14|not_specified|Spinoc...0.34607.0.329470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130563300631954395098GT334232BenignSpinocerebellar_ataxia_14|Spinocerebellar_Atax...0.351610.396690.333670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130571675371954632423TC177983Benignnot_specified|Retinitis_Pigmentosa,_Dominant0.82555.0.75320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13058977931955438831GT103685not_providedHydatidiform_mole,_recurrent,_1..0.591850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13059977921955438850AG103684not_providedHydatidiform_mole,_recurrent,_1..0.592650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13060977941955438940AAAACA103686not_providedHydatidiform_mole,_recurrent,_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13061977771955439371AG103669not_providedHydatidiform_mole,_recurrent,_1..0.592650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13062977781955439455GT103670not_providedHydatidiform_mole,_recurrent,_1..0.592850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13063977791955439472TC103671not_providedHydatidiform_mole,_recurrent,_1..0.592850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13064977821955439537CA103674not_providedHydatidiform_mole,_recurrent,_1..0.593250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13065977831955439542TC103675not_providedHydatidiform_mole,_recurrent,_1..0.593250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13066977841955439545GA103676not_providedHydatidiform_mole,_recurrent,_1..0.594850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13067977851955439639AG103677not_providedHydatidiform_mole,_recurrent,_1..0.592650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13068977881955439821GT103680not_providedHydatidiform_mole,_recurrent,_1..0.416930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13069977891955439838AG103681not_providedHydatidiform_mole,_recurrent,_1..0.592650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13070977741955440357GA103666not_providedHydatidiform_mole,_recurrent,_1..0.592450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13071977691955441643CT103661not_providedHydatidiform_mole,_recurrent,_1..0.590660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13072977671955441741AG103659not_providedHydatidiform_mole,_recurrent,_1..0.590060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13073977661955441744CT103658not_providedHydatidiform_mole,_recurrent,_1..0.590060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130743301561955441902TC334316Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.544290.58190.590060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130753301581955441995AG344252Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.544130.581540.590450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13076977641955442280AC103656not_providedHydatidiform_mole,_recurrent,_1..0.576680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13077977651955442398CA103657not_providedHydatidiform_mole,_recurrent,_1..0.672920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13078977631955443424AG103655not_providedHydatidiform_mole,_recurrent,_1..0.739420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13079977521955447501GA103644not_providedHydatidiform_mole,_recurrent,_1..0.161340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13080977421955448961GA103634not_providedHydatidiform_mole,_recurrent,_1..0.677921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13081977381955449099GC103630not_providedHydatidiform_mole,_recurrent,_1..0.410541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13082977281955449755GA103620not_providedHydatidiform_mole,_recurrent,_1..0.678511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130832871061955450746CT271343Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.11748.0.090850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130843301721955451050CT349382Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.1728.0.180711|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130853301761955451232CT334358Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.29540.240980.288940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130863301831955451797CT334365Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.388740.340430.355431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13087978941955453134GA103786BenignHydatidiform_mole,_recurrent,_1.0.42120.405551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13088978951955453418GA103787not_providedHydatidiform_mole,_recurrent,_1..0.193690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13089978961955453511CT103788not_providedHydatidiform_mole,_recurrent,_1..0.180710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13090979001955458801GA103792not_providedHydatidiform_mole,_recurrent,_1.0.052520.069290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130917185781955495031GA728399Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130922574161955525497AG257209Benignnot_specified0.80570.768980.726640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130932574131955525596TC257212Benignnot_specified0.734140.808320.716650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130942574111955525894GA257214Benignnot_specified0.733710.790380.717650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130952574281955526345TG257216Benignnot_specified0.797660.846710.823080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130962574271955526359AT257217Benignnot_specified0.744910.79980.724840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130972574261955526373GC257218Benignnot_specified0.487510.54250.384590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130982574241955527081CT257220Benignnot_specified0.730950.789450.713460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130992574231955530035CT257221Benignnot_specified0.76618.0.743610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131002574221955536595GA257222Benignnot_specified0.825040.81390.842650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131012574211955538980TC257223Benignnot_specified0.8801.0.907150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131022574191955539061AG257225Benignnot_specified0.750240.792930.732430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131032574181955539072TG257226Benignnot_specified0.81792.0.842650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131041677361955644325AC178100Benignnot_specified0.999850.989160.980431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13105318631955658088GA40523Benign/Likely_benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.104820.234610.06430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13106318641955660499AG40524not_providednot_provided.0.205730.198280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13107318551955660537TC40515Benign/Likely_benignHypertrophic_cardiomyopathy|Familial_restricti....0.831460.81010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13108368811955665584AC45542Conflicting_interpretations_of_pathogenicityCardiomyopathy|Primary_ciliary_dyskinesia|Prim....0.9999711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13109433661955667647CA52536Benign/Likely_benignCardiomyopathy|Hypertrophic_cardiomyopathy|Pri...0.036820.046150.022760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131103692961955671337CT353525Likely_benignHypertrophic_cardiomyopathy|Familial_restricti....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131117690511955790886AAGCCGCCGCC705259Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131127694651955895588GA705264Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131137708121955912946TG705266Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131147690561956739747CG705276Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131157132371957325940AT728424Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131163302241957742472GC344295BenignSpermatogenic_Failure..0.867611|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131173302251957742489CT349406BenignSpermatogenic_Failure|not_specified.0.762470.767771|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131187690591958004931AG705290Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131197699891958421080GT705298Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131202863431959023166GA270580Benignnot_specified0.171590.243540.161740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131212863421959023174AG270579Benignnot_specified0.171130.253030.161540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1312240258620126310ACCA390451Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1312326223020741847AG257429Benignnot_specified|not_provided0.702260.702160.655351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1312426223820744450GA257434Benignnot_specified0.375210.431170.308710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1312526222820746423GTATCTGCCCG257443Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13126337814201959939GA344725BenignSpinocerebellar_Ataxia,_Dominant..0.512981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13127337819201960198AG344729BenignSpinocerebellar_Ataxia,_Dominant..0.513781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13128337822201960313AG344733Likely_benignSpinocerebellar_Ataxia,_Dominant..0.095250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13129337834201961134AG334872BenignSpinocerebellar_ataxia_23|Spinocerebellar_Atax...0.173.0.130190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13130337846201974858TC350714BenignSpinocerebellar_Ataxia,_Dominant..0.6281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13131130585202375262AG136031BenignSpinocerebellar_ataxia_35|not_specified|Spinoc...0.937260.90710.8780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13132337914202380396GA344788BenignSpinocerebellar_ataxia_35|Spinocerebellar_Atax...0.616990.661650.574081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13133337920202384151GA344790Likely_benignSpinocerebellar_Ataxia,_Dominant0.075890.09170.129990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13134130584202398017GA136030BenignSpinocerebellar_ataxia_35|not_specified|Spinoc...0.271570.234510.324480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13135791662202413125CCCT,TT779964Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13136337941202413320TC350769BenignSpinocerebellar_Ataxia,_Dominant0.436570.417530.513180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13137129807202633936TC135253Likely_benignnot_specified0.83431.0.861221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13138129806202637071TC135252Likely_benignnot_specified0.650850.633630.673721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13139129808202638579TC135254Likely_benignnot_specified0.358440.309840.3770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13140129809202638882TC135255Likely_benignnot_specified0.338930.293120.37740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13141338028202644407CG344895BenignRetinitis_Pigmentosa,_Recessive0.653310.686530.613021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13142771047203026345AAGCCCC705420Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1314314747203193893AC29786drug_responseazathioprine_response_-_Toxicity/ADR|Inosine_t...0.11180.088630.059110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13144261999203209083GA257339Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.176.0.159150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13145261998203209371GA257340Benignnot_specified0.394010.447680.494210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13146261997203210301GA257341Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.09380.09160.048520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13147261996203211235CT257342Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.09080.085130.045130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13148261994203211304GA257343Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.10118.0.047920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13149262002203214581CT257345Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.186220.15740.166330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13150262001203214819TG257346Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.48093.0.479830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13151338263203218355CG344973Likely_benignCorneal_Dystrophy,_Recessive0.43165.0.450280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13152193506203870079TA190670BenignPigmentary_pallidal_degeneration|not_specified...0.045450.121720.086861/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1315396526203870124GC102420BenignPigmentary_pallidal_degeneration|not_specified...0.93669.0.879190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1315413397204680251AG28436BenignAlzheimer_disease,_early-onset,_susceptibility....0.307780.266570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13155338858205283256CG345515BenignHypogonadism_with_anosmia|Kallmann_syndrome_3|...0.735050.743520.723241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13156338859205283376GA345516BenignHypogonadism_with_anosmia|Kallmann_syndrome_3|...0.409270.398020.446491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13157339170206055696GGT351325Uncertain_significanceKindler's_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13158339178206056042TTA351333BenignKindler's_syndrome..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13159260868206064710AG257380BenignKindler's_syndrome|not_specified0.359680.36830.395770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13160339209206064731CT336173BenignKindler's_syndrome0.153160.102360.116410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13161339213206065729CTTTTC345924Uncertain_significanceKindler's_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13162339224206088265GA350337Likely_benignKindler's_syndrome0.063740.070910.051121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13163339230206093177AG351350Likely_benignKindler's_syndrome0.104030.083180.083071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13164339234206096632GA351354Likely_benignKindler's_syndrome0.108410.084810.088261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13165260864206100088AG257384BenignKindler's_syndrome|not_specified0.532370.524280.524561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13166260863206100230AC257385BenignKindler's_syndrome|not_specified0.599190.635580.708471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13167339257206104048CG350349BenignKindler's_syndrome..0.426920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13168339259206104068CT336223BenignKindler's_syndrome..0.704071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13169195136206751034AG192297Benignnot_specified0.708260.672310.746010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13170196322206759115AT193483BenignSHORT_STATURE,_FACIAL_DYSMORPHISM,_AND_SKELETA...0.729310.674320.766770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13171126883207885184CG132395associationCalcium_oxalate_urolithiasis..0.325280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13172126886207899928TC132398associationCalcium_oxalate_urolithiasis..0.31050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13173126888207909166GA132400associationCalcium_oxalate_urolithiasis..0.303910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13174126889207912942CG132401associationCalcium_oxalate_urolithiasis..0.299120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13175129899208130943CT135345Benign/Likely_benignSeizures|not_specified|Early_Infantile_Epilept...0.192790.168530.18710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13176129901208696907TG135347Benign/Likely_benignSeizures|not_specified|Early_Infantile_Epilept...0.077810.121640.134980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13177129908208737734GA135354Benign/Likely_benignSeizures|Early_infantile_epileptic_encephalopa...0.251880.271770.212260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13178129910208755243TC135356BenignSeizures|Early_infantile_epileptic_encephalopa...0.640240.61550.613220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13179129912208769180CT135358BenignEarly_infantile_epileptic_encephalopathy_12|no...0.891440.940790.896971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13180129914208770822CT135360BenignSeizures|Early_infantile_epileptic_encephalopa...0.253350.296950.228630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13181339539208864177TC350478BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto.....0.804511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13182339540208864203AG351533BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto.....0.609431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13183339544208864448AACTTA351538Likely_benignEarly_Infantile_Epileptic_Encephalopathy,_Auto......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13184339548208865006CT336462BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto.....0.535941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13185339552209288522GA350485BenignAuriculocondylar_syndrome_2|Auriculocondylar_s...0.516540.596540.471451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131865427312010234257GA533432Benignnot_provided..0.49780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131872610602010393145CG257305Benignnot_specified0.24719.0.265380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131883377152010618574TC344656BenignArteriohepatic_dysplasia|Isolated_Nonsyndromic.....0.474240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131893377232010619014AC344672BenignArteriohepatic_dysplasia|Isolated_Nonsyndromic.....0.221650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131903377292010619289CCA349651BenignArteriohepatic_dysplasia|Isolated_Nonsyndromic......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131913377352010619659TAT344686BenignArteriohepatic_dysplasia|Isolated_Nonsyndromic......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13192424782010620275GA51648BenignArteriohepatic_dysplasia|not_specified|Cardiov...0.228130.238290.180110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131931375952010620386AG141298BenignArteriohepatic_dysplasia|not_specified|Cardiov...0.72720.659190.712660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131942555552010622080CAC257308Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131951430632010633237GA152781BenignArteriohepatic_dysplasia|not_specified|Cardiov...0.424650.454080.423320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131962135242010639385AG210341BenignArteriohepatic_dysplasia|not_specified|Isolate...0.424040.437540.457670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131975365362010639543GA534015Likely_benignAlagille_syndrome_1..0.513780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131986834252013773572CG670439Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131996694682013778878CG670197Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132001296942013782194CT135140Benignnot_specified|not_provided0.014920.01890.010580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132016834292013789247AG669030Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132022576162017474791GA257325Benignnot_specified|not_provided0.276490.246290.205870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132032576152017474968TC257326Benignnot_specified|not_provided0.74012.0.75061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132042576172017479617GA257329Benignnot_specified|not_provided0.056820.05640.022560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132053800412017950545AT379676Benignnot_specified|not_provided0.110870.104070.085260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132066842562017968548GA670201Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132072622492017968923TC257331Benignnot_specified|not_provided0.26549.0.31190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132086842582017969211CT670141Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132093377812018488399CG350687BenignCongenital_dyserythropoietic_anemia..0.771971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13210953792018511456AG101278BenignCongenital_dyserythropoietic_anemia|not_specified0.916490.974730.916331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132116839962019867042CT669034Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132126791152019915678CG669036Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132133847132019955473CT377963Likely_benignnot_specified0.016530.014490.004590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132143378522023026496CT334892BenignAtypical_hemolytic_uremic_syndrome..0.775961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132153378622023027413TG344766BenignAtypical_hemolytic_uremic_syndrome..0.167130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132163378642023027621TC334901BenignAtypical_hemolytic_uremic_syndrome..0.302121|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132173378832023028724GA334922BenignAtypical_hemolytic_uremic_syndrome0.137880.199690.164540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13218127182023030015CT27757Conflicting_interpretations_of_pathogenicityAtypical_hemolytic-uremic_syndrome_6|Atypical_....0.003430.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1321956352023618427CT20674Conflicting_interpretations_of_pathogenicityAge-related_macular_degeneration_11.0.254890.212260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132204025692023618571TG390477Benignnot_specified..0.211660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132213379482025056401TC349766Likely_benignPosterior_Polymorphous_Corneal_Dystrophy..0.022160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132223379842025281159CCTC350785Likely_benignPolyneuropathy,_hearing_loss,_ataxia,_retiniti.....0.103830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132231282552025288632GA133704BenignPolyneuropathy,_hearing_loss,_ataxia,_retiniti...0.434650.469640.336061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132243379992025371378GGGCCTCCGCC335074BenignPolyneuropathy,_hearing_loss,_ataxia,_retiniti......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132253380042025371559CT349784BenignPolyneuropathy,_hearing_loss,_ataxia,_retiniti.....0.456271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132261384052030407213TC142108Benign/Likely_benignHypertrophic_cardiomyopathy|not_specified..0.053910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132276785212030408580TC670158Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13228366542030412101CT45316BenignCardiomyopathy|Familial_hypertrophic_cardiomyo...0.014380.011370.005990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132291917412030419929GA190018Uncertain_significanceFamilial_hypertrophic_cardiomyopathy_1|not_pro...0.000152e-05.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132306835802030795819TC656627Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132311335992031022959TC137338not_providednot_specified0.999920.9999811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132323381132031024274TC349835BenignC-like_syndrome|not_specified0.320080.418330.405750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132333381202031025163AG345017BenignC-like_syndrome0.305170.406510.399960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132343381232031025231TC345023BenignC-like_syndrome..0.399760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132353381262031025535AG335208BenignC-like_syndrome..0.428910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132363381652031383353TG345058BenignImmunodeficiency-centromeric_instability-facia...0.402890.483560.584861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132373381702031386347TC345062BenignImmunodeficiency-centromeric_instability-facia...0.579120.580580.755791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132383381712031386449TC335243BenignImmunodeficiency-centromeric_instability-facia...0.577730.579220.755791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132393381752031387954CG335245BenignImmunodeficiency-centromeric_instability-facia...0.53398.0.714061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132403381802031388636TC349870BenignImmunodeficiency-centromeric_instability-facia...0.562130.573720.742611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132413381972031396536AG350898BenignImmunodeficiency-centromeric_instability-facia.....0.804711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132423382012031397019ATA345089BenignImmunodeficiency-centromeric_instability-facia......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132436709512032000351AG670166Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132446838672032026350CG669066Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132453382862032891200GT349903BenignHypermethioninemia..0.677121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132462554742033533736AC257352Benignnot_specified|not_provided0.70537.0.664340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132475108732033581955GA507152Benignnot_specified0.356140.432460.396770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132482567162034022387AC257356BenignBrachydactyly|Acromesomelic_Dysplasia|Symphala...0.36906.0.383990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132492567122034025756AG257358BenignBrachydactyly|Acromesomelic_Dysplasia|Symphala...0.582520.474350.56110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1325083902034025983AG23429BenignBrachydactyly|Osteoarthritis_of_hip|Acromesome.....0.546530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132516714532034285442CT669101Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132527084752034526853CT728625Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132536836872035865054CT656633Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132547708152036784246CT778680Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132554024302036932660CT390390Benignnot_specified0.427420.506180.431310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132564024312036932676GC390456Benignnot_specified0.430030.507620.43470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132574024332036940314CT390457Benignnot_specified0.043130.057290.051320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132584024342036946848GA390480Benignnot_specified0.495310.462370.43510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132593383932039315589CCT335418BenignMulticentric_osteolysis_nephropathy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132607756482040074369CT705487Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132617756492040161684CT778598Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132627756502040161979TA705488Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132636835452042814688GT669103Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132646711132042814931TC669121Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132651376022042815190GA141305BenignFamilial_hypertrophic_cardiomyopathy_17|not_sp...0.866290.844950.854230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132666769062043042130CG670492Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132676769072043042580CG670262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132686769082043042950AC670209Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132696743632043043051CG670264Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132706743642043043095GA670271Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132716768792043047293AG669133Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132726768812043048685AG670495Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132736768822043052570TC670274Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132746768842043058018TC669135Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132756768862043058096CG670497Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132763384482043059211AC335470Likely_benignMaturity_onset_diabetes_mellitus_in_young|Hype.....0.571291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132774023402043264927CT390343Benignnot_specified0.984620.995540.982231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132784441172043882833GA437771BenignDiabetes_mellitus_type_2..0.161541|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132794441162043948221AC437780BenignDiabetes_mellitus_type_2..0.24860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132804441202043953076TG437781BenignDiabetes_mellitus_type_2..0.417331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132814441122043953319CAGC437782BenignDiabetes_mellitus_type_2...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132824441062043957510GA437783BenignDiabetes_mellitus_type_2..0.295930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132834441112043958755GA437784BenignDiabetes_mellitus_type_2..0.803711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132844441132043964288TC437785BenignDiabetes_mellitus_type_2..0.495010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132853385132044519643GA351036BenignCombined_deficiency_of_sialidase_AND_beta_gala...0.360910.582370.384190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132863385202044519793AC351042Likely_benignCombined_deficiency_of_sialidase_AND_beta_gala.....0.015580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132876836332044522594AG670283Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132886836342044522953CT670506Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132895588672044523442TCT549810Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132903385352044523547GA345347BenignCombined_deficiency_of_sialidase_AND_beta_gala...0.634940.660180.678320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132913385382044523782CT351057BenignCombined_deficiency_of_sialidase_AND_beta_gala...0.636630.660760.679910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132926719902044526783GA670285Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13293136342044548193CT28673associationHigh_density_lipoprotein_cholesterol_level_qua.....0.31430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132941308102044596207CG136255Likely_benignnot_specified0.92450.84930.777761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132951308072044596545GA136252Benignnot_specified0.333740.331290.18570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132961307952044599839GC136240Likely_benignnot_specified0.954230.893840.859821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132973385462044637624CT350025Likely_benignMetaphyseal_anadysplasia0.016840.034960.032750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132983385542044640959GA351068BenignMetaphyseal_anadysplasia0.471470.436080.260580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132992820932044642406GC266330BenignMetaphyseal_anadysplasia|Metaphyseal_anadyspla...0.91996.0.830271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133002853632044642833AC269600BenignMetaphyseal_anadysplasia|not_specified0.599580.470760.405951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133013385622044645010CT350030BenignMetaphyseal_anadysplasia0.473090.43290.259380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133023385632044645153TC345359BenignMetaphyseal_anadysplasia..0.163740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133034756562044664491CA470904BenignEarly_infantile_epileptic_encephalopathy_340.018070.035320.032150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133044756582044665946TC470416BenignEarly_infantile_epileptic_encephalopathy_340.018070.035610.033150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133054756402044671880CT469378BenignEarly_infantile_epileptic_encephalopathy_340.017990.035150.032950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133064756442044676727TA471417BenignEarly_infantile_epileptic_encephalopathy_340.02130.04540.030950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133073385692044746982TC350035BenignImmunodeficiency_with_hyper_IgM_type_3|not_spe...0.803010.752730.771170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133083385762044757524CG335608Benign/Likely_benignImmunodeficiency_with_hyper_IgM_type_3|not_spe...0.006610.017060.015970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133093386242045363813GA351090Uncertain_significanceArterial_tortuosity_syndrome..0.003790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133106679952047639991AG670247Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133112612632050405502CG257369Benignnot_specified|SALL4-Related_Spectrum_Disorders0.09765.0.049721|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133122612602050407162TC257372Benignnot_specified|SALL4-Related_Spectrum_Disorders0.302090.357830.381990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133132612592050407502AC257373BenignDuane-radial_ray_syndrome|not_specified|SALL4-...0.2781.0.358830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133142612582050407966CT257374Benignnot_specified|SALL4-Related_Spectrum_Disorders0.335230.252250.209271|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133152612642050408482AG257377Benignnot_specified|SALL4-Related_Spectrum_Disorders0.995620.996510.99741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133163387892052770054CCAT351180BenignInfantile_hypercalcemia..0.610621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133173387972052770596GC335826BenignInfantile_hypercalcemia..0.216651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133183388102052771261GA351190BenignInfantile_hypercalcemia..0.18871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133193388312052786219GA350152BenignInfantile_hypercalcemia|Idiopathic_hypercalcem...0.52430.492360.458071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133206675642055803149CT670253Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133216675632055803687CT669189Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133223388682056136536AG345596BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.44795.0.396971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133233388752056137798GA351214BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.412730.378830.295131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133243388762056137807AG351217BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.449640.41110.31331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133253388772056137834AG335894BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.449560.414470.31411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133263388792056137895GC351218BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.90120.846260.846051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133273388822056138621AG345601Likely_benignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.098720.092570.057710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133283388892056139403TC345602BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.802250.754740.786940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133293388982056140980TG351230BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici.....0.424321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133302595372057009796CT257378Benignnot_specified0.414580.416750.416930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133313389472057020573AG335929BenignAmyotrophic_Lateral_Sclerosis,_Dominant|Spinal....0.2220.180310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133323389742057022712GTGTGTGCAG350203BenignAmyotrophic_Lateral_Sclerosis,_Dominant|Spinal......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133333390052057024541TC350221BenignAmyotrophic_Lateral_Sclerosis,_Dominant|Spinal....0.427190.483230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133343390062057024589CT350223BenignAmyotrophic_Lateral_Sclerosis,_Dominant|Spinal....0.254690.209070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133353390502057244493GA336021BenignPseudohypoaldosteronism_type_1_autosomal_dominant0.516390.502070.474440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133363390812057253132AG345794BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.539340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133373390872057253275CT350266BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.204470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133383390892057253404GA351305BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.392970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133391976812057478807CT194842Benignnot_specified0.579430.547330.644370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133401364622057607260GA140165Benignnot_specified0.001330.003310.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133415060812060864390CT497338Benignnot_specified0.402570.468350.424721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133422584132061467800AG257414Benignnot_specified0.140470.188820.223040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133432584152061467898GC257416BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.912460.919830.933310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133442584172061468571TC257418BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.76440.686950.709860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133453393182061472386AG346001BenignMultiple_Epiphyseal_Dysplasia,_Dominant..0.245611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133463393202061472440CT351403BenignMultiple_Epiphyseal_Dysplasia,_Dominant..0.243011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133476680932061978524TC670560Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13348934282061981104CT99335BenignSeizures|Nicotine_addiction,_protection_agains...0.409430.474980.351841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13349934272061981134GA99334BenignSeizures|Nicotine_addiction,_protection_agains...0.40831.0.323481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13350934252061981536AG99332BenignSeizures|Epilepsy,_nocturnal_frontal_lobe,_typ...0.857140.935750.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13351934242061981554CA99331BenignSeizures|Epilepsy,_nocturnal_frontal_lobe,_typ...0.75139.0.733831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133521287502061982085AG134199BenignSeizures|not_specified|not_provided0.84330.919550.863621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133531287492061982124AG134198BenignSeizures|not_specified|not_provided0.766950.835280.757191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133546680922061982692CT670287Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133556707592061990874TC670577Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133566798952061991301AC669204Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133576798942061992285AC670584Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13358217792062038277TG34631BenignSeizures|Benign_familial_neonatal_seizures_1|K...0.59870.637240.590450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133594987852062046496CCGACAGACA490209Benignnot_specified...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133606750612062055417GA669223Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133616820492062059505GA670375Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133626820472062065420CT669227Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133636820462062065460GA670315Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133646820452062070301CT670376Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133656707642062076743CA670390Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133666837262062076988TC670322Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133676689252062078487TC669249Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133686800182062119875TC670338Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133696800172062122211GT670597Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133703796892062126185AG379761BenignSeizures|not_specified|not_provided0.573940.570980.591650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133713807792062126299CT378443BenignSeizures|not_specified|not_provided0.099140.135380.140180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133726681292062126745GA669259Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133736800092062128735TC670349Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133744964892062305274GA488061Benignnot_provided0.250650.249110.293730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133754964882062309554CT487850Benignnot_provided0.694530.664820.611621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133764033982062320968TC390347Benignnot_specified|not_provided0.827760.748630.718251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133774034002062321655GA390350Benignnot_specified|not_provided0.808170.741080.696091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133784034012062322288TC390482Benignnot_specified|not_provided0.83530.765290.718051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133794034022062326110AC390459Benignnot_specified|not_provided0.823240.754730.736821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133804034042062328375AG390461BenignDyskeratosis_congenita,_autosomal_recessive,_5...0.942220.93840.965461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133813754822062421622AG362292associationChronic_osteomyelitis0.169230.175040.265180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133826792972062559964GA669275Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133833394152062565833CT351455BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.276160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133847700042062571417AGGAG,A778592Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
133853394632062612675GA351479Likely_benignRetinitis_Pigmentosa,_Dominant0.076610.207440.094850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133863394832062659937CT336423Likely_benignRetinitis_Pigmentosa,_Dominant0.147780.131830.158550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133873394922062664365CT350449Likely_benignRetinitis_Pigmentosa,_Dominant0.118560.13320.072680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133887745332116337111GA705627Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133897820672116338259AG717163Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133905867622134003928AAAGTATT577888Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133915867602134014283CA577890Benignnot_provided0.286940.288480.291330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133925867582134059352TC577892Benignnot_provided0.297610.293390.304110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1339372882134614250TC22327risk_factorHepatitis_b_virus,_susceptibility_to.0.105390.118610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133947754422134625037CG705659Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133954029702134634878GA390483Benignnot_specified.0.430070.43530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133963396982134668747AG351592BenignInflammatory_bowel_disease.0.636160.568490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133973397092134669381GA346315BenignInflammatory_bowel_disease..0.56510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133984029632134799350CG390403Benignnot_specified0.752190.764220.842251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133993397162135736384GA346324Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Familial.....0.106630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134003397212135819014GA336618BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....0.676120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134013397222135819063TC346327BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....0.451280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134023397322135819536AG351613BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134033397462135819995GGC336627BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134043397512135820324TC336636BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....0.493610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134053397642135821087GA336663BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....0.448080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134063397692135821419TC346347BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....0.412140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134071326512135821821TC136399BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn...0.661930.647710.673920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134086718962135822111AG670353Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134096756062135822270TC669293Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134101379762135831815AC141679Benignnot_specified..0.993811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134112581802136164405GT257452BenignFamilial_platelet_disorder_with_associated_mye....0.600310.370611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134122581862136206932GA257457BenignFamilial_platelet_disorder_with_associated_mye....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13413440882137833307CT53256Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.223130.168240.135380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13414440842137833751GA53252Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.276260.216090.19010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134153399152138123404AAAT350652BenignHolocarboxylase_synthetase_deficiency..0.352440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134162560332138126507TC257460Likely_benignHolocarboxylase_synthetase_deficiency|not_spec...0.020250.027750.023560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134176761392138128707GA670612Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134182560352138132172CT257461Benignnot_specified|not_provided0.42565.0.382991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134192560342138139632CA257463Benignnot_specified0.575430.563250.62760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13420929152138302543CAC98822Benign/Likely_benignHolocarboxylase_synthetase_deficiency|not_spec......1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134212560372138302769CT257464Benignnot_specified0.540140.58630.55970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134226806002138308552CT670360Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134231375522138362470AG141255BenignHolocarboxylase_synthetase_deficiency|not_spec.....0.260980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134243399822138362498GA351758BenignHolocarboxylase_synthetase_deficiency..0.254990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134256798432138791156AG670422Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134262040082138853058TTA200401PathogenicInborn_genetic_diseases|Mental_retardation,_au......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134276813262138858938GA670625Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134286793642138865507CG670431Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134296689112138868111AT670629Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134303399902143160015CT350694BenignPopliteal_pterygium_syndrome..0.417331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134313399922143160214AACT346491BenignPopliteal_pterygium_syndrome..0.431711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134323399992143160438TC350704BenignPopliteal_pterygium_syndrome..0.43791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134333400062143160908AG351774BenignPopliteal_pterygium_syndrome..0.769171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134342613512143161022CT257465BenignPopliteal_pterygium_syndrome|not_specified0.387110.453120.445491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134352613502143161357TC257466BenignPopliteal_pterygium_syndrome|not_specified0.980160.965190.956871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134362613492143161805GA257467BenignPopliteal_pterygium_syndrome|not_specified0.514380.601980.530951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134372613482143161877CT257468BenignPopliteal_pterygium_syndrome|not_specified0.398820.443370.44011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134382613472143162150GA257469BenignPopliteal_pterygium_syndrome|not_specified0.395490.451740.44011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134392613462143164232CA257470BenignPopliteal_pterygium_syndrome|not_specified0.362910.412580.384191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13440460892143792869CT55254Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.163080.23580.268970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13441461292143803167TC55294Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.160160.162680.241211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13442461212143805656TC55286Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.582120.487730.618411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134436722352144476759AG669323Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134446833122144478000TC670378Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134456687322144480283GA669335Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134466784562144483773GA670447Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134472560102144589215CT257472BenignCongenital_cataract|not_specified|not_provided0.64370.54040.50/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134483401122144592875GA336903Likely_benignCongenital_cataract..0.106630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134495865862144837551GA577895BenignSeizures|not_provided0.724140.800050.725441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134505865852144837555GA577896BenignSeizures|Epileptic_encephalopathy,_early_infan...0.845470.890010.830671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134515865882144846016CT577899BenignSeizures|not_provided0.186870.281270.166530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134524958552145705952CT487965Benign/Likely_benignnot_provided0.000820.00221.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134531283382145708277CT133787Benignnot_specified0.186790.207990.133191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134548036332145712357ACA792010BenignPolyglandular_autoimmune_syndrome,_type_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134551283362145712977TC133785Benignnot_specified0.39350.377990.356230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134561283372145717550TC133786Benignnot_specified0.494380.461070.530351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134573401342146306161CT351837Likely_benignLeukocyte_adhesion_deficiency..0.158350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134581007522146306472CG106617not_providedLeukocyte_adhesion_deficiency_type_1..0.194290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134593401552146311813AG346638BenignLeukocyte_adhesion_deficiency|not_specified0.750150.688830.762981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134601007462146313442GT106611BenignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.240890.230670.199081|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134611007452146314907TA106610BenignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.999850.9999411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134621007652146315022CT106630not_providedLeukocyte_adhesion_deficiency_type_10.25350.235050.207270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134631007612146320313CT106626BenignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.216210.242850.223040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134641007562146321659CA106621Likely_benignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.18099.0.139180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134653401722146323273GA350811Benign/Likely_benignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.035450.023430.047120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134663779812146327026CA378485Benignnot_specified0.068670.074610.108830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134678036342146328099TC792011BenignLeukocyte_adhesion_deficiency_type_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134681007532146330674CA106618BenignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.217160.22850.213060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134695183202146875564TC508935BenignKnobloch_syndrome_1|not_provided0.969330.97050.988420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134702619192146876083AG257481Benignnot_specified0.382930.343740.37560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134712618852146893767AG257482Benignnot_specified0.222050.200540.2480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134723402142146897893TTC351873Likely_benignKnobloch_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134732618902146899947GA257487Benignnot_specified0.19232.0.170530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134742618922146901973AC257489Benignnot_specified0.229780.226480.208270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134752618952146908355TC257492BenignKnobloch_syndrome_1|not_specified0.31287.0.319890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134768036352146911299GGC792012BenignKnobloch_syndrome_1...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134773402402146913153GT336991Likely_benignKnobloch_syndrome_10.024490.027190.011980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134781575882146957794TC167450Uncertain_significanceGastrointestinal_stroma_tumor0.509320.576970.488620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134796711072147402227GGC670465Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13480938732147404397AG99775BenignCollagen_VI-related_myopathy|not_specified0.863180.864430.880391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13481938762147406421GA99778Benignnot_specified0.186430.184680.112421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13482938792147406612CA99781BenignCollagen_VI-related_myopathy|not_specified.0.72150.695891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134836791772147409113CT670412Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134846791782147409239GC670417Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13485938912147409503AG99793Benignnot_specified0.862940.861820.87681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13486938972147409580CA99799BenignCollagen_VI-related_myopathy|not_specified0.178990.182460.094051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13487937932147410373AG99695Benignnot_specified...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13488938002147410386CT99702Benignnot_specified..0.00221|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134896791802147410626TG670469Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13490938052147410931TC99707BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.623940.531470.544931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134916803112147412511GA669369Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13492938112147412751AC99713Benignnot_specified|not_provided0.879040.858920.871411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134936799392147413929GT670667Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134946799402147417206AG669370Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13495938132147417303TC99715Benignnot_specified|not_provided0.472780.537540.511581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13496938152147417415CA99717Benignnot_specified0.54237.0.610020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13497938162147417432AAG99718Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13498938172147417578AG99719Benignnot_specified|not_provided0.358360.341210.287141|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13499938222147417975AG99724Benignnot_specified|not_provided0.88207.0.883391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135006803142147418234GC670423Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135016799452147418564TC669373Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13502938262147419012CT99728Benignnot_specified|not_provided0.34181.0.289340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135036799482147419277GT670668Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135046799472147419697CT670669Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135056799492147419747AG670671Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135066791852147420016GA669397Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135076791862147420418CT670680Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13508938312147420723GC99733Benignnot_specified|not_provided0.336080.283870.265971/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13509938322147420726CG99734Benignnot_specified|not_provided0.86668.0.830271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13510938342147420761GA99736Benignnot_specified|not_provided0.50197.0.559511/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13511938352147420769AG99737Benignnot_specified|not_provided0.86049.0.867411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135126791922147420866CT669411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135136791952147420971AG669417Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13514938502147422412CT99752Benignnot_specified|not_provided0.482550.562020.551320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135156792012147423133CG670685Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13516938612147423389GA99763BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.339610.288830.270170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13517938642147423507GA99766BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.337260.285930.268171|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13518938652147423509CT99767BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.161870.16260.108830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13519938702147423636CT99772BenignCollagen_VI-related_myopathy|not_specified0.327130.271490.264180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135203403422147424346AG350905BenignCollagen_VI-related_myopathy..0.881991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135216792042147531215CT670436Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13522939552147532440CT99857BenignMyosclerosis|Collagen_VI-related_myopathy|not_...0.09475.0.095050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135236792052147532544CT670443Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135246792072147535536TG670444Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13525939632147536546CT99865Benignnot_specified0.424640.492150.397560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13526939002147537882GA99802Benignnot_specified|not_provided0.463410.53090.451480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135276792122147538050GA670455Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135286792132147538071GA670458Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135296792062147538310AT669446Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13530939032147538960GA99805BenignMyosclerosis|Collagen_VI-related_myopathy|not_...0.72923.0.705271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13531939052147539790AG99807Benignnot_specified|not_provided0.822670.766840.80971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135326724682147540036GA669449Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135336716892147540050CT670698Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135346792152147540186CT669451Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135356792172147540200CT670501Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135366792092147540231AC670502Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135376792182147540260CT670709Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135386792222147540725GA670710Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135396792102147541744AG670712Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135406792242147542220CT670715Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13541939142147542861AG99816BenignMyosclerosis|Collagen_VI-related_myopathy|not_...0.860870.812210.847441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135426681052147544308TC670474Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13543939162147544541CG99818Benignnot_specified|not_provided0.41401..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13544939192147544769AG99821Benign/Likely_benignnot_specified|not_provided0.093420.083680.075680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13545939222147545155AG99824Benignnot_specified|not_provided0.803320.798490.795131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13546939292147545768GA99831BenignMyosclerosis|Bethlem_myopathy_1|Collagen_VI-re...0.412960.47840.393970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13547939302147545823GA99832BenignMyosclerosis|Collagen_VI-related_myopathy|not_...0.412730.475510.394170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13548939312147545826CT99833BenignMyosclerosis|Collagen_VI-related_myopathy|not_...0.412580.475510.393970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135496792262147546244TC669469Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135506792192147549613CT670494Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135516792282147549629TA670511Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13552939402147551833CT99842Benignnot_specified|not_provided0.531890.535870.483831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13553939482147552209GA99850Benign/Likely_benignGLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|Myos...0.08140.092440.067290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135543403932147552527GA350939Likely_benignGLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|Myos.....0.039940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13555954242147558473GC101323BenignGLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|not_...0.471330.51390.481030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135566771752147614469AC656675Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135576772212147635176TC656676Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135586771742147635627CG656677Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135596771732147635713GA670517Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135606771722147639492CG670522Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135616772202147641794CT656678Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135626772192147642609GA656679Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135634030752147685939AG390367Benignnot_specified0.474010.451470.421730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135647186932147704253GC728978Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135654036132147704896GA390484Benignnot_specified0.331460.324120.24860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135664024422147721985AATGG390504Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135673404552147744037CGC351957BenignMicrocephalic_Osteodysplastic_Primordial_Dwarfism...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13568953412147766139TC101240BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.689070.64080.675120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135696677972147766232AC670527Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135701596532147766650GA169621BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.32027.0.299920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135716688702147771056CT670727Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135721595662147773103CA169626BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.29825.0.289540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135736677962147776706GA669479Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135741595692147777063GA169629BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.893820.855920.848641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135756677982147777222AG670498Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135761595722147783796TC169631BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.894870.854810.847051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135776677992147784060TC670503Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135781595732147786449TA169632Benignnot_specified|not_provided0.89119.0.806511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135791595742147786494CT169633BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.688560.748680.657751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135801595792147786817CG169638BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.881750.852750.838861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135811595812147787002TC169640BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.883050.8530.837661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135821595972147811272CT169654Benignnot_specified|Microcephalic_Osteodysplastic_Pr...0.287940.365760.301520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135836678042147816953GA670736Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135846739792147818298TC670743Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135856678052147821726GA669484Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135866675432147830843TC670510Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135871596422147836653CT169690BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.225270.281090.24960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135886678062147847852TC670748Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135891596682147850405CT169714BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.705570.665310.669130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135901596702147850484GC169716BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.484080.577430.488220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135911596712147851753AG169717BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.691840.639680.669930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135926688712147855509GA670529Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135931596852147856106CA169731Benignnot_specified|not_provided0.298210.359460.31270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135941596922147860764TC169737Benign/Likely_benignnot_specified|Microcephalic_Osteodysplastic_Pr...0.1590.127720.105830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135956678012147862188TC670534Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135966678032147862624AG670516Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135977186942148081808GA728990Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135983405572217565932TC346957BenignFamilial_Candidiasis,_Recessive.0.794120.774961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135993405612217565974GC351009Benignnot_specified|Familial_Candidiasis,_Recessive.0.806570.774761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136003405852217586471CT352040BenignImmunodeficiency_51|not_specified|Familial_Can...0.814550.811490.832270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136013405922217589246GA351025BenignFamilial_Candidiasis,_Recessive0.15870.115330.121410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136023406142217590744TC351038BenignFamilial_Candidiasis,_Recessive0.232960.239560.279950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136033406222217591089GA351041BenignFamilial_Candidiasis,_Recessive..0.731030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136043406242217591144CT351044BenignFamilial_Candidiasis,_Recessive..0.539740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136053406322217591697GA351047BenignFamilial_Candidiasis,_Recessive..0.555510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136063406452217592396GA347016Uncertain_significanceFamilial_Candidiasis,_Recessive..0.004190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136073406702217593685GA347027BenignFamilial_Candidiasis,_Recessive..0.836660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136083407062217594886TC352116BenignFamilial_Candidiasis,_Recessive..0.487420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136093407072217594915GA337411BenignFamilial_Candidiasis,_Recessive..0.486420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136103407102217595070TG337414BenignFamilial_Candidiasis,_Recessive..0.486020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136113407302217596178TC337449BenignFamilial_Candidiasis,_Recessive..0.618610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136123407322217596229TC347061BenignFamilial_Candidiasis,_Recessive..0.197090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136133407362217596388GC351104BenignFamilial_Candidiasis,_Recessive..0.836860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136144025262217662699AG390468Benignnot_specified0.298860.256830.18731|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136154025272217662793AG390370Benignnot_specified0.302090.256470.191891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136164025282217662917GC390485Benignnot_specified0.29225.0.18631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136174025292217690409GA390469Benignnot_specified0.449560.43410.31130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136183407492218560825AG352137Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.058310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136193407612218571008GA347074BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.61330.422720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136203407722218571670AG352140BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.995811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136213407802218571828TC352142BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.87341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136223407862218572106TA351137BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.423120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136233407882218572371CCTTGG347084BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136243407952218572499TTCTCA351141BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136253408032218572892AG347095BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.87341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136263408072218573122TC351144BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.996011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136271272672218900750GA132724Uncertain_significancenot_provided0.75880.7890.763381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136283847432219752609CT377376Benign/Likely_benignnot_specified|not_provided0.000620.000910.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136292633692219868218AG259118Benignnot_specified|Cardiovascular_phenotype0.79610.701240.718250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136306786472219882630GA670774Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136312634112219882984TG259130Benignnot_specified|Cardiovascular_phenotype0.270880.187880.25120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136323847182219885548GT378611Benignnot_specified0.242790.242140.242210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136336786462219886797GA670531Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136346780392219898837AG670535Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136356786392219902896CT670540Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136366780902219905802GA670779Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136376840492219906096CT670782Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136386780852219906256GA670554Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136396786382219906306CG670565Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136402634092219906511GA259140Benignnot_specified|Cardiovascular_phenotype0.211310.146270.168130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136412633432219907099CA259137Benignnot_specified|Cardiovascular_phenotype0.295570.444490.483031/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136422633702219907118GA259134Benignnot_specified|Cardiovascular_phenotype0.453770.564880.596841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136436786372219907192AG670556Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136446786602219907346TC669526Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136452259502219929027CT227810drug_responseSelective_serotonin_reuptake_inhibitors_respon.....0.077280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136466786402219929551AG670792Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136472567852219950235CT257574Benignnot_specified0.460090.467970.371610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136482567862219951207CG257575Benignnot_specified0.327540.339170.296930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13649175912219951271GA32630drug_responseCATECHOL-O-METHYLTRANSFERASE_POLYMORPHISM|meth....0.472750.369210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136502567842219956262GGC257576Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136516841372220024174AG670569Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136526721452220031102GA669544Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136536841392220049340TC670568Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136546841472220049454AG670799Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136555183242220779768GC508939BenignMarden_Walker_like_syndrome0.65390.581410.534551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136565183252220779822GC508940BenignMarden_Walker_like_syndrome0.28769.0.242211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136573408262221213380CT352170BenignCerebral_dysgenesis,_neuropathy,_ichthyosis,_a...0.481990.547280.463861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136583408302221213416AG337552BenignCerebral_dysgenesis,_neuropathy,_ichthyosis,_a...0.416550.535810.403551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136593408742221244235GGT352211Uncertain_significanceCerebral_dysgenesis,_neuropathy,_ichthyosis,_a......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136605613992221336501GC553053Benignnot_provided..0.989421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136615614092221337266GA553057Benignnot_provided0.372140.42030.357431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136625615292221342169GC553062Benignnot_provided..0.551121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136635618402221342811CT553064Benignnot_provided..0.457870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136645614262221344055AG553071Likely_benignnot_provided..0.052320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136655614102221344592AC553073Benignnot_provided..0.428710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136665614112221344884CT553076Benignnot_provided..0.18750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136675614122221344905AG553077Benignnot_provided..0.712061|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136685614132221344920GC553078Benignnot_provided..0.413740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136695616642221345000CT553080Likely_benignnot_provided..0.053510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136705619312221345613GC553081Likely_benignnot_provided..0.054910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136715615822221346277CT553086Benignnot_provided..0.18570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136723794132221346485TC378633Benignnot_provided0.73120.707030.643970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136735614142221346719AC553088Benignnot_provided..0.591651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136745614272221347029GA553089Likely_benignnot_provided..0.053710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136755616672221347349GA553092Likely_benignnot_provided..0.052720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136765616682221347410GT553094Likely_benignnot_provided..0.052120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136775618412221347505CT553095Benignnot_provided..0.850441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136785614152221348084TC553097Benignnot_provided0.779890.753410.743011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136795614282221348101GA553098Likely_benignnot_provided..0.050921/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136805614182221349037AG553102Benignnot_provided0.80308.0.75221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136815616692221349480AG553106Likely_benignnot_provided..0.051720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136825614192221350461AG553111Benignnot_provided..0.754391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136835614212221350936GA553113Benignnot_provided0.316390.291280.208670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136847691532223652503TC778692Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136853799532224108412GA378642BenignSpinal_muscular_atrophy,_jokela_type|not_speci...0.80501.0.729831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136863799522224109550TC378643Benignnot_specified0.923850.878880.871011|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136873799512224109774TG377411Benignnot_specified.0.821710.87581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136886840972224129005TG670574Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136896840982224134394TC669573Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136901333922224143502CG137131not_providednot_specified.0.793940.711661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136916770982224145727CT670805Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136926771022224159307AT670813Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136938036462224717850AG792021BenignHypertelorism,_Teebi_type...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136948036472224761467GA792022BenignHypertelorism,_Teebi_type...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136952259742224825511CT227811drug_responsecaffeine_response_-_Toxicity/ADR..0.400560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136961001542224891292CG106031BenignDeficiency_of_beta-ureidopropionase|not_provided..0.532750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136973409472225597331TC347213BenignCongenital_nuclear_cataract|not_provided0.61164.0.654951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136982592292225601196CG257578BenignCongenital_nuclear_cataract|not_specified|not_...0.575430.655760.664141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136993409652226847586GT351236BenignHermansky-Pudlak_syndrome..0.855831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137001636702226853905CA176369BenignHermansky-Pudlak_syndrome|not_specified0.868520.881930.827281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137012615332226853980TC257585Benignnot_specified0.888310.901620.852841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137021636712226854441GA176247BenignHermansky-Pudlak_syndrome|not_specified0.868910.881770.827481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137031636722226859942CT176370BenignHermansky-Pudlak_syndrome|not_specified0.82047.0.793131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137041636732226860269GC176248BenignHermansky-Pudlak_syndrome|not_specified0.378060.382920.354231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137052615382226861545AG257588Benignnot_specified0.839230.867420.818491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137062615372226862153CA257589Benignnot_specified.0.84870.790741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137071636742226862212TC176371BenignHermansky-Pudlak_syndrome|not_specified0.820540.848680.793131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137083410282226877981GA352322BenignHermansky-Pudlak_syndrome..0.789541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137093410292226878024AG337688BenignHermansky-Pudlak_syndrome..0.866811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137103410332226879691TC347260Likely_benignHermansky-Pudlak_syndrome..0.06490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137113410402226879823CA347269BenignHermansky-Pudlak_syndrome.0.83130.789541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137126771632227019128CT669609Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137136676372227021189AG669612Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137146772312227021401GA669615Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137152584862227021425AG257592Benignnot_specified|not_provided0.571280.514920.588260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137162584872227021457TC257593Benignnot_specified|not_provided0.873370.892650.923721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137176740082227024504CT670609Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137187231082228379016CT742837Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137195222772229885567AAAAGTCCCCTGAGAAGGCC512967BenignAmyotrophic_lateral_sclerosis_type_1|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13720667432229886413AG77640BenignAmyotrophic_lateral_sclerosis_type_1|not_provided0.800860.818980.850441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137216837992229999236GC670593Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137223410652229999784CA337721BenignNeurofibromatosis,_type_2|not_provided..0.351840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137233410662229999878GC352335BenignNeurofibromatosis,_type_2..0.870211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137246769852230034994GT670831Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137256769862230054024GA670626Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137266769872230056945GA670628Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137276769882230057574AG670596Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137286769892230064117CT669628Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137296838032230064731AG669630Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137308036762230077361GA792051BenignNeurofibromatosis,_type_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137316769912230079213TC670599Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137323411312230092813GGT351324BenignNeurofibromatosis,_type_2...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137333411492230093259CG347385BenignNeurofibromatosis,_type_2..0.262980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137343411572230093667TC352370BenignNeurofibromatosis,_type_2..0.265380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137353693752231003069CT353604Likely_benignTranscobalamin_II_deficiency..0.105031|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137363411832231003138AG352382BenignTranscobalamin_II_deficiency..0.554510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13737972231011610GC15136BenignTRANSCOBALAMIN_II_POLYMORPHISM|Transcobalamin_.....0.579670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation/97
137383412192231022635CT347426Likely_benignTranscobalamin_II_deficiency..0.067490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137392576612232266603AG257607BenignSeizures|Epilepsy,_familial_focal,_with_variab...0.023570.021730.020370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137403412752232506906CT352408BenignCongenital_glucose-galactose_malabsorption..0.588260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137413412962232508457AG351413BenignCongenital_glucose-galactose_malabsorption..0.963661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137423412992232870769CT352418BenignParkinson_Disease,_Recessive..0.538340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137431952752232875190GA192436BenignParkinson_disease_15|not_specified|Parkinson_D...0.372290.440030.487420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137443413142232887150CT347523BenignParkinson_disease_15|Parkinson_Disease,_Recessive0.372210.439950.487620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137453413282233197074AG352436BenignPseudoinflammatory_fundus_dystrophy..0.341850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137462559432233253280TC257609BenignPseudoinflammatory_fundus_dystrophy|not_specified0.612720.551810.650960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137473413742233257163GGA337929Uncertain_significancePseudoinflammatory_fundus_dystrophy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137486830572233733995CT669642Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137496830172233960676AG670859Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137506830042234000230TC670621Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137516840502234157814TC670896Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137526666142236661842GA654927Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137533414692236677914AG338008BenignMYH9-related_disorder|Nonsyndromic_Hearing_Los.....0.178120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137543414752236678118CT338013BenignMYH9-related_disorder|Nonsyndromic_Hearing_Los.....0.220250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13755389672236684354TC47570BenignMacrothrombocytopenia_and_granulocyte_inclusio...0.155540.258410.294130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13756445652236684358CA53732BenignMYH9-related_disorder|not_specified|Nonsyndrom...0.155160.258150.293730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137572587452236690113GA257631Benignnot_specified0.633420.591650.485620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13758445592236691607AC53726BenignMYH9-related_disorder|not_specified|Nonsyndrom...0.97124.0.982631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137592587302236708049CTCCTGTGAC257646Benignnot_specified|not_provided.0.262820.301121/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13760445512236708084CT53718BenignMYH9-related_disorder|not_specified|Nonsyndrom...0.75550.871390.760781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13761445502236710183TC53717BenignMYH9-related_disorder|not_specified|Nonsyndrom...0.534680.561420.393570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137621982012237267767AG195362Benignnot_specified0.632780.703320.6271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137632603082237271882TC257666BenignChronic_granulomatous_disease|Granulomatous_di...0.870060.833730.828081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137642627262237462926GA257669BenignMicrocytic_anemia|not_specified0.390050.365450.356031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137652627252237462936AG257670BenignMicrocytic_anemia|not_specified0.65862.0.604631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137662627242237465385CTGGGGC257671BenignMicrocytic_anemia|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137672627222237469591GA257672BenignMicrocytic_anemia|not_specified0.604880.539020.543531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137682627192237480797CT257675BenignMicrocytic_anemia|not_specified0.348410.382670.31291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137692627282237485724TC257676BenignMicrocytic_anemia|not_specified0.396170.397930.390381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137703416062237499692AG352542BenignMicrocytic_anemia..0.284740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137713693792237499699CT353608BenignMicrocytic_anemia..0.317290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137721388642237622815AG142567Benignnot_specified0.225320.170260.24740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13773144722237972628GA29511risk_factorMyocardial_infarction...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137745081102238119213GA508413Benignnot_specified0.543730.569660.526561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137751984472238119754TCAAT195608BenignDeafness,_autosomal_recessive_28|not_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137765081112238121152CA507585Benignnot_specified0.346410.392480.336260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137775167662238122122TC508147Benignnot_specified0.35010.393390.336660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137782868302238122448CT271067Benignnot_specified0.341940.442060.336660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137792868312238122462AG271068Benignnot_specified0.631050.74120.601040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13780438512238129332GA53020Benignnot_specified0.350260.389790.337260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13781438552238130472TC53024Benignnot_specified0.964740.96530.982631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137822572252238161835TTG257683Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137833416142238369027CT352544BenignPeripheral_demyelinating_neuropathy,_central_d.....0.608431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137842270812238369976AG231226BenignPeripheral_demyelinating_neuropathy,_central_d...0.695830.653680.713261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137856708822240757228AC670672Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137866781022240759308AG669684Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137873417132241325068GA347823BenignNephronophthisis-Like_Nephropathy..0.594651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13788937322241537234GT99635BenignRubinstein-Taybi_syndrome_1|not_specified.0.989180.961661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13789937362241548008AG99639BenignRubinstein-Taybi_syndrome_1|not_specified0.205830.295930.223440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13790937382241551039TA99641BenignRubinstein-Taybi_syndrome_1|not_specified0.583120.657250.673921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13791937412241566595CT99644Benignnot_specified0.228130.301080.24840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13792937422241569609CT99645Benignnot_specified0.258150.308470.264180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137931585552241574969TGTAT169838BenignRubinstein-Taybi_syndrome_1|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137941282562241903813AC133705Benignnot_specified|not_provided0.257960.321050.418330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137951282572241911525CT133706Benignnot_specified|not_provided0.383750.399270.270370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137966780962241913844AG670674Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137971362632241914593CT139966Benignnot_specified0.323930.337110.484430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137986831132241914860TG669696Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137996780972241916001CG669698Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138006831422241921665AG670678Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138016780982241923644GA670682Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138023418852242454354GA351725BenignKanzaki_disease|Schindler_disease,_type_1..0.647561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138033418912242454950AG351735BenignKanzaki_disease|Schindler_disease,_type_1..0.459470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138041980622242461918GA195223BenignKanzaki_disease|Schindler_disease,_type_1|not_...0.23220.171380.168130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138056826452242463366CT670696Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138066826442242463689TC670919Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138071962422242463814CT193403BenignKanzaki_disease|Schindler_disease,_type_1|not_...0.642550.67280.676921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138083419172242466509CG352623BenignKanzaki_disease|Schindler_disease,_type_1|not_.....0.642371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138096842922242466905CT670700Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138106826432242466950CT670651Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138116826422242466980AT669700Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138125168892242522613GC508193Likely_benignnot_specified0.408320.455560.401160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138135168902242523943AG508196Likely_benignnot_specified0.599550.656660.640781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13814168892242524947CT31928drug_responseDebrisoquine,_poor_metabolism_of|not_specified...0.151050.170760.093050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13815168932242526694GA31932Likely_benign,_otherDebrisoquine,_poor_metabolism_of|not_specified....0.246690.238020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138164035772243447891CT390488Benignnot_specified0.03575.0.015580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138174035792243455531CT390421Benignnot_specified0.232660.260670.148160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138184035802243459846GA390425Benignnot_specified0.233350.248090.148560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138193419432244342116AG348026Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Dis...0.680380.677810.787741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138203419492244342325CT348031Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Dis.....0.246610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138213419542244342941TTAA338402Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Dis......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138223419562244343009TA348034Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Dis.....0.164940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138233419702245683042CT348048Uncertain_significanceRenal_hypodysplasia/aplasia_18e-050.000140.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138243419742245683246CT338422Benign/Likely_benignRenal_hypodysplasia/aplasia_10.611870.697090.548120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138253419772245683304GC338423Benign/Likely_benignRenal_hypodysplasia/aplasia_10.789140.778820.774360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1382612902246731689GT16329BenignDeafness,_mitochondrial,_modifier_of|Liver_fai....0.19670.105631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138276716982246748310TC670657Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138286764322246752080GC670714Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138293420282246753179GA348087BenignLiver_failure_acute_infantile..0.193291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138303420322250297034CCTC338484Likely_benignCongenital_disorder_of_glycosylation.0.114070.066490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138313420382250297435TC351793BenignCongenital_disorder_of_glycosylation0.380930.27490.402160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13832960952250297888TC101989Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.091340.112150.091650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13833961022250301476TC101996BenignCongenital_disorder_of_glycosylation|not_speci...0.383360.270370.402160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138342616882250302850AG257696Benignnot_specified0.382820.270440.401960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138352616872250303515AC257697Benignnot_specified0.25465.0.265380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13836960982250303530TC101992Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.254880.223720.265580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13837960992250303533CG101993Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.254880.223790.265580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13838960962250307184GT101990Benignnot_specified0.079350.093490.070290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138393420662250311973AG351806Likely_benignCongenital_disorder_of_glycosylation..0.25120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138403420672250311989AACA338526Likely_benignCongenital_disorder_of_glycosylation...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138413420682250312035CT352662Likely_benignCongenital_disorder_of_glycosylation..0.244810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138427708202250315936CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGC778490Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138432624562250499964TC257699BenignMegalencephalic_leukoencephalopathy_with_subco...0.229240.297420.282951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138442605732250518723AG257708Benignnot_specified0.9460.951450.973641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138453421192250524250GGC348156BenignMegalencephalic_leukoencephalopathy_with_subco......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138465183272250658053AG508942BenignMicrocephaly_and_chorioretinopathy,_autosomal_...0.959480.965960.982431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138475183292250664612AG508944BenignMicrocephaly_and_chorioretinopathy,_autosomal_...0.824390.791190.858831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138482588812250885775AG257710Benignnot_specified0.523320.51760.5010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138491390872250962078GT142790Conflicting_interpretations_of_pathogenicityHepatic_failure,_early-onset,_and_neurologic_d...0.008610.005840.00180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138501390862250962208TG142789BenignHepatic_failure,_early-onset,_and_neurologic_d...0.635090.638350.655550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138511390822250962782CG142785BenignHepatic_failure,_early-onset,_and_neurologic_d...0.63069.0.651560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138521390812250963905CT142784BenignHepatic_failure,_early-onset,_and_neurologic_d.....0.142970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138533421302250963965CG351827BenignHepatic_failure,_early-onset,_and_neurologic_d.....0.533951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138541306932250964236GA136139BenignMitochondrial_DNA_depletion_syndrome_1_(MNGIE_...0.06836.0.142770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138551378782250964255CT141581Benign/Likely_benignMitochondrial_DNA_depletion_syndrome_1_(MNGIE_...0.037840.054540.023761|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138561306942250964862GA136140BenignHepatic_failure,_early-onset,_and_neurologic_d...0.630480.672130.532950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138576716182250966914TC670728Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138586702622250967269AG669706Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138591287292251020668CA134178Benignnot_specified|Congenital_Muscular_Dystrophy,_C...0.56940.700720.703280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138606680852251021579AC669723Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138616680842251021599CT669726Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138623422052251062222GC348215BenignMetachromatic_leukodystrophy..0.476240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138633422142251062654TC352699BenignMetachromatic_leukodystrophy..0.834860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138643422162251062718CT351896BenignMetachromatic_leukodystrophy..0.349040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138653422212251062891CG348232BenignMetachromatic_leukodystrophy..0.351040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138663422272251063233AT351906Likely_benignMetachromatic_leukodystrophy..0.113621|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13867931182251063987GC99025Benignnot_specified|not_provided0.749920.797690.819090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13868211842251064039GC34036BenignMetachromatic_leukodystrophy|not_specified|not...0.484080.484310.405550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138696720542251066921GA670684Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138704034312251117580TC390489BenignHistory_of_neurodevelopmental_disorder|not_spe...0.479980.511550.343251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138714023352251182485AG390377Benignnot_specified|not_provided.0.661270.638380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1387293092X591926TG98999Benignnot_specified|not_provided0.96725.0.958681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13873265860X605654AAAG260560Uncertain_significanceShort_stature,_idiopathic,_X-linked..0.122120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13874178717X1422868GA178252Benignnot_specified0.379830.37150.326620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13875379979X2748253GC380029Benignnot_specified0.926510.957680.918681.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13876684112X2748421GA670773Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13877684114X2772398TG670781Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13878684117X2772792CT669917Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13879684124X2777560AG671107Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13880379982X2777985CT379223Benignnot_specified0.607710.701640.578281.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13881684126X2778322GA669922Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13882684129X2778433CG670885Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13883684131X2779330TC671108Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13884379983X2779570AG378170Benignnot_specified0.59180.667820.575361.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13885157730X2852951GA167578Benignnot_specified|not_provided0.458090.625980.565831.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13886157728X2856155CT167576BenignChondrodysplasia_punctata_1,_X-linked_recessiv...0.492230.65930.574571.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13887667510X2861459GC669926Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13888674716X2877835GA671112Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13889769169X3228653GC706214Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1389095987X5821786GA101883BenignHistory_of_neurodevelopmental_disorder|not_spe...0.142760.113690.12081.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13891255564X8503641GA257885Benignnot_specified0.551930.569480.481851.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13892673328X8504652TC671095Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13893255563X8504833CT257886Benignnot_specified0.563570.591570.488211.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13894667655X8508062CT671188Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13895129215X11133069CT134661BenignHistory_of_neurodevelopmental_disorder|not_spe...0.021770.018380.008481.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1389695614X12722616CG101512Benignnot_specified0.994790.992850.995231.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13897367968X13730787GC338927BenignSpondyloepiphyseal_dysplasia..0.772981.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13898367970X13731222CAC338933BenignSpondyloepiphyseal_dysplasia...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13899367978X13731569CCAAAAAAAA348506BenignSpondyloepiphyseal_dysplasia...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13900367981X13731696CG352077BenignSpondyloepiphyseal_dysplasia..0.696691.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1390141157X13752895GT49579BenignOrofaciodigital_syndrome_I..0.376691.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1390294370X13771576AG100270Benignnot_specified0.234020.336120.383841.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13903691313X14862279TC678986Likely_benignHypothyroidism,_central,_and_testicular_enlarg......1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13904691312X14862289AG678987Likely_benignHypothyroidism,_central,_and_testicular_enlarg......1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1390593467X14868806AG99372BenignVACTERL_association_with_hydrocephalus|Hypothy...0.553910.563760.433641.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13906691303X14882553TG678995Likely_benignHypothyroidism,_central,_and_testicular_enlarg......1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13907691297X14883948GA679001Likely_benignHypothyroidism,_central,_and_testicular_enlarg......1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13908368036X14887147CG352786BenignVACTERL_association_with_hydrocephalus|Hypothy.....0.525561.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1390996644X17705850CCT102537Benign/Likely_benignnot_specified...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13910136713X18638082AC140416BenignHistory_of_neurodevelopmental_disorder|not_spe...0.033080.039760.016691.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1391196546X23398214TC102440BenignHistory_of_neurodevelopmental_disorder|not_spe...0.707090.594250.63551.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13912128994X24073761CT134440Likely_benignnot_specified0.50014.0.363181.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13913368183X28605876GTG352823BenignNon-syndromic_X-linked_intellectual_disability...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13914680543X31198204AG670807Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1391594854X31224684AG100754Benign/Likely_benignDilated_cardiomyopathy_3B|not_specified0.826470.883610.803971.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13916671240X31224881GA671117Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13917672561X31224994AG670811Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13918678092X31225071AG669960Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13919678473X31225080GGAA669963Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13920680541X31225499AG671119Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13921680544X31240905CA671121Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13922672560X31241026AG670823Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13923671291X31279271TC669971Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13924680538X31332258CA671123Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13925680536X31332294CT671124Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13926166667X31496350CT177478BenignDuchenne_muscular_dystrophy|not_specified0.956820.904520.881851.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1392794783X31676096GA100683Benign/Likely_benignDilated_cardiomyopathy_3B|not_specified0.338890.339780.328481.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13928679287X31792559GA670940Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13929672525X31838359TG670949Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13930674303X31893149CG670951Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13931671088X31897253GA670832Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13932439609X31986430CA433498Benignnot_specified|not_provided0.263720.329350.329011.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13933671238X31986774CT669996Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13934672522X32328572CT670967Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13935679286X32363822CT670980Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1393694657X32380996CT100557Benign/Likely_benignDuchenne_muscular_dystrophy|Dilated_cardiomyop...0.333110.514170.465171.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13937671085X32383034CT670009Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13938672517X32383469CT671134Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13939672488X32536452AG670865Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13940680537X32562998TC670867Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13941679284X32563054CT670039Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1394294495X32563263AG100395Benign/Likely_benignDilated_cardiomyopathy_3B|not_specified0.324720.320350.412191.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13943671082X32614103CT670874Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13944671081X32614116CA671141Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13945680546X32614247AG670046Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13946680545X32632856AG671024Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13947674341X32662122CT671143Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13948671236X32827465AG670883Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13949678471X33192255GA670061Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1395098793X38170067AG104683Likely_benignnot_specified|not_provided0.037780.018730.041321.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1395192856X38182792CT98763Benignnot_specified0.210440.228180.371921.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13952680701X38262566AG671038Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13953676164X38262808GA671150Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13954680703X38272193TC670065Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1395595772X39911657CA101669BenignOculofaciocardiodental_syndrome|History_of_neu...0.190720.157650.136691.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13956668777X40447956TTTTTG670927Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13957680088X41412729TC671054Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13958668858X41448495GT670096Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13959368312X46740032GA352863BenignRetinitis_pigmentosa_15..0.983581.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13960368331X47061018CG352254BenignSpinal_muscular_atrophy,_X-linked_2|not_specif...0.98921.0.971131.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13961368382X47327111TC352264BenignNon-syndromic_X-linked_intellectual_disability..0.779341.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13962720215X47446041GA729615Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1396396364X47466361AG102258BenignHistory_of_neurodevelopmental_disorder|not_spe...0.398280.380820.368741.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13964402535X47483800GA390437Benignnot_specified0.238190.228720.206891.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13965158531X48382174GT170112Benignnot_specified0.29272.0.315231.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1396695309X48759204CT101208BenignRenpenning_syndrome_1|History_of_neurodevelopm...0.573610.612380.625431.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13967197791X48935284CA194952Benignnot_specified0.043820.081070.017481.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13968166778X49075777CT177540Benign/Likely_benignnot_specified|not_provided0.043650.052810.018811.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13969284920X49105610TC269157Benignnot_specified0.523820.556270.475231.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13970804001X49767835AG792471BenignDent_disease_1...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397195973X50350674TC101869Benignnot_specified0.31052.0.299871.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397295971X50350728TTTCC101867Benignnot_specified...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397394872X53228148CA100772Benignnot_specified0.782920.891980.730331.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13974683643X53278322TC671165Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397595364X53449568GA101263Benignnot_specified|Cornelia_de_Lange_Syndrome0.406040.516290.398411.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397696203X53563589AG102097BenignHistory_of_neurodevelopmental_disorder|not_spe...0.991950.997340.994971.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13977129253X53641647TC134699BenignHistory_of_neurodevelopmental_disorder|not_spe...0.377920.489550.389671.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397896550X57474943AT102443Benignnot_specified0.904190.973720.914441.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13979667774X67431814AG671077Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13980667771X67432299CT671168Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13981667769X67652513AG670134Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1398244207X69250308CT53374Benignnot_specified0.30790.344180.221721.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13983287265X69672462GC271502Benignnot_specified0.266530.334320.346761.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13984670932X70338399AG670962Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13985259633X70339498CT257867Benign/Likely_benignnot_specified|not_provided0.231350.233170.111261.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13986683968X70340322CG670964Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13987674293X70340738AG671170Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1398895257X70341169AC101156Benignnot_specified|not_provided0.236770.222980.114171.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13989674530X70342820AG670970Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13990673346X70343621AG671172Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13991674295X70344331GC671173Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13992673347X70344763GT671078Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13993674531X70345683TG670973Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13994674532X70348344GA670976Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1399595248X70349947AC101147BenignHistory_of_neurodevelopmental_disorder|not_spe...0.225910.246110.110991.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13996259637X70352417TC257871Benignnot_specified|not_provided0.238610.238370.118151.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13997674533X70352516AG671174Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13998674534X70355258CTTC670982Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13999683154X70355882AT670983Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14000673789X70355942GC671175Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14001673790X70356642TC670148Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14002673791X70361608TC670986Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14003673349X70361967GA671081Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14004667467X73740502TC670162Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14005159903X73749319TG170185Likely_benignnot_specified0.590010.605770.343841.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14006678099X77166449TC671086Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1400792384X77298857GA98295BenignMenkes_kinky-hair_syndrome|History_of_neurodev....111.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14008368680X79925246AG352952BenignNon-syndromic_X-linked_intellectual_disability..0.521061.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14009368720X79931831CGTGTC339605BenignNon-syndromic_X-linked_intellectual_disability...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14010281080X79943569TC265317Benignnot_specified0.990250.99720.989671.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14011811240X82764040AGGGGC800324BenignDeafness,_X-linked_2...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14012130847X84501033CT136291BenignNon-syndromic_X-linked_intellectual_disability.....0.233641.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14013368751X84526987AG339626BenignNon-syndromic_X-linked_intellectual_disability..0.233111.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14014368755X84527466AG349119BenignPremature_ovarian_failure_2b|Non-syndromic_X-l.....0.233381.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14015368762X84532801CT352978BenignPremature_ovarian_failure_2b|Non-syndromic_X-l.....0.233111.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14016368763X84532996TG352979BenignPremature_ovarian_failure_2b|Non-syndromic_X-l.....0.233911.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14017368767X84533408GT352466BenignPremature_ovarian_failure_2b..0.234171.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14018368771X84533758AG352983BenignPremature_ovarian_failure_2b..0.135891.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14019368776X84534115TG352985BenignPremature_ovarian_failure_2b..0.233911.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14020368780X84534383AC339631BenignPremature_ovarian_failure_2b0.994120.621230.988611.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14021368787X84563135TA352472BenignPremature_ovarian_failure_2b0.830540.8530.912051.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14022670593X99665285GA670946Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14023670592X99665333CG669731Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14024670790X99919733GA670948Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14025667526X99920975GA670691Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14026691856X102436640TC679561Benignnot_specified...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14027691854X103036909AGA679563Benignnot_specified...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14028670482X103040400TC669752Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14029258270X107418906AG257731Benignnot_specified0.983050.995110.983841.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14030258267X107433688AG257734Benignnot_specified0.742590.685130.573251.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14031369632X110464173CAC353861BenignNon-syndromic_X-linked_intellectual_disability...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14032238289X110963338TC243731BenignHistory_of_neurodevelopmental_disorder|Epilept...0.013050.018620.00531.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14033676336X113818582GC656729Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
140349885X113965735GC24924BenignSEROTONIN_5-HT-2C_RECEPTOR_POLYMORPHISM|not_pr....0.154370.165831.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14035684056X118972782AG670784Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14036673765X118977332AG670789Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14037670475X118985598CT670985Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14038684051X118987177TC670993Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14039367743X119560599TC351990Likely_benignHypertrophic_cardiomyopathy|Danon_disease..0.709671.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14040679266X119691591TC669829Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14041367863X123047453TA348434BenignLymphoproliferative_syndrome.0.041830.021721.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14042367875X123505439GAG348443BenignLymphoproliferative_syndrome...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14043367885X123506562AG352057BenignLymphoproliferative_syndrome..0.188611.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14044804084X128674631TTG792121BenignLowe_syndrome...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1404511567X128870791CA26606risk_factorAngioedema_induced_by_ACE_inhibitors,_suscepti.....0.230991.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14046197828X128957640TC194989Benignnot_specified0.932970.906960.800531.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14047683838X129265394AG670718Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14048677968X129269780GC670721Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14049367892X129283520AG352059BenignDeafness,_X-linked_5|Combined_oxidative_phosph...0.50980.432940.491131.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14050677967X129283786AG670810Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14051257593X130416958CT257749BenignHypothyroidism,_central,_and_testicular_enlarg...0.88820.968280.906231.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14052670935X133511988GA670725Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1405394028X148055144AG99930Benignnot_specified0.935060.982910.954171.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1405492619X148582549GA98527BenignMucopolysaccharidosis,_MPS-II|History_of_neuro...0.343080.278310.192581.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14055159450X152018832TG170076Benignnot_specified0.82070.876370.861461.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14056518408X152807923GC508950BenignSpinocerebellar_ataxia,_X-linked_10.990250.996960.988611.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14057518409X152815089AG508951BenignSpinocerebellar_ataxia,_X-linked_10.989490.996680.985431.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14058518410X152821887CT508952BenignSpinocerebellar_ataxia,_X-linked_10.940940.982210.94571.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14059518411X152823728GC508953BenignSpinocerebellar_ataxia,_X-linked_10.389380.52860.473911.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14060518412X152825414GT508954BenignSpinocerebellar_ataxia,_X-linked_10.852690.931660.881061.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14061130355X152954025AG135802BenignCreatine_deficiency,_X-linked|History_of_neuro....1.1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14062439347X153008911CT433335Benignnot_specified0.575270.650420.613511.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14063166627X153008970CT177456Benign/Likely_benignAdrenoleukodystrophy|History_of_neurodevelopme...0.0128.0.010331.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1406492313X153009197GC98224BenignAdrenoleukodystrophy|History_of_neurodevelopme...0.758850.719650.74041.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14065368066X153010066CT352124BenignAdrenoleukodystrophy..0.731131.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14066368067X153010083GA339037BenignAdrenoleukodystrophy..0.459871.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14067369635X153010224CT353864BenignAdrenoleukodystrophy..0.738541.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14068804115X153151280GGCC792154BenignX-linked_hydrocephalus_syndrome...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14069804116X153151284GTG792155BenignX-linked_hydrocephalus_syndrome...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14070804117X153151423GGCGGC792156Likely_benignX-linked_hydrocephalus_syndrome...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14071254772X153170980TG257778Benign/Likely_benignNephrogenic_diabetes_insipidus|Nephrogenic_dia....0.99930.999211.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14072402391X153176254AG390496Benignnot_specified0.557980.591330.70491.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1407395281X153215839GA101180Benignnot_specified0.43930.431990.191261.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14074156056X153297392AG165852Benignnot_specified|not_provided..0.630461.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14075167075X153577722TC177710Benign/Likely_benignConnective_tissue_disorder|not_specified|not_p...0.000720.000550.000531.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14076670955X153579448AG669893Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1407795327X153629155AG101226BenignHistory_of_neurodevelopmental_disorder|not_spe....0.826080.668871.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14078368091X153649813GC352797BenignEndocardial_fibroelastosis|Left_ventricular_no......1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14079129149X153667176TC134595BenignHistory_of_neurodevelopmental_disorder|not_spe...0.309760.188820.290861.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14080726401X153694535GC743254Likely_benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14081368096X153759858TC352799Likely_benignGlucose_6_phosphate_dehydrogenase_deficiency..0.415361.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1408293494X153760508AG99399Benign/Likely_benignGlucose_6_phosphate_dehydrogenase_deficiency|n...0.392350.254390.414831.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14083166994X153994596GT177673Benign/Likely_benignDyskeratosis_congenita_X-linked|not_specified0.991860.997440.992581.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14084368105X154064200CT339078BenignHemophilia_A,_FVIII_Deficiency..0.556031.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14085368133X154488432GA339086BenignNon-syndromic_X-linked_intellectual_disability..0.403971.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1408693695X154507173TG99598Benignnot_specified0.351510.284380.354171.https://www.ncbi.nlm.nih.gov/clinvar/variation...