ClinVar Miner

List of variants in gene GJB2 studied for Deafness, autosomal recessive 1A

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Total variants: 162
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HGVS dbSNP
NM_004004.5(GJB2):c.*111C>T rs7329857
NM_004004.5(GJB2):c.*1C>T rs111033327
NM_004004.5(GJB2):c.*3C>A rs111033460
NM_004004.5(GJB2):c.*84T>C rs3751385
NM_004004.5(GJB2):c.-22-1G>A rs551625098
NM_004004.5(GJB2):c.-22-2A>G rs201895089
NM_004004.5(GJB2):c.-23G>T rs786204734
NM_004004.5(GJB2):c.-259C>T rs1417111166
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.5(GJB2):c.-7G>A rs398123813
NM_004004.5(GJB2):c.119C>G (p.Ala40Gly) rs111033296
NM_004004.5(GJB2):c.11delG (p.Gly4Alafs) rs1555342014
NM_004004.5(GJB2):c.130_131delTG (p.Trp44Glyfs) rs1555341993
NM_004004.5(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.5(GJB2):c.133G>A (p.Gly45Arg) rs1326514987
NM_004004.5(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.5(GJB2):c.134delG (p.Gly45Glufs) rs1057517491
NM_004004.5(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.5(GJB2):c.146C>T (p.Ala49Val) rs1057517976
NM_004004.5(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.5(GJB2):c.154G>C (p.Val52Leu) rs1555341987
NM_004004.5(GJB2):c.157T>C (p.Cys53Arg) rs1555341986
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.169C>T (p.Gln57Ter) rs111033297
NM_004004.5(GJB2):c.176_191del16 (p.Gly59Alafs) rs750188782
NM_004004.5(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.5(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.5(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.5(GJB2):c.1A>T (p.Met1Leu) rs111033293
NM_004004.5(GJB2):c.212T>C (p.Ile71Thr) rs1373154561
NM_004004.5(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.5(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.5(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.5(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.5(GJB2):c.232dup (p.Ala78Glyfs) rs1555341960
NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) rs80338943
NM_004004.5(GJB2):c.236T>C (p.Leu79Pro) rs1555341957
NM_004004.5(GJB2):c.238C>T (p.Gln80Ter) rs199883710
NM_004004.5(GJB2):c.239A>C (p.Gln80Pro) rs727504302
NM_004004.5(GJB2):c.239dup (p.Leu81Alafs) rs1555341954
NM_004004.5(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.5(GJB2):c.246C>G (p.Ile82Met) rs781534323
NM_004004.5(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.5(GJB2):c.24G>A (p.Thr8=) rs533231493
NM_004004.5(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.5(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.5(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.5(GJB2):c.257C>T (p.Thr86Met) rs1291519904
NM_004004.5(GJB2):c.257delC (p.Thr86Serfs) rs1555341949
NM_004004.5(GJB2):c.260C>T (p.Pro87Leu) rs1555341946
NM_004004.5(GJB2):c.263C>G (p.Ala88Gly) rs1555341945
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.5(GJB2):c.269dupT (p.Val91Serfs) rs730880338
NM_004004.5(GJB2):c.278T>C (p.Met93Thr) rs1461894310
NM_004004.5(GJB2):c.279G>A (p.Met93Ile) rs397516871
NM_004004.5(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.5(GJB2):c.290dupA (p.Tyr97Terfs) rs786204491
NM_004004.5(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.5(GJB2):c.298delC (p.His100Metfs) rs775828835
NM_004004.5(GJB2):c.299_300delAT (p.His100Argfs) rs111033204
NM_004004.5(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.5(GJB2):c.2T>G (p.Met1Arg) rs371086981
NM_004004.5(GJB2):c.301_303delGAG (p.Glu101del) rs1555341937
NM_004004.5(GJB2):c.312G>A (p.Arg104=) rs267603770
NM_004004.5(GJB2):c.312_327del (p.Lys105Argfs) rs797045596
NM_004004.5(GJB2):c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) rs111033253
NM_004004.5(GJB2):c.318C>A (p.Phe106Leu) rs779358271
NM_004004.5(GJB2):c.31_68del38 (p.Gly11Leufs) rs397516873
NM_004004.5(GJB2):c.327_328delGGinsA (p.Glu110Argfs) rs1555341931
NM_004004.5(GJB2):c.331A>G (p.Ile111Val) rs1003660637
NM_004004.5(GJB2):c.334_335delAA (p.Lys112Glufs) rs756484720
NM_004004.5(GJB2):c.338_341dup (p.Phe115Terfs) rs1555341926
NM_004004.5(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.5(GJB2):c.341A>G (p.Glu114Gly) rs2274083
NM_004004.5(GJB2):c.358G>A (p.Glu120Lys) rs528216023
NM_004004.5(GJB2):c.358_360delGAG (p.Glu120del) rs80338947
NM_004004.5(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.5(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.5(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.5(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.5(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.5(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.5(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.5(GJB2):c.408C>A (p.Tyr136Ter) rs786204690
NM_004004.5(GJB2):c.415A>T (p.Ser139Cys) rs1555341907
NM_004004.5(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.5(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.5(GJB2):c.445_486del42 (p.Ala149_Ser162del) rs1555341874
NM_004004.5(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.5(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.5(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.5(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.5(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.5(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.5(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.5(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.5(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.5(GJB2):c.49_50delTC (p.Ser17Hisfs) rs1555342007
NM_004004.5(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.5(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.5(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004004.5(GJB2):c.514T>A (p.Trp172Arg) rs770330002
NM_004004.5(GJB2):c.514delT (p.Trp172Glyfs) rs1057517508
NM_004004.5(GJB2):c.516G>C (p.Trp172Cys)
NM_004004.5(GJB2):c.51_62delCACCAGCATTGGinsA (p.Thr18Lysfs) rs886037624
NM_004004.5(GJB2):c.527A>G (p.Asn176Ser) rs1555341840
NM_004004.5(GJB2):c.533T>C (p.Val178Ala) rs568612627
NM_004004.5(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.5(GJB2):c.564_565delGA (p.Lys188Asnfs) rs770116143
NM_004004.5(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.5(GJB2):c.575_576delCA (p.Thr192Serfs) rs1057517521
NM_004004.5(GJB2):c.583A>G (p.Met195Val) rs532203068
NM_004004.5(GJB2):c.584T>C (p.Met195Thr) rs1378679640
NM_004004.5(GJB2):c.585G>A (p.Met195Ile) rs570552952
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.5(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.5(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.5(GJB2):c.598G>T (p.Gly200Ter) rs786204597
NM_004004.5(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.5(GJB2):c.608T>C (p.Ile203Thr) rs76838169
NM_004004.5(GJB2):c.60T>G (p.Ile20Met) rs749693224
NM_004004.5(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.5(GJB2):c.632_633delGT (p.Cys211Leufs) rs587783646
NM_004004.5(GJB2):c.645delT (p.Arg216Aspfs) rs1555341794
NM_004004.5(GJB2):c.647_650delGATA (p.Arg216Ilefs) rs587783647
NM_004004.5(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.5(GJB2):c.665C>A (p.Ser222Ter) rs766975999
NM_004004.5(GJB2):c.668_671delAAAA (p.Lys223Serfs) rs1555341783
NM_004004.5(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.5(GJB2):c.674C>T (p.Pro225Leu) rs1555341782
NM_004004.5(GJB2):c.72G>A (p.Trp24Ter) rs769486081
NM_004004.5(GJB2):c.79G>A (p.Val27Ile) rs2274084
NM_004004.5(GJB2):c.88A>G (p.Ile30Val) rs374625633
NM_004004.5(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.5(GJB2):c.94C>T (p.Arg32Cys) rs371024165
NM_004004.5(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.5(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.5(GJB2):c.[134G>A;408C>A]
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
NM_004004.6(GJB2):c.280_284dup (p.Ala96Thrfs) rs886037625
NM_004004.6(GJB2):c.299A>T (p.His100Leu)
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35dup (p.Val13Cysfs) rs80338939
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874
NM_004004.6(GJB2):c.37G>A (p.Val13Met)
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.508_511dup (p.Ala171Glufs) rs773528125
NM_004004.6(GJB2):c.559_604dup (p.Cys202Terfs)
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
Single allele

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