ClinVar Miner

List of variants in gene GJB2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
Download table as spreadsheet
HGVS dbSNP
NC_000013.10:g.(?_20762215_20763473del
NM_004004.5(GJB2):c.-216T>G rs574815423
NM_004004.5(GJB2):c.592_600delGTGTCTGGAins17 (p.?)
NM_004004.6(GJB2):c.*104A>T rs7337074
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.*111C>T rs7329857
NM_004004.6(GJB2):c.*1152G>A rs7623
NM_004004.6(GJB2):c.*1197T>A rs11841182
NM_004004.6(GJB2):c.*168A>G rs55704559
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.*3C>A rs111033460
NM_004004.6(GJB2):c.*84T>C rs3751385
NM_004004.6(GJB2):c.*931C>T rs5030700
NM_004004.6(GJB2):c.-112A>C rs1555342240
NM_004004.6(GJB2):c.-15C>T rs72561725
NM_004004.6(GJB2):c.-16C>T rs759745271
NM_004004.6(GJB2):c.-173G>C rs1016014284
NM_004004.6(GJB2):c.-174C>G rs541058463
NM_004004.6(GJB2):c.-22-12C>G rs9578260
NM_004004.6(GJB2):c.-22-12C>T rs9578260
NM_004004.6(GJB2):c.-22-18T>A rs778602324
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-22-332C>A
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.-23+12G>A rs397516866
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.-23+253C>T
NM_004004.6(GJB2):c.-23+792C>T
NM_004004.6(GJB2):c.-45C>A rs397516868
NM_004004.6(GJB2):c.-47C>G rs1555342239
NM_004004.6(GJB2):c.-6T>A rs148136545
NM_004004.6(GJB2):c.-7G>A rs398123813
NM_004004.6(GJB2):c.100A>T (p.Met34Leu) rs564084861
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) rs35887622
NM_004004.6(GJB2):c.104T>G (p.Ile35Ser)
NM_004004.6(GJB2):c.108C>G (p.Leu36=)
NM_004004.6(GJB2):c.108C>T (p.Leu36=) rs138547875
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) rs111033296
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903
NM_004004.6(GJB2):c.15G>A (p.Thr5=)
NM_004004.6(GJB2):c.162C>T (p.Asn54=)
NM_004004.6(GJB2):c.166C>T (p.Leu56=)
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297
NM_004004.6(GJB2):c.171G>A (p.Gln57=) rs1064797175
NM_004004.6(GJB2):c.174A>G (p.Pro58=) rs778922005
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.177C>T (p.Gly59=) rs375122728
NM_004004.6(GJB2):c.186C>T (p.Asn62=) rs397516869
NM_004004.6(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.189G>T (p.Val63=)
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter) rs763572195
NM_004004.6(GJB2):c.195C>T (p.Tyr65=)
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.200dup (p.His67fs)
NM_004004.6(GJB2):c.21G>A (p.Gln7=) rs137932057
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.6(GJB2):c.225G>T (p.Arg75=)
NM_004004.6(GJB2):c.228A>G (p.Leu76=)
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.233C>A (p.Ala78Asp)
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.238C>A (p.Gln80Lys)
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302
NM_004004.6(GJB2):c.239dup (p.Leu81fs) rs1555341954
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.249C>T (p.Phe83=)
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493
NM_004004.6(GJB2):c.24G>C (p.Thr8=)
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.258G>A (p.Thr86=)
NM_004004.6(GJB2):c.264G>A (p.Ala88=)
NM_004004.6(GJB2):c.267C>G (p.Leu89=) rs727503067
NM_004004.6(GJB2):c.268del (p.Leu89_Leu90insTer)
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338
NM_004004.6(GJB2):c.275C>T (p.Ala92Val) rs1959060006
NM_004004.6(GJB2):c.276C>T (p.Ala92=) rs1593351392
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871
NM_004004.6(GJB2):c.27C>A (p.Ile9=)
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491
NM_004004.6(GJB2):c.291C>T (p.Tyr97=)
NM_004004.6(GJB2):c.294G>C (p.Arg98=) rs1334783390
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.302AGA[2] (p.Lys103del) rs1555341934
NM_004004.6(GJB2):c.308A>G (p.Lys103Arg)
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873
NM_004004.6(GJB2):c.32_45del (p.Gly11fs) rs1290698257
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.33G>T (p.Gly11=)
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.354C>T (p.Ile118=)
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.363C>A (p.Ile121=)
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.384C>T (p.Ile128=) rs111033298
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.387A>G (p.Glu129=)
NM_004004.6(GJB2):c.40A>G (p.Asn14Asp) rs1476034902
NM_004004.6(GJB2):c.410C>G (p.Thr137Arg)
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.41dup (p.Asn14fs)
NM_004004.6(GJB2):c.420C>T (p.Ile140=)
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser) rs116769964
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.435C>T (p.Ile145=) rs1210470150
NM_004004.6(GJB2):c.438C>T (p.Phe146=)
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.440A>G (p.Glu147Gly)
NM_004004.6(GJB2):c.444C>G (p.Ala148=)
NM_004004.6(GJB2):c.444C>T (p.Ala148=)
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.456C>T (p.Tyr152=) rs111033420
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) rs772264564
NM_004004.6(GJB2):c.474C>T (p.Tyr158=)
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.6(GJB2):c.477C>T (p.Asp159=)
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603
NM_004004.6(GJB2):c.488T>G (p.Met163Arg)
NM_004004.6(GJB2):c.490C>G (p.Gln164Glu)
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053
NM_004004.6(GJB2):c.513C>G (p.Ala171=)
NM_004004.6(GJB2):c.516G>A (p.Trp172Ter) rs1302739538
NM_004004.6(GJB2):c.517C>T (p.Pro173Ser) rs1959056736
NM_004004.6(GJB2):c.518C>T (p.Pro173Leu) rs1555341843
NM_004004.6(GJB2):c.51C>A (p.Ser17=)
NM_004004.6(GJB2):c.522T>C (p.Cys174=)
NM_004004.6(GJB2):c.523_533del (p.Pro175fs) rs876657693
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627
NM_004004.6(GJB2):c.53C>G (p.Thr18Ser) rs1566529035
NM_004004.6(GJB2):c.53_63del (p.Thr18fs)
NM_004004.6(GJB2):c.546G>A (p.Val182=) rs752236261
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.552G>A (p.Arg184=)
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) rs1451982228
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.582C>T (p.Phe194=) rs794727271
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640
NM_004004.6(GJB2):c.592G>A (p.Val198Met)
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.600A>C (p.Gly200=)
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004004.6(GJB2):c.606C>T (p.Cys202=)
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.621C>T (p.Val207=)
NM_004004.6(GJB2):c.628T>C (p.Leu210=) rs1036073348
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.645T>C (p.Ile215=)
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647G>T (p.Arg216Ile)
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.6(GJB2):c.675A>T (p.Pro225=) rs563151740
NM_004004.6(GJB2):c.6T>C (p.Asp2=)
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.73C>T (p.Leu25Phe) rs1555342006
NM_004004.6(GJB2):c.77_106dup (p.Leu36_Val37insProValLeuPheIlePheArgIleMetIle) rs398123815
NM_004004.6(GJB2):c.78C>T (p.Thr26=) rs201848820
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084
NM_004004.6(GJB2):c.85_87del (p.Phe29del) rs1555342003
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys) rs111033401
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.