ClinVar Miner

List of variants in gene GJB2 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
Download table as spreadsheet
HGVS dbSNP
NC_000013.11:g.20192983G>C
NM_004004.5(GJB2):c.-208G>T rs1555342246
NM_004004.5(GJB2):c.-216T>G rs574815423
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.5(GJB2):c.[79G>A;341A>G]
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.*3C>A rs111033460
NM_004004.6(GJB2):c.-127G>C rs727503068
NM_004004.6(GJB2):c.-15C>T rs72561725
NM_004004.6(GJB2):c.-174C>G rs541058463
NM_004004.6(GJB2):c.-22-12C>T rs9578260
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.-23G>T rs786204734
NM_004004.6(GJB2):c.-30C>T rs397516867
NM_004004.6(GJB2):c.-45C>A rs397516868
NM_004004.6(GJB2):c.-6T>A rs148136545
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.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.109G>T (p.Val37Phe) 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.133G>A (p.Gly45Arg) rs1326514987
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297
NM_004004.6(GJB2):c.176G>A (p.Gly59Asp) rs104894404
NM_004004.6(GJB2):c.186C>T (p.Asn62=) rs397516869
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203
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.203A>G (p.Tyr68Cys) rs397516870
NM_004004.6(GJB2):c.219C>T (p.His73=) rs727504755
NM_004004.6(GJB2):c.21G>A (p.Gln7=) rs137932057
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361
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.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
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.267C>G (p.Leu89=) rs727503067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871
NM_004004.6(GJB2):c.280C>T (p.His94Tyr) rs1593351383
NM_004004.6(GJB2):c.281A>T (p.His94Leu) rs397516872
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204
NM_004004.6(GJB2):c.300T>C (p.His100=) rs1317569039
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.334_335del (p.Lys112fs) rs756484720
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.350A>G (p.Asp117Gly) rs111033441
NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) rs80338947
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.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.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.426C>A (p.Phe142Leu) rs397516877
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
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.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.470T>C (p.Met157Thr) rs727504789
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.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.50C>G (p.Ser17Cys) rs28929485
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004004.6(GJB2):c.523_533del (p.Pro175fs) rs876657693
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.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn) rs199790409
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.596C>T (p.Ser199Phe) rs771748289
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.645del (p.Arg216fs) rs1555341794
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.677T>G (p.Val226Gly) rs773846324
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
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.94C>T (p.Arg32Cys) rs371024165
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401

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.