ClinVar Miner

List of variants in gene GJB2 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-23G>T rs786204734
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.119C>G (p.Ala40Gly) rs111033296
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.128_129TG[1] (p.Trp44fs) rs1555341993
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.134del (p.Gly45fs) rs1057517491
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe) rs587783645
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser) rs1064797090
NM_004004.6(GJB2):c.176G>A (p.Gly59Asp) rs104894404
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.196G>T (p.Asp66Tyr)
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.1A>T (p.Met1Leu) rs111033293
NM_004004.6(GJB2):c.223C>G (p.Arg75Gly)
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
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.244A>G (p.Ile82Val) rs1566528711
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.257del (p.Thr86fs) rs1555341949
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.2T>G (p.Met1Arg) rs371086981
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.338_341dup (p.Phe115_Lys116insTer) rs1555341926
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) rs786204690
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
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.44A>C (p.Lys15Thr) rs111033217
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603
NM_004004.6(GJB2):c.49_50del (p.Ser17fs) rs1555342007
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.514del (p.Trp172fs) rs1057517508
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627
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.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.573_574CA[1] (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.630_631GT[1] (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.668_671del (p.Lys223fs) rs1555341783
NM_004004.6(GJB2):c.85_87del (p.Phe29del) rs1555342003
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) 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.