ClinVar Miner

List of variants in gene GJB2 reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627 0.00004
NM_004004.6(GJB2):c.208C>G (p.Pro70Ala) rs200023879 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) rs111033296 0.00002
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835 0.00002
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764 0.00002
NM_004004.6(GJB2):c.104T>G (p.Ile35Ser) rs756467247 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.500T>C (p.Val167Ala) rs201983374 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) rs35887622
NM_004004.6(GJB2):c.109G>T (p.Val37Phe) rs72474224
NM_004004.6(GJB2):c.118G>A (p.Ala40Thr)
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
NM_004004.6(GJB2):c.136G>C (p.Asp46His) rs1064797088
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser) rs2137308512
NM_004004.6(GJB2):c.176G>T (p.Gly59Val) rs104894404
NM_004004.6(GJB2):c.178T>G (p.Cys60Gly)
NM_004004.6(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.187G>C (p.Val63Leu)
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr) rs104894403
NM_004004.6(GJB2):c.206T>C (p.Phe69Ser)
NM_004004.6(GJB2):c.207C>G (p.Phe69Leu)
NM_004004.6(GJB2):c.232G>T (p.Ala78Ser) rs1959060696
NM_004004.6(GJB2):c.233C>A (p.Ala78Asp) rs1481417187
NM_004004.6(GJB2):c.238C>A (p.Gln80Lys) rs199883710
NM_004004.6(GJB2):c.251T>C (p.Val84Ala)
NM_004004.6(GJB2):c.256A>G (p.Thr86Ala)
NM_004004.6(GJB2):c.266T>C (p.Leu89Pro) rs1959060148
NM_004004.6(GJB2):c.277A>C (p.Met93Leu)
NM_004004.6(GJB2):c.277A>G (p.Met93Val)
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys) rs1555341907
NM_004004.6(GJB2):c.41A>G (p.Asn14Ser)
NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter)
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg) rs760489970
NM_004004.6(GJB2):c.517C>T (p.Pro173Ser) rs1959056736
NM_004004.6(GJB2):c.518C>G (p.Pro173Arg)
NM_004004.6(GJB2):c.526A>G (p.Asn176Asp) rs781767722
NM_004004.6(GJB2):c.527A>G (p.Asn176Ser) rs1555341840
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.548C>T (p.Ser183Phe)
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.56G>T (p.Ser19Ile)
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.583A>T (p.Met195Leu)
NM_004004.6(GJB2):c.585G>A (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.585G>C (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.585G>T (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.595T>C (p.Ser199Pro)
NM_004004.6(GJB2):c.595T>G (p.Ser199Ala)
NM_004004.6(GJB2):c.604T>C (p.Cys202Arg)
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004004.6(GJB2):c.641T>G (p.Leu214Arg)
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.82C>G (p.Leu28Val)
NM_004004.6(GJB2):c.85_87del (p.Phe29del) rs1555342003
NM_004004.6(GJB2):c.88A>T (p.Ile30Phe)
NM_004004.6(GJB2):c.89T>C (p.Ile30Thr)
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190

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