ClinVar Miner

List of variants in gene GJB2 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_004004.6(GJB2):c.-174C>G rs541058463 0.00097
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004004.6(GJB2):c.186C>T (p.Asn62=) rs397516869 0.00016
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004004.6(GJB2):c.78C>T (p.Thr26=) rs201848820 0.00004
NM_004004.6(GJB2):c.21G>A (p.Gln7=) rs137932057 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004004.6(GJB2):c.203A>G (p.Tyr68Cys) rs397516870 0.00001
NM_004004.6(GJB2):c.219C>T (p.His73=) rs727504755 0.00001
NM_004004.6(GJB2):c.267C>G (p.Leu89=) rs727503067 0.00001
NM_004004.5(GJB2):c.[79G>A;341A>G]
NM_004004.6(GJB2):c.300T>C (p.His100=) rs1317569039
NM_004004.6(GJB2):c.384C>T (p.Ile128=) rs111033298
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876

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