ClinVar Miner

List of variants in gene GJB2 reported as likely pathogenic by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 8
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HGVS dbSNP
NM_004004.6(GJB2):c.-23+1G>A rs80338940
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.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter) rs150529554
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396

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