ClinVar Miner

List of variants in gene GJB1 reported as pathogenic by Northcott Neuroscience Laboratory, ANZAC Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) rs587777877
NM_000166.6(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876

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