ClinVar Miner

List of variants reported as likely pathogenic for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

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Total variants: 10
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NM_000348.4(SRD5A2):c.317del (p.Pro106fs)
NM_000348.4(SRD5A2):c.321T>A (p.Tyr107Ter)
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747
NM_000348.4(SRD5A2):c.384C>G (p.Tyr128Ter)
NM_000348.4(SRD5A2):c.548-2A>C rs61750397
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val) rs1553323488
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys) rs1553323036

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