ClinVar Miner

List of variants reported as uncertain significance for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

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Total variants: 6
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NM_000348.4(SRD5A2):c.*43G>A rs28383082
NM_000348.4(SRD5A2):c.446-10_446-8del rs758063160
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=) rs767928056
NM_000348.4(SRD5A2):c.548-5C>G rs753272225
NM_000348.4(SRD5A2):c.548-9T>G rs1057519061
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser) rs574377752

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