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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HGVS	dbSNP	gnomAD frequency
NM_000348.4(SRD5A2):c.*43G>A	rs28383082	0.00951
NM_000348.4(SRD5A2):c.548-9T>G	rs1057519061	0.00002
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser)	rs574377752	0.00001
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

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