ClinVar Miner

List of variants reported as uncertain significance for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency by Invitae

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Total variants: 7
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NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu) rs61748122
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro) rs764433016
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) rs1553324169
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308

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