ClinVar Miner

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

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Total variants: 18
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NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter) rs267599353
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp) rs767564684
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) rs121434252
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) rs121434251
NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe) rs772283403
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp) rs121434244
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967

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