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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)	rs121434251	0.00016
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)	rs121434247	0.00015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)	rs121434250	0.00015
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg)	rs121434252	0.00006
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter)	rs121434248	0.00004
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp)	rs121434244	0.00003
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)	rs121434246	0.00002
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp)	rs121434253	0.00001
NC_000002.12:g.(?_31524586)_(31580971_?)del
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln)	rs121434245
NM_000348.4(SRD5A2):c.468_470del (p.Met157del)	rs587776566
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)	rs121434249
NM_000348.4(SRD5A2):c.753del (p.Phe252fs)	rs587776567

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