List of variants reported as pathogenic for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	rs9332964	0.00016
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)	rs121434250	0.00015
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)	rs9332961	0.00002
NM_000348.4(SRD5A2):c.164T>C (p.Leu55Pro)	rs121434245

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