ClinVar Miner

List of variants reported as pathogenic for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)	rs368386747	0.00009
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter)	rs121434248	0.00004
NM_000348.4(SRD5A2):c.548-2A>C	rs61750397	0.00003

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