ClinVar Miner

List of variants studied for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (1):

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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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.16C>T (p.Gln6Ter)	rs9332960	0.00002
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)	rs121434249

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