ClinVar Miner

List of variants reported as benign for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency by Molecular Genetics, Royal Melbourne Hospital

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)	rs9282858	0.02117

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