ClinVar Miner

List of variants reported as pathogenic for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency by Shenzhen Institute of Pediatrics, Shenzhen Children's 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter)	rs1060499834	0.00001
NM_000348.3(SRD5A2):c.[548-9T>G];[680G>A]
NM_000348.3(SRD5A2):c.[680G>A];[694C>G]

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