ClinVar Miner

List of variants studied for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.384C>G (p.Tyr128Ter) rs1665963551
NM_000348.4(SRD5A2):c.88C>T (p.Pro30Ser)
NM_000348.4(SRD5A2):c.93C>T (p.Ser31=)

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