ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002

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