ClinVar Miner

List of variants in gene SRD5A2 reported as likely pathogenic for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP
NC_000002.11:g.(?_31756421)_(31756562_?)del
NM_000348.4(SRD5A2):c.548-2A>C rs61750397
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val) rs1553323488
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys) rs1553323036

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