ClinVar Miner

List of variants in gene SRD5A2 reported as benign for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000348.3(SRD5A2):c.-62G>C rs632148
NM_000348.4(SRD5A2):c.*1552G>A rs1042578
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858
NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp) rs867198056
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val) rs28383048
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=) rs28383064
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057

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