ClinVar Miner

List of variants studied for 46,XY disorder of sex development of gynecological interest by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
NM_000044.6(AR):c.2090C>A (p.Ser697Tyr) rs1555995842
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu) rs1554879846
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249

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