ClinVar Miner

List of variants reported as likely pathogenic for 46,XY disorder of sex development by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val) rs142236065 0.00004
NM_000044.6(AR):c.2090C>A (p.Ser697Tyr) rs1555995842
NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr) rs780178733
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) rs1554721235

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