ClinVar Miner

List of variants reported as likely benign for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000044.6(AR):c.1370_1372GCG[15] (p.Gly472_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[16] (p.Gly473del) rs746853821
NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Gln58_Gln59insLeuGlnGln) rs1206863775
NM_000348.4(SRD5A2):c.*1056G>C rs28383085
NM_000348.4(SRD5A2):c.*1273A>G rs28383086
NM_000348.4(SRD5A2):c.*224A>T rs28383083
NM_000348.4(SRD5A2):c.*849A>G rs9332975
NM_000348.4(SRD5A2):c.*88T>A rs370989010
NM_000348.4(SRD5A2):c.*91C>T rs192604242
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873

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