ClinVar Miner

List of variants reported as pathogenic for 46,XX disorder of sex development by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251

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