ClinVar Miner

List of variants studied for 46,XX disorder of sex development induced by androgens excess by Mendelics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000500.9(CYP21A2):c.*13G>A rs6447
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) rs767333157
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe)
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val)
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471

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