ClinVar Miner

List of variants studied for Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (1):

Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter)	rs2060639501

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