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 Revvity Omics, Revvity

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)	rs6161	0.00262
NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter)	rs755186597	0.00001

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