ClinVar Miner

List of variants studied for adrenocortical insufficiency by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (20):

3 beta-Hydroxysteroid dehydrogenase deficiency
Adrenal insufficiency
Alacrima, achalasia, and intellectual disability syndrome
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hypoplasia, X-linked
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2
Congenital lipoid adrenal hyperplasia due to STAR deficency
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism
Deficiency of steroid 17-alpha-monooxygenase
Glucocorticoid deficiency 1
Glucocorticoid deficiency 2
Glucocorticoid deficiency 4
Glucocorticoid deficiency 5
Glucocorticoid deficiency with achalasia
Primary adrenocortical insufficiency

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

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	rs7755898	0.00339
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)	rs776989258	0.00047

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