ClinVar Miner

List of variants studied for adrenocortical insufficiency by Genomics England Pilot Project, Genomics England

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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)	rs104894090	0.00003
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro)	rs2147006592
NM_000500.9(CYP21A2):c.293-13C>G	rs6467

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