ClinVar Miner

List of variants studied for adrenocortical insufficiency by Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM

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

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HGVS	dbSNP	gnomAD frequency
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)	rs375833424	0.00005
NM_000497.4(CYP11B1):c.1438del (p.Asp480fs)	rs1816868757

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