ClinVar Miner

List of variants reported as uncertain significance for adrenal cortex disorder by 3billion

Included ClinVar conditions (44):

3 beta-Hydroxysteroid dehydrogenase deficiency
Adenoid cystic carcinoma
Adrenal cortex carcinoma
Adrenal insufficiency
Adrenocortical adenoma
Adrenocortical carcinoma, hereditary
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Familial pancreatic carcinoma; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Colorectal cancer; Bone marrow failure syndrome 5
Alacrima, achalasia, and intellectual disability syndrome
Aldosterone-producing adenoma with seizures and neurological abnormalities
Aldosterone-producing adrenal cortex adenoma
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
Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism
Deficiency of steroid 17-alpha-monooxygenase
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV
Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Familial hyperaldosteronism
Familial hyperaldosteronism type II
Familial hyperaldosteronism type III
Gastrointestinal carcinoma; Adrenal cortex carcinoma
Glucocorticoid deficiency 1
Glucocorticoid deficiency 2
Glucocorticoid deficiency 4
Glucocorticoid deficiency 5
Glucocorticoid deficiency with achalasia
Glucocorticoid-remediable aldosteronism
Hyperaldosteronism, familial, type IV
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV
Increased circulating aldosterone concentration
Long QT syndrome 13; Familial hyperaldosteronism type III
Primary adrenocortical insufficiency
Primary aldosteronism
Sinoatrial node dysfunction and deafness; Aldosterone-producing adenoma with seizures and neurological abnormalities

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000500.9(CYP21A2):c.738+75C>T	rs1463196531	0.00003
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)	rs12530380	0.00001
NM_000497.4(CYP11B1):c.1385del (p.Leu462fs)	rs2130266058
NM_000497.4(CYP11B1):c.954+31G>A	rs2130272862
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)	rs202242769
NM_000500.9(CYP21A2):c.503T>C (p.Leu168Pro)
NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)
NM_182977.3(NNT):c.1822G>A (p.Gly608Arg)	rs2111899861

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