ClinVar Miner

List of variants in gene ARMC5 reported as uncertain significance for Cushing syndrome due to macronodular adrenal hyperplasia

Included ClinVar conditions (6):

ACTH-independent macronodular adrenal hyperplasia 1
ACTH-independent macronodular adrenal hyperplasia 2
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types
Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Somatotroph adenoma; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia
McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001105247.2(ARMC5):c.2192C>G (p.Pro731Arg)	rs200951744	0.00172
NM_001105247.2(ARMC5):c.1864+198T>A	rs150981686	0.00129
NM_001105247.2(ARMC5):c.1777C>T (p.Arg593Trp)	rs587777662	0.00002
NM_001105247.2(ARMC5):c.2657G>A (p.Arg886His)	rs752232472	0.00001
NM_001105247.2(ARMC5):c.1000C>T (p.Arg334Cys)
NM_001105247.2(ARMC5):c.2548G>T (p.Glu850Ter)
NM_001105247.2(ARMC5):c.583G>C (p.Gly195Arg)

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