ClinVar Miner

List of variants in gene ARMC5 studied for ACTH-independent Cushing syndrome

Included ClinVar conditions (9):

Acth-independent macronodular adrenal hyperplasia 2
Carney complex, type 1; Pigmented nodular adrenocortical disease, primary, 1; Atrial myxoma, familial; Acrodysostosis 1 with or without hormone resistance
Cushing's syndrome
Cushing's syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; PITUITARY ADENOMA 3, MULTIPLE TYPES
Cushing's syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Somatotroph adenoma; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia
Pigmented nodular adrenocortical disease, primary, 1
Pigmented nodular adrenocortical disease, primary, 2
Pigmented nodular adrenocortical disease, primary, 3
Pigmented nodular adrenocortical disease, primary, 4

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 8

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HGVS	dbSNP
ARMC5, 1-BP DEL, G
NM_001288767.2(ARMC5):c.1084C>T (p.Arg362Ter)	rs369721476
NM_001288767.2(ARMC5):c.1379T>C (p.Leu460Pro)	rs587777663
NM_001288767.2(ARMC5):c.1928T>C (p.Leu643Pro)	rs587777661
NM_001288767.2(ARMC5):c.2047_2051GGCGC[3] (p.Leu686fs)
NM_001288767.2(ARMC5):c.2062C>T (p.Arg688Trp)	rs587777662
NM_001288767.2(ARMC5):c.2977C>T (p.Arg993Trp)	rs587777659
NM_001288767.2(ARMC5):c.541C>T (p.Gln181Ter)	rs587777660

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