ClinVar Miner

List of variants reported as likely pathogenic for Cushing syndrome due to macronodular adrenal hyperplasia by Department of Hematologic Diagnostics and Genetics, Jagiellonian University Hospital in Krakow

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001105247.2(ARMC5):c.1724_1753delinsAT (p.Cys575fs)	rs2142575218

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