ClinVar Miner

List of variants reported as pathogenic for Cushing syndrome due to macronodular adrenal hyperplasia by Fulgent Genetics, Fulgent Genetics

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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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.1A>G (p.Met1Val)	rs137854530
NM_000516.7(GNAS):c.348dup (p.Val117fs)	rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	rs797045046
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	rs1601162438
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	rs1057518907
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)	rs2089384365

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