ClinVar Miner

List of variants in gene MEN1 studied for pituitary gland adenoma

Included ClinVar conditions (14):

Acroleukopathy, symmetric; Pituitary dependent hypercortisolism; Somatotroph adenoma
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types
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
Familial isolated pituitary adenoma
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
Pituitary adenoma 3, multiple types
Pituitary adenoma 5, multiple types
Pituitary adenoma predisposition
Pituitary adenoma, growth hormone-secreting, 2
Pituitary dependent hypercortisolism
Pituitary dependent hypercortisolism; Somatotroph adenoma
Prolactin-producing pituitary gland adenoma; High myopia
Somatotroph adenoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001370259.2(MEN1):c.*470A>G	rs778272737	0.00048
NM_001370259.2(MEN1):c.913-42G>C	rs529037188	0.00013
NM_001370259.2(MEN1):c.*412G>A	rs972128957	0.00003
NM_001370259.2(MEN1):c.784-129T>A	rs536461697	0.00001
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=)	rs577268289
NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg)	rs1565635212
NM_001370259.2(MEN1):c.913-79T>A

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