ClinVar Miner

List of variants reported as uncertain significance for pituitary gland adenoma by Illumina Laboratory Services, Illumina

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003977.4(AIP):c.166C>T (p.Arg56Cys)	rs267606538	0.00001
NM_003977.4(AIP):c.174G>C (p.Lys58Asn)	rs267606539	0.00001
NM_003977.4(AIP):c.468+3G>A	rs868823652	0.00001
NM_003977.4(AIP):c.944A>C (p.Gln315Pro)	rs886048585	0.00001
NM_003977.4(AIP):c.-12C>G	rs551077555
NM_003977.4(AIP):c.-2G>C	rs377710724
NM_003977.4(AIP):c.-85C>T	rs1565180279
NM_003977.4(AIP):c.102C>G (p.Ala34=)	rs886048584
NM_003977.4(AIP):c.249G>A (p.Gly83=)	rs104895072
NM_003977.4(AIP):c.379A>G (p.Met127Val)	rs1591044815
NM_003977.4(AIP):c.660C>T (p.Ser220=)	rs776495655

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