ClinVar Miner

List of variants in gene CDH23 reported as benign 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
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_022124.6(CDH23):c.146-125T>C	rs2297953	0.74120
NM_022124.6(CDH23):c.1134+164C>G	rs7903772	0.61986
NM_022124.6(CDH23):c.1135-128A>G	rs10823810	0.51167
NM_022124.6(CDH23):c.832+101G>A	rs6480531	0.42446
NM_022124.6(CDH23):c.5187+99T>C	rs10762481	0.39527
NM_022124.6(CDH23):c.624+64C>T	rs7087735	0.34986
NM_022124.6(CDH23):c.7055-16A>G	rs4747193	0.34615
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)	rs1227049	0.20047
NM_022124.6(CDH23):c.1449+130T>C	rs2305209	0.14152
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)	rs41281330	0.01037
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)	rs74145660

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