ClinVar Miner

List of variants in gene combination C10orf105, CDH23 reported as uncertain significance 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)	rs201877610	0.00026
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)	rs373276722	0.00016
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)	rs200632520	0.00009
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)	rs111033509	0.00008
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)	rs202204597	0.00003
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)	rs1295355040	0.00002
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala)	rs759990271	0.00001
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)	rs371962929
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
NM_022124.6(CDH23):c.4209+1G>T	rs727503841

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