ClinVar Miner

List of variants in gene KIT studied for dermis disorder

Included ClinVar conditions (24):

Amyloidosis, primary localized cutaneous, 1
Amyloidosis, primary localized cutaneous, 2
Amyloidosis, primary localized cutaneous, 3
Aplasia cutis congenita
Aplasia cutis congenita; Small nail; Hypermelanotic macule; Hypoplastic toenails; Pterygium of nails; Hyperpigmented/hypopigmented macules; Punctate palmoplantar hyperkeratosis; Aplasia/Hypoplasia of the nails; Aplastic/hypoplastic toenail; Mild global developmental delay
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
Cutaneous mastocytosis
Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis
Gastrointestinal stromal tumor; Piebaldism; Cutaneous mastocytosis
Hyaline fibromatosis syndrome
Isolated anhidrosis with normal sweat glands
Linear skin defects with multiple congenital anomalies 1
Linear skin defects with multiple congenital anomalies 1; Linear skin defects with multiple congenital anomalies 3; Mitochondrial complex I deficiency, nuclear type 1
Linear skin defects with multiple congenital anomalies 2
Linear skin defects with multiple congenital anomalies 3
Lipid proteinosis
MASTOCYTOSIS, SYSTEMIC, SOMATIC
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
Progressive osseous heteroplasia
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A
Scalp-ear-nipple syndrome
Uterine leiomyoma; Cutaneous leiomyoma

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000222.3(KIT):c.2502G>A (p.Lys834=)	rs146992614	0.00014
NM_000222.3(KIT):c.840G>C (p.Ala280=)	rs142772432	0.00004
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)	rs587778433	0.00002
NM_000222.3(KIT):c.531C>T (p.Arg177=)	rs756722358	0.00001
NM_000222.3(KIT):c.1598C>A (p.Ala533Asp)	rs753212327
NM_000222.3(KIT):c.1676T>C (p.Val559Ala)	rs121913517
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)	rs121913507
NM_000222.3(KIT):c.2459A>G (p.Asp820Gly)	rs121913682
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile)	rs993022333
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)	rs1722933723
NM_000222.3(KIT):c.590C>T (p.Ser197Leu)	rs2109674601

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