ClinVar Miner

List of variants in gene KDR studied for colorectal carcinoma

Included ClinVar conditions (14):

Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Malignant tumor of testis; Carcinoma of colon
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma
Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Carcinoma of colon; Nonpapillary renal cell carcinoma
Carcinoma of colon
Colon adenocarcinoma
Colorectal carcinoma
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma
Familial cancer of breast; Lung carcinoma; Malignant tumor of prostate; Carcinoma of colon
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Neoplasm of ovary; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma
Medulloblastoma; Pilomatrixoma; Neoplasm of ovary; Carcinoma of colon; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Exudative vitreoretinopathy 7
Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Carcinoma of colon
Oligodontia-cancer predisposition syndrome; Carcinoma of colon
Rectum adenocarcinoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal carcinoma

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002253.4(KDR):c.3405-4C>T	rs370501217	0.00002
NM_002253.4(KDR):c.2380G>A (p.Gly794Arg)	rs795902896
NM_002253.4(KDR):c.2509+20T>A	rs795902897
NM_002253.4(KDR):c.2510-27del	rs795902898
NM_002253.4(KDR):c.2544G>T (p.Val848=)	rs795902899
NM_002253.4(KDR):c.2598A>C (p.Ala866=)	rs795939486
NM_002253.4(KDR):c.2615-23C>T	rs778886056
NM_002253.4(KDR):c.2656C>A (p.Leu886Ile)	rs794729676
NM_002253.4(KDR):c.2676T>A (p.Ile892=)	rs794729677
NM_002253.4(KDR):c.2705T>A (p.Leu902Gln)	rs794729678
NM_002253.4(KDR):c.2721G>C (p.Lys907Asn)	rs200773668
NM_002253.4(KDR):c.3441C>G (p.Pro1147=)	rs795939487
NM_002253.4(KDR):c.3465G>A (p.Glu1155=)	rs795939488
NM_002253.4(KDR):c.3487C>T (p.Leu1163Phe)	rs761176323

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