ClinVar Miner

List of variants reported as not provided for colonic neoplasm

Included ClinVar conditions (19):

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
Adenomatous colonic polyposis
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
Colon cancer
Colonic neoplasm
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Adenomatous polyp of colon
Colorectal polyposis; Colonic neoplasm
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; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma
Gastric polyposis; Duodenal polyposis; Adenomatous colonic polyposis; Intestinal polyp; Hyperplastic colonic polyposis
Malignant tumor of ascending colon
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; 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
Sigmoid colon cancer

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)
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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_002019.4(FLT1):c.2901G>A (p.Ala967=)	rs56314249	0.03272
NM_002691.4(POLD1):c.367C>T (p.Pro123Ser)	rs761127022	0.00002
NM_002019.4(FLT1):c.2654_2655insA (p.Gly886fs)	rs555490448
NM_002019.4(FLT1):c.2708-29A>C	rs558381447
NM_002019.4(FLT1):c.2708-39G>C	rs537105078
NM_002019.4(FLT1):c.2871A>T (p.Leu957=)	rs148695719
NM_002019.4(FLT1):c.3042_3043insA (p.Ser1015fs)	rs573848371
NM_002019.4(FLT1):c.3175-69A>T	rs576912997
NM_002019.4(FLT1):c.3204T>C (p.Pro1068=)	rs2296189
NM_002019.4(FLT1):c.3287-16A>C	rs537403174
NM_002019.4(FLT1):c.3329G>C (p.Cys1110Ser)	rs730882263

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