ClinVar Miner

List of variants in gene MET studied for hepatobiliary neoplasm

Included ClinVar conditions (25):

Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
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
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Familial pancreatic carcinoma; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Bile duct cancer
Caudal duplication; Hepatocellular carcinoma
Cholangiocarcinoma
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma
Familial cancer of breast; Autoimmune lymphoproliferative syndrome type 2B; Hepatocellular carcinoma; Lung cancer
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer
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
Gallbladder cancer
Gallbladder carcinoma
Hepatic adenomas, familial
Hepatic hemangioma
Hepatoblastoma
Hepatocellular carcinoma
Intrahepatic cholangiocarcinoma
Klatskin tumor
Medulloblastoma; Pilomatrixoma; Ovarian cancer; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Carcinoma of colon; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7
Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97
Pediatric hepatocellular 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: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000245.4(MET):c.948A>G (p.Ile316Met)	rs35225896	0.00641
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)	rs199771406	0.00188
NM_000245.4(MET):c.406G>A (p.Val136Ile)	rs199701987	0.00058
NM_000245.4(MET):c.2684C>T (p.Thr895Met)	rs199502137	0.00011
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)	rs374733251	0.00008
NM_000245.4(MET):c.1862C>T (p.Thr621Ile)	rs375951814	0.00007
NM_000245.4(MET):c.818C>A (p.Thr273Asn)	rs368144654	0.00006
NM_000245.4(MET):c.142G>A (p.Ala48Thr)	rs374050750	0.00004
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)	rs768188910	0.00004
NM_000245.4(MET):c.2555T>A (p.Met852Lys)	rs369758288	0.00003
NM_000245.4(MET):c.762A>C (p.Glu254Asp)	rs760278126	0.00003
NM_000245.4(MET):c.1081G>T (p.Ala361Ser)	rs786202310	0.00002
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser)	rs765332671	0.00002
NM_000245.4(MET):c.1336A>G (p.Ile446Val)	rs779022887	0.00001
NM_000245.4(MET):c.143C>G (p.Ala48Gly)	rs80256822	0.00001
NM_000245.4(MET):c.1444G>A (p.Asp482Asn)	rs863224694	0.00001
NM_000245.4(MET):c.446A>G (p.Asn149Ser)	rs772398152	0.00001
NM_000245.4(MET):c.1157T>G (p.Leu386Arg)	rs1554379180
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)	rs886061943
NM_000245.4(MET):c.1933G>A (p.Gly645Arg)	rs763849125
NM_000245.4(MET):c.2191C>T (p.Arg731Ter)	rs377336878
NM_000245.4(MET):c.2375A>G (p.His792Arg)	rs980467681
NM_000245.4(MET):c.2893G>A (p.Gly965Ser)	rs1413209214
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile)	rs121913675
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg)	rs121913677
NM_000245.4(MET):c.3750G>A (p.Met1250Ile)	rs121913676
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)	rs370767911
NM_000245.4(MET):c.799G>A (p.Glu267Lys)	rs755954919

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