ClinVar Miner

List of variants studied for carcinoma of liver and intrahepatic biliary tract by OMIM

Included ClinVar conditions (17):

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
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
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; Neoplasm of ovary; 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; Neoplasm of ovary; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma
Hepatoblastoma
Hepatocellular carcinoma
Intrahepatic cholangiocarcinoma
Klatskin tumor
Medulloblastoma; Pilomatrixoma; Neoplasm of ovary; Carcinoma of colon; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Neoplasm of ovary; 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
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_000038.6(APC):c.1695del (p.Val566fs)	rs397514032
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys)	rs137854578
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_000546.6(TP53):c.469G>T (p.Val157Phe)	rs121912654
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	rs28934573
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)	rs28934571
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val)	rs121434587
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu)	rs121434588
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs)	rs587776665
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)	rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)	rs121913412
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)	rs121913407
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)	rs121913409
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)	rs28931588
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs)	rs587776627
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)	rs121913274
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs)	rs587776802
PDGRL, 2-BP DEL

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