ClinVar Miner

Variants studied for Hepatocellular carcinoma

Coded as:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele other total
18 264 8 1 1 2 1 291

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele other total
TP53 2 157 0 0 0 0 0 159
CTNNB1, LOC126806658 2 28 0 0 0 0 0 28
PIK3CA 3 17 0 0 0 0 0 18
HRAS, LRRC56 0 10 0 0 0 0 0 10
CDKN2A 0 4 0 0 1 0 0 5
IDH1 0 5 0 0 0 0 0 5
NRAS 0 5 0 0 0 0 0 5
CREBBP 0 4 0 0 0 0 0 4
IDH2 0 4 0 0 0 0 0 4
NFE2L2 0 4 0 0 0 0 0 4
TERT 2 0 2 0 0 0 0 4
APC 1 0 2 0 0 0 0 3
AXIN1 1 0 2 0 0 0 0 3
CTNNB1 2 0 0 1 0 0 0 3
GNAS 0 3 0 0 0 0 0 3
IGF2R 2 0 1 0 0 0 0 3
RAD50 0 3 0 0 0 0 0 3
VDR 0 1 0 0 0 2 0 3
CNOT9 0 2 0 0 0 0 0 2
CTNNB1, LOC126806659 1 1 0 0 0 0 0 2
FGFR1 0 2 0 0 0 0 0 2
IGF2R, LOC129997612 0 1 1 0 0 0 0 2
KRAS 0 2 0 0 0 0 0 2
RXRA 0 2 0 0 0 0 0 2
SF3B1 0 2 0 0 0 0 0 2
AKT1 0 1 0 0 0 0 0 1
CASP8 1 0 0 0 0 0 0 1
FH 0 1 0 0 0 0 0 1
LOC110806263, TERT 0 1 0 0 0 0 0 1
NBN 0 1 0 0 0 0 0 1
PDGFRL 1 0 0 0 0 0 0 1
PMS2 0 1 0 0 0 0 0 1
RET 0 1 0 0 0 0 0 1
SET 0 0 0 0 0 0 1 1
SF3B2 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele other total
Database of Curated Mutations (DoCM) 0 253 0 0 0 0 0 253
OMIM 13 0 0 0 0 0 0 13
CZECANCA consortium 0 7 0 0 0 0 0 7
Mendelics 3 1 0 1 0 0 0 5
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan 2 1 2 0 0 0 0 5
Bioengineering and Technology, Gauhati University 0 1 0 0 0 2 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 0 2
3DMed Clinical Laboratory Inc 0 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 1

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