ClinVar Miner

Variants studied for Squamous cell carcinoma of the head and neck

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 drug response total
19 337 9 14 6 6 385

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign drug response total
TP53 14 184 6 13 6 0 217
PIK3CA 0 42 0 0 0 0 42
FBXW7 0 15 0 0 0 0 15
EGFR 0 6 0 0 0 6 12
CDKN2A 0 10 0 0 0 0 10
HRAS, LRRC56 0 9 0 0 0 0 9
NFE2L2 0 8 0 0 0 0 8
BRAF 0 7 0 0 0 0 7
B2M 0 5 0 0 0 0 5
PTEN 1 4 0 0 0 0 5
RHOA 0 5 0 0 0 0 5
CREBBP 0 4 0 0 0 0 4
CTNNB1, LOC126806658 0 4 0 0 0 0 4
SMAD4 0 4 0 0 0 0 4
GNAS 0 3 0 0 0 0 3
IDH2 0 3 0 0 0 0 3
ING1 3 0 0 0 0 0 3
PPP2R1A 0 3 0 0 0 0 3
RAC1 0 3 0 0 0 0 3
EP300 0 2 0 0 0 0 2
ERBB2 0 2 0 0 0 0 2
FGFR3 0 2 0 0 0 0 2
H3C11 0 2 0 0 0 0 2
LOC126862483, TP53, WRAP53 0 0 1 1 0 0 2
MAP2K1 0 2 0 0 0 0 2
MAP2K2 0 2 0 0 0 0 2
TNFRSF10B 1 1 0 0 0 0 2
U2AF1 0 2 0 0 0 0 2
AKT1 0 1 0 0 0 0 1
DPYD 0 1 0 0 0 0 1
KEAP1 0 0 1 0 0 0 1
MAPK1 0 1 0 0 0 0 1
POLR1C, SLC29A1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Database of Curated Mutations (DoCM) 0 330 0 0 0 0 330
Mendelics 2 8 7 13 6 0 36
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo 12 1 0 1 0 0 14
Genetics, Bhagwan Mahavir Medical Research Centre 0 0 0 0 0 6 6
OMIM 5 0 0 0 0 0 5
Genome Sciences Centre, British Columbia Cancer Agency 0 1 2 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1

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