ClinVar Miner

Variants studied for head and neck squamous cell carcinoma

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 association drug response total
19 337 10 14 6 4 6 390

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association drug response total
TP53 14 184 6 13 6 0 0 217
PIK3CA 0 42 0 0 0 0 0 42
FBXW7 0 15 0 0 0 0 0 15
EGFR 0 6 0 0 0 0 6 12
CDKN2A 0 10 0 0 0 0 0 10
HRAS, LRRC56 0 9 0 0 0 0 0 9
NFE2L2 0 8 0 0 0 0 0 8
BRAF 0 7 0 0 0 0 0 7
PTEN 1 4 1 0 0 0 0 6
B2M 0 5 0 0 0 0 0 5
RHOA 0 5 0 0 0 0 0 5
CREBBP 0 4 0 0 0 0 0 4
CTNNB1, LOC126806658 0 4 0 0 0 0 0 4
SMAD4 0 4 0 0 0 0 0 4
XRCC1 0 0 0 0 0 4 0 4
GNAS 0 3 0 0 0 0 0 3
IDH2 0 3 0 0 0 0 0 3
ING1 3 0 0 0 0 0 0 3
PPP2R1A 0 3 0 0 0 0 0 3
RAC1 0 3 0 0 0 0 0 3
EP300 0 2 0 0 0 0 0 2
ERBB2 0 2 0 0 0 0 0 2
FGFR3 0 2 0 0 0 0 0 2
H3C11 0 2 0 0 0 0 0 2
LOC126862483, TP53, WRAP53 0 0 1 1 0 0 0 2
MAP2K1 0 2 0 0 0 0 0 2
MAP2K2 0 2 0 0 0 0 0 2
TNFRSF10B 1 1 0 0 0 0 0 2
U2AF1 0 2 0 0 0 0 0 2
AKT1 0 1 0 0 0 0 0 1
DPYD 0 1 0 0 0 0 0 1
KEAP1 0 0 1 0 0 0 0 1
MAPK1 0 1 0 0 0 0 0 1
POLR1C, SLC29A1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association drug response total
Database of Curated Mutations (DoCM) 0 330 0 0 0 0 0 330
Mendelics 2 8 7 13 6 0 0 36
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo 12 1 0 1 0 0 0 14
Genetics, Bhagwan Mahavir Medical Research Centre 0 0 0 0 0 0 6 6
OMIM 5 0 0 0 0 0 0 5
Department Of Otolaryngology, First Affiliated Hospital Of Xinjiang Medical University 0 0 0 0 0 4 0 4
Genome Sciences Centre, British Columbia Cancer Agency 0 1 2 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 1

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