ClinVar Miner

Variants studied for Neoplasm of the large intestine

Coded as:
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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 not provided total
62 352 1 0 0 5 420

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
TP53 0 160 0 0 160
PIK3CA 13 39 0 0 52
KRAS 22 4 0 0 26
BRAF 8 8 0 0 16
FBXW7 0 15 0 0 15
HRAS, LRRC56 0 14 0 1 15
SMAD4 8 7 0 0 15
NRAS 7 7 0 0 14
CTNNB1 0 13 0 0 13
ERBB2 0 10 0 0 10
APC 0 9 0 0 9
PTEN 3 5 0 0 8
IDH2 0 7 0 0 7
MAP2K1 0 6 0 0 6
B2M 0 5 0 0 5
IDH1 0 5 0 0 5
CREBBP 0 4 0 0 4
EGFR 0 1 0 3 4
POLE 0 4 0 0 4
PTPN11 0 4 0 0 4
CDKN2A 0 3 0 0 3
GNAS 0 3 0 0 3
MTOR 0 3 0 0 3
PPP2R1A 0 3 0 0 3
RHOA 0 3 0 0 3
XPO1 0 3 0 0 3
ERBB3 0 2 0 0 2
RAF1 0 2 0 0 2
AKT1 1 0 0 0 1
AKT2 0 1 0 0 1
ATE1, FGFR2, WDR11 0 0 1 0 1
EPHB2 0 1 0 0 1
GSTP1 0 0 0 1 1
PIK3R1 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Database of Curated Mutations (DoCM) 62 352 0 5 419
Genomics and Pathology Services,Washington University in St.Louis 0 0 1 0 1

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