ClinVar Miner

List of variants reported as likely pathogenic for Colorectal cancer

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met) rs138432305 0.00004
NM_006231.4(POLE):c.2929G>A (p.Gly977Arg) rs142563997 0.00003
NM_170693.3(SGK2):c.380G>A (p.Arg127Gln) rs35187177 0.00003
NM_004655.4(AXIN2):c.1201-2A>G rs775783026 0.00001
NM_004655.4(AXIN2):c.815+1G>A rs781384784 0.00001
NM_006231.4(POLE):c.1346C>T (p.Thr449Met) rs780299012 0.00001
NM_000038.6(APC):c.1682del (p.Lys561fs) rs1554082118
NM_000038.6(APC):c.645+2T>C rs786202351
NM_000059.4(BRCA2):c.7704del (p.Phe2568fs)
NM_000179.3(MSH6):c.2909G>A (p.Trp970Ter)
NM_000546.6(TP53):c.919+1G>T rs1131691039
NM_001358291.2(RMI1):c.1284_1288del (p.Lys428fs) rs764792608
NM_001519.4(BRF1):c.1954G>A (p.Gly652Arg) rs202049411
NM_001903.5(CTNNA1):c.2213del (p.Asn738fs) rs2150336916
NM_001904.4(CTNNB1):c.1296_1298del (p.Tyr432_Lys433delinsTer) rs2078362331
NM_001904.4(CTNNB1):c.1444C>G (p.Gln482Glu) rs1559474557
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile) rs2101742052
NM_004655.4(AXIN2):c.1059+5G>C
NM_004655.4(AXIN2):c.1150G>T (p.Glu384Ter)
NM_004655.4(AXIN2):c.1154T>A (p.Leu385Ter)
NM_004655.4(AXIN2):c.1186C>T (p.Gln396Ter)
NM_004655.4(AXIN2):c.1994del (p.Gly665fs) rs267606674
NM_004655.4(AXIN2):c.2137C>T (p.Gln713Ter) rs2043913790
NM_004655.4(AXIN2):c.2172del (p.Asn725fs)
NM_004655.4(AXIN2):c.666_667del (p.Cys222fs)
NM_004655.4(AXIN2):c.74del (p.Pro25fs)
NM_004655.4(AXIN2):c.816-1G>A
NM_004655.4(AXIN2):c.816-2A>G
NM_004655.4(AXIN2):c.94del (p.Glu32fs)
NM_004655.4(AXIN2):c.973dup (p.Tyr325fs) rs2144500829
NM_005359.6(SMAD4):c.1610A>G (p.Asp537Gly) rs1555687605
NM_006164.5(NFE2L2):c.91G>A (p.Gly31Arg) rs1553488015
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys) rs749415085
NM_006231.4(POLE):c.1187A>G (p.Glu396Gly) rs2136008663
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_152424.4(AMER1):c.3145C>T (p.Arg1049Ter) rs780779666

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