ClinVar Miner

List of variants reported as pathogenic for Colorectal cancer by Genomic Center, National Cancer Institute

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3753_3754del (p.Ser1252fs) rs1765511794
NM_000038.6(APC):c.6907G>T (p.Gly2303Ter) rs544549596
NM_000051.4(ATM):c.1238del (p.Leu413fs) rs2080088451
NM_000051.4(ATM):c.4143del (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.8101del (p.Lys2700_Ile2701insTer) rs2086682689
NM_000057.4(BLM):c.2680del (p.Tyr894fs) rs1896706358
NM_000057.4(BLM):c.3600del (p.Lys1200fs) rs1897233241
NM_000059.4(BRCA2):c.2312del (p.Ile770_Leu771insTer)
NM_000059.4(BRCA2):c.9800del (p.Lys3267fs) rs1566261027
NM_000141.5(FGFR2):c.1672+1del rs1847174277
NM_000179.3(MSH6):c.2079del (p.Lys693fs) rs267608083
NM_000245.4(MET):c.2855del (p.Phe952fs) rs1794836064
NM_000251.3(MSH2):c.43del (p.Ala15fs) rs1672233572
NM_000346.4(SOX9):c.710del (p.Pro237fs) rs1567911132
NM_000534.5(PMS1):c.2766del (p.His923fs) rs2057666079
NM_000612.6(IGF2):c.520_521insC (p.Glu174fs) rs1858717597
NM_001040108.2(MLH3):c.2788del (p.Thr930fs) rs775277584
NM_001048174.2(MUTYH):c.1562del (p.Gln521fs) rs1644340673
NM_001130158.3(MYO1B):c.2775del (p.Lys925fs) rs1697225194
NM_001349798.2(FBXW7):c.256del (p.Ser86fs) rs1737970426
NM_001382548.1(TCERG1):c.192del (p.Pro65fs) rs1762720125
NM_001903.5(CTNNA1):c.1045del (p.Ser349fs) rs2149786068
NM_001903.5(CTNNA1):c.1526_1527insC (p.Asp509_Asp510insTer) rs1762133912
NM_001903.5(CTNNA1):c.2043del (p.Ala682fs) rs2150334022
NM_001903.5(CTNNA1):c.2600del (p.Lys867fs) rs2150359552
NM_001903.5(CTNNA1):c.297del (p.Lys99fs) rs2149656983
NM_002691.4(POLD1):c.66_67insG (p.Trp23fs) rs2038473235
NM_004006.3(DMD):c.1713del (p.Phe571fs) rs1601808932
NM_004006.3(DMD):c.2920del (p.Ile974fs) rs2040714896
NM_004006.3(DMD):c.4072-267del rs753288164
NM_004360.5(CDH1):c.1955del (p.Ile651_Leu652insTer) rs1961224452
NM_004448.4(ERBB2):c.1610del (p.Gly537fs) rs2059127438
NM_004448.4(ERBB2):c.3484_3485insG (p.Pro1162fs) rs2059860543
NM_005215.4(DCC):c.947del (p.Asn316fs) rs2040184914
NM_005359.6(SMAD4):c.1241del (p.Tyr413_Leu414insTer) rs1910183166
NM_006015.6(ARID1A):c.4689del (p.Pro1563_Met1564insTer) rs2081119463
NM_006015.6(ARID1A):c.5715del (p.Lys1905fs) rs2081171632
NM_006218.4(PIK3CA):c.685del (p.Thr229fs) rs1724405916
NM_006231.4(POLE):c.2330del (p.Lys777fs) rs2042774602
NM_007294.4(BRCA1):c.1378del (p.Ile460fs)
NM_007294.4(BRCA1):c.1439del (p.Asn480fs)
NM_017412.4(FZD3):c.888del (p.Phe296fs) rs765036679
NM_018723.4(RBFOX1):c.406del (p.Met136fs) rs2093621567
NM_020975.6(RET):c.99_100del (p.Asp34fs) rs1837613320
NM_024675.4(PALB2):c.1179del (p.Lys393fs) rs1567221417
NM_152424.4(AMER1):c.2422_2423insG (p.Thr808fs) rs1930230724
NM_152424.4(AMER1):c.3226A>T (p.Lys1076Ter) rs1930207901
NM_152424.4(AMER1):c.640del (p.Val214fs) rs1930277434
NM_173653.4(SLC9A9):c.587del (p.Asn196fs) rs1933531491
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) rs1289537429

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