ClinVar Miner

List of variants studied for Colorectal cancer, susceptibility to, 12 by Counsyl

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ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_006231.4(POLE):c.3265_3275+15dup rs1555225627 0.00913
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_006231.4(POLE):c.1470C>T (p.Asp490=) rs5744777 0.00679
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_006231.4(POLE):c.5811+16T>C rs115381003 0.00423
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_006231.4(POLE):c.5811+13C>T rs150195182 0.00190
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_006231.4(POLE):c.63-14C>T rs373998767 0.00048
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.5379-19C>T rs376722984 0.00023
NM_006231.4(POLE):c.3378+10A>G rs193075152 0.00019
NM_006231.4(POLE):c.6532-19G>T rs201114228 0.00019
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_006231.4(POLE):c.1226+13G>A rs577646338 0.00011
NM_006231.4(POLE):c.4291-11G>A rs369564167 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_006231.4(POLE):c.2174-11G>A rs111570840 0.00009
NM_006231.4(POLE):c.4005+20G>A rs775205537 0.00009
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_006231.4(POLE):c.1478del (p.Leu493fs) rs760070332 0.00006
NM_006231.4(POLE):c.1687-16C>G rs530732187 0.00006
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser) rs751451482 0.00005
NM_006231.4(POLE):c.4952+11T>A rs779889181 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.1924-6T>C rs755311168 0.00004
NM_006231.4(POLE):c.2174-15C>T rs750771177 0.00004
NM_006231.4(POLE):c.2468+19G>A rs768950827 0.00004
NM_006231.4(POLE):c.3275+16A>G rs5744858 0.00004
NM_006231.4(POLE):c.3379-18C>T rs1057517632 0.00004
NM_006231.4(POLE):c.4149+12C>G rs566422403 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.4952+17C>T rs750268044 0.00004
NM_006231.4(POLE):c.5174-6G>C rs770466844 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg) rs757186755 0.00003
NM_006231.4(POLE):c.138del (p.Leu46fs) rs1555230420 0.00003
NM_006231.4(POLE):c.1641C>A (p.Leu547=) rs267603387 0.00003
NM_006231.4(POLE):c.1795-14C>T rs369023182 0.00003
NM_006231.4(POLE):c.2276G>A (p.Arg759His) rs746774432 0.00003
NM_006231.4(POLE):c.424-10C>T rs748433747 0.00003
NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys) rs766511597 0.00003
NM_006231.4(POLE):c.5173+10C>T rs371098994 0.00003
NM_006231.4(POLE):c.1055A>C (p.Gln352Pro) rs766094330 0.00002
NM_006231.4(POLE):c.3379-17G>A rs907214942 0.00002
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006231.4(POLE):c.6532-11G>C rs372829291 0.00002
NM_006231.4(POLE):c.850A>G (p.Lys284Glu) rs568483856 0.00002
NM_006231.4(POLE):c.909+20G>A rs750593090 0.00002
NM_006231.4(POLE):c.1309G>A (p.Val437Met) rs115047349 0.00001
NM_006231.4(POLE):c.1360-20C>G rs781212006 0.00001
NM_006231.4(POLE):c.1378G>A (p.Val460Met) rs753586583 0.00001
NM_006231.4(POLE):c.1420G>A (p.Val474Ile) rs980578884 0.00001
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs) rs1060500792 0.00001
NM_006231.4(POLE):c.1524G>T (p.Gln508His) rs762030811 0.00001
NM_006231.4(POLE):c.2562-5T>G rs1461925348 0.00001
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr) rs770470552 0.00001
NM_006231.4(POLE):c.2707-9G>A rs1057521516 0.00001
NM_006231.4(POLE):c.3061-12G>C rs779496994 0.00001
NM_006231.4(POLE):c.3378+15C>T rs574954983 0.00001
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter) rs151278283 0.00001
NM_006231.4(POLE):c.4150-13G>A rs780409701 0.00001
NM_006231.4(POLE):c.423+20T>C rs201628896 0.00001
NM_006231.4(POLE):c.424-2A>G rs1555230117 0.00001
NM_006231.4(POLE):c.5174-17G>A rs201254290 0.00001
NM_006231.4(POLE):c.5379-5T>C rs761910924 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006231.4(POLE):c.775C>T (p.Arg259Cys) rs777638541 0.00001
NM_006231.4(POLE):c.796C>T (p.Arg266Ter) rs767666219 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.4(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.4(POLE):c.1106+7C>A rs369889926
NM_006231.4(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.4(POLE):c.1181del (p.Gln394fs) rs764289504
NM_006231.4(POLE):c.1227-2A>T rs1057517609
NM_006231.4(POLE):c.1284del (p.Lys429fs) rs1057517613
NM_006231.4(POLE):c.1473+19G>A rs1057517628
NM_006231.4(POLE):c.1474-13G>A rs1555228383
NM_006231.4(POLE):c.1687-13A>G rs527311638
NM_006231.4(POLE):c.1924-23_1927del rs1064795679
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2026+14G>T rs751509566
NM_006231.4(POLE):c.2027-16A>G rs1057517614
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2174-12C>G rs192222479
NM_006231.4(POLE):c.2320-9G>T rs769834031
NM_006231.4(POLE):c.2340GGC[1] (p.Ala782del) rs1064796065
NM_006231.4(POLE):c.2468+2dup rs1555226665
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.4(POLE):c.2932dup (p.Glu978fs) rs1032311596
NM_006231.4(POLE):c.2T>G (p.Met1Arg) rs879254126
NM_006231.4(POLE):c.3275+12_3275+37dup rs1057517627
NM_006231.4(POLE):c.3275+14C>G rs368185422
NM_006231.4(POLE):c.3338G>A (p.Trp1113Ter) rs1461016090
NM_006231.4(POLE):c.3459+2T>C rs1057517634
NM_006231.4(POLE):c.3629dup (p.Pro1210_Asp1211insTer) rs1555224111
NM_006231.4(POLE):c.3669AGC[3] (p.Ala1225dup) rs750939989
NM_006231.4(POLE):c.4150-12T>C rs551697046
NM_006231.4(POLE):c.4244A>G (p.Asn1415Ser) rs748378612
NM_006231.4(POLE):c.448C>T (p.Arg150Ter) rs775815329
NM_006231.4(POLE):c.4631dup (p.Leu1545fs) rs1555222731
NM_006231.4(POLE):c.4728+14_4728+21del rs1311664292
NM_006231.4(POLE):c.4729-16dup rs1057517615
NM_006231.4(POLE):c.4823T>G (p.Leu1608Arg) rs1255478620
NM_006231.4(POLE):c.4952+13C>T rs1057517612
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006231.4(POLE):c.4952+20_4952+22del rs752389775
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.5679-14T>C rs1555221517
NM_006231.4(POLE):c.5965del (p.Ala1989fs) rs1555221193
NM_006231.4(POLE):c.6236_6254del (p.Asn2079fs) rs765923256
NM_006231.4(POLE):c.6379C>T (p.Arg2127Ter) rs1057517583
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs) rs774417192
NM_006231.4(POLE):c.6532-21_6532-20del rs1555301127
NM_006231.4(POLE):c.6585CTC[1] (p.Ser2197del) rs1188033351
NM_006231.4(POLE):c.6658-12G>C rs1555300850
NM_006231.4(POLE):c.6658-19C>G rs5745081
NM_006231.4(POLE):c.6658-1G>A rs1555300846
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.4(POLE):c.721-13GT[2] rs752682384
NM_006231.4(POLE):c.778C>T (p.Arg260Ter) rs747946229
NM_006231.4(POLE):c.7C>G (p.Leu3Val) rs1018143132
NM_006231.4(POLE):c.802-1G>C rs1555229470

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