ClinVar Miner

List of variants reported as likely benign for Carcinoma of colon

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ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_002691.4(POLD1):c.1761C>T (p.Ile587=) rs3218755 0.00976
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_000038.6(APC):c.1825G>A (p.Val609Ile) rs147863331 0.00096
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=) rs34490141 0.00096
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00094
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) rs201483538 0.00046
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.264+11G>A rs139977567 0.00044
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_002691.4(POLD1):c.3068-14C>T rs3218758 0.00041
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_006231.4(POLE):c.5496T>C (p.Leu1832=) rs147543146 0.00029
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_002691.4(POLD1):c.624G>A (p.Pro208=) rs78996304 0.00025
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00023
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261 0.00019
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000465.4(BARD1):c.1203T>C (p.Ser401=) rs370553043 0.00014
NM_000179.3(MSH6):c.102C>A (p.Ala34=) rs201132087 0.00013
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser) rs34014629 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000038.6(APC):c.3786T>C (p.Tyr1262=) rs147411334 0.00009
NM_001048174.2(MUTYH):c.606+14C>G rs752537118 0.00009
NM_002691.4(POLD1):c.1686+10C>T rs372652150 0.00008
NM_000038.6(APC):c.3624C>T (p.Thr1208=) rs730882125 0.00007
NM_000051.4(ATM):c.3403-14A>G rs941737393 0.00007
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704 0.00006
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys) rs544222338 0.00006
NM_000038.6(APC):c.3876G>A (p.Thr1292=) rs377494451 0.00004
NM_000038.6(APC):c.6135C>T (p.Ser2045=) rs187297940 0.00004
NM_000179.3(MSH6):c.2271C>T (p.Thr757=) rs142172006 0.00004
NM_000179.3(MSH6):c.3557-3A>T rs41295274 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_002691.4(POLD1):c.841-10A>G rs140160345 0.00003
NM_000179.3(MSH6):c.354A>G (p.Thr118=) rs558590898 0.00002
NM_000251.3(MSH2):c.1200C>G (p.Asn400Lys) rs1301023135 0.00002
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg) rs563990655 0.00002
NM_006231.4(POLE):c.5481G>A (p.Ser1827=) rs775867327 0.00002
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00001
NM_000038.6(APC):c.5901C>T (p.Ser1967=) rs1561603572 0.00001
NM_000051.4(ATM):c.478T>C (p.Ser160Pro) rs761170769 0.00001
NM_000051.4(ATM):c.6199-6G>A rs1555114529 0.00001
NM_000059.4(BRCA2):c.441A>G (p.Gln147=) rs80358676 0.00001
NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys) rs587779205 0.00001
NM_000179.3(MSH6):c.2391C>T (p.Asp797=) rs754870044 0.00001
NM_000179.3(MSH6):c.2526T>G (p.Ala842=) rs772394197 0.00001
NM_000179.3(MSH6):c.3255C>G (p.Thr1085=) rs371568610 0.00001
NM_000179.3(MSH6):c.4002-8A>C rs778957100 0.00001
NM_000179.3(MSH6):c.668A>G (p.Asn223Ser) rs587779316 0.00001
NM_000249.4(MLH1):c.2103+6G>T rs1057521607 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000314.8(PTEN):c.210-12C>T rs766570103 0.00001
NM_000455.5(STK11):c.480G>T (p.Leu160=) rs1176365465 0.00001
NM_001048174.2(MUTYH):c.1380C>T (p.Thr460=) rs373973053 0.00001
NM_002691.4(POLD1):c.2820+12C>T rs567217817 0.00001
NM_004329.3(BMPR1A):c.1296C>T (p.Ser432=) rs1060504907 0.00001
NM_006231.4(POLE):c.1795-13G>A rs749522265 0.00001
NM_000038.6(APC):c.6081C>T (p.Leu2027=) rs1316220949
NM_000038.6(APC):c.620G>A (p.Cys207Tyr) rs1268298845
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000051.4(ATM):c.7629+13G>A rs563651647
NM_000179.3(MSH6):c.1180T>G (p.Ser394Ala) rs1553412587
NM_000179.3(MSH6):c.1890A>C (p.Ala630=) rs1468271394
NM_000179.3(MSH6):c.3300G>C (p.Thr1100=) rs540252208
NM_000179.3(MSH6):c.4001+11_4001+19del rs2104569281
NM_000249.4(MLH1):c.1573T>C (p.Leu525=) rs63750137
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000251.3(MSH2):c.1497A>G (p.Ala499=) rs1357985821
NM_000251.3(MSH2):c.2005+8dup rs267607992
NM_000251.3(MSH2):c.367-28A>G rs748645813
NM_000314.8(PTEN):c.450G>A (p.Glu150=) rs757777398
NM_000455.5(STK11):c.1041G>A (p.Ala347=) rs537906142
NM_000455.5(STK11):c.734+14C>A rs763346212
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_002691.4(POLD1):c.3218+9_3218+10inv
NM_002691.4(POLD1):c.463+8_463+9delinsTT rs796285537
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_007294.4(BRCA1):c.1431A>G (p.Val477=) rs2154446463
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268

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