ClinVar Miner

List of variants in gene POLE reported by Preventiongenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.3582+17A>G rs5744889 0.97472
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_006231.4(POLE):c.3156G>A (p.Thr1052=) rs5744857 0.53577
NM_006231.4(POLE):c.4530A>G (p.Ala1510=) rs5744944 0.53564
NM_006231.4(POLE):c.6330+15G>A rs5745023 0.49667
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_006231.4(POLE):c.5707C>T (p.Leu1903=) rs5744990 0.15505
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
NM_006231.4(POLE):c.755C>T (p.Ala252Val) rs5744751 0.07688
NM_006231.4(POLE):c.2469-15G>A rs5744833 0.07057
NM_006231.4(POLE):c.4444+4T>A rs5744941 0.05640
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_006231.4(POLE):c.2340G>A (p.Ser780=) rs5744822 0.02051
NM_006231.4(POLE):c.2320-13A>G rs75329753 0.01853
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.6330+18C>T rs5745024 0.01405
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_006231.4(POLE):c.6330+19G>A rs5745025 0.01268
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_006231.4(POLE):c.2928C>T (p.Arg976=) rs5744845 0.00958
NM_006231.4(POLE):c.5583A>C (p.Ser1861=) rs5744972 0.00949
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.6766G>A (p.Gly2256Arg) rs116323660 0.00402
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
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.123G>A (p.Thr41=) rs5744734 0.00320
NM_006231.4(POLE):c.779G>A (p.Arg260Gln) rs5744752 0.00312
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_006231.4(POLE):c.2106G>T (p.Gly702=) rs5744801 0.00198
NM_006231.4(POLE):c.5811+13C>T rs150195182 0.00190
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_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_006231.4(POLE):c.1360-6C>T rs139836643 0.00101
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00094
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_006231.4(POLE):c.4534G>A (p.Val1512Ile) rs147354120 0.00053
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala) rs5744948 0.00049
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
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.*18G>T rs573406234 0.00034
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
NM_006231.4(POLE):c.5496T>C (p.Leu1832=) rs147543146 0.00029
NM_006231.4(POLE):c.4941C>T (p.Phe1647=) rs145639967 0.00027
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser) rs137860861 0.00024
NM_006231.4(POLE):c.3379-12C>T rs187618435 0.00023
NM_006231.4(POLE):c.5379-19C>T rs376722984 0.00023
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu) rs546499094 0.00022
NM_006231.4(POLE):c.519C>T (p.Ala173=) rs187690610 0.00021
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.5173+18C>T rs201587262 0.00017
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr) rs115193764 0.00015
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00014
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser) rs757559474 0.00012
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys) rs143247306 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006231.4(POLE):c.4150-17C>T rs758539843 0.00010
NM_006231.4(POLE):c.556G>A (p.Ala186Thr) rs375213599 0.00010
NM_006231.4(POLE):c.4047G>A (p.Ala1349=) rs201746181 0.00009
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006231.4(POLE):c.4168C>T (p.Arg1390Cys) rs768504121 0.00008
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00008
NM_006231.4(POLE):c.1106+20A>G rs200322118 0.00006
NM_006231.4(POLE):c.1707C>T (p.Phe569=) rs147438050 0.00006
NM_006231.4(POLE):c.3620C>T (p.Pro1207Leu) rs144086049 0.00006
NM_006231.4(POLE):c.4494G>A (p.Ala1498=) rs777611171 0.00006
NM_006231.4(POLE):c.6039C>T (p.Asp2013=) rs371563366 0.00006
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.1467C>T (p.Pro489=) rs995585765 0.00004
NM_006231.4(POLE):c.1560A>G (p.Gln520=) rs201841065 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.461G>A (p.Arg154Lys) rs769882912 0.00004
NM_006231.4(POLE):c.4739G>A (p.Arg1580Gln) rs201950040 0.00004
NM_006231.4(POLE):c.5515C>T (p.Arg1839Cys) rs141519273 0.00004
NM_006231.4(POLE):c.6018C>T (p.Ala2006=) rs111709550 0.00004
NM_006231.4(POLE):c.6575C>T (p.Ala2192Val) rs756301031 0.00004
NM_006231.4(POLE):c.909G>C (p.Gln303His) rs779801916 0.00004
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.6068C>T (p.Thr2023Ile) rs771628123 0.00003
NM_006231.4(POLE):c.6408C>T (p.Gly2136=) rs1057524549 0.00003
NM_006231.4(POLE):c.270del (p.Asp90fs) rs878854854 0.00002
NM_006231.4(POLE):c.350C>T (p.Ser117Leu) rs372057971 0.00002
NM_006231.4(POLE):c.4353G>A (p.Leu1451=) rs769149466 0.00002
NM_006231.4(POLE):c.553G>A (p.Asp185Asn) rs369506007 0.00002
NM_006231.4(POLE):c.6417C>T (p.Ser2139=) rs766935890 0.00002
NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser) rs200911338 0.00002
NM_006231.4(POLE):c.1516A>G (p.Met506Val) rs773634913 0.00001
NM_006231.4(POLE):c.1795-13G>A rs749522265 0.00001
NM_006231.4(POLE):c.241G>A (p.Ala81Thr) rs749720207 0.00001
NM_006231.4(POLE):c.2442C>T (p.Ser814=) rs377036799 0.00001
NM_006231.4(POLE):c.2459T>C (p.Met820Thr) rs767460640 0.00001
NM_006231.4(POLE):c.2562-2A>C rs751662353 0.00001
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr) rs770470552 0.00001
NM_006231.4(POLE):c.2864+8T>C rs878854856 0.00001
NM_006231.4(POLE):c.3015T>C (p.Ser1005=) rs376781169 0.00001
NM_006231.4(POLE):c.3479G>A (p.Arg1160His) rs757902862 0.00001
NM_006231.4(POLE):c.3582+6G>A rs113307290 0.00001
NM_006231.4(POLE):c.3617G>T (p.Arg1206Met) rs1060500839 0.00001
NM_006231.4(POLE):c.369G>A (p.Lys123=) rs1328407908 0.00001
NM_006231.4(POLE):c.391G>T (p.Val131Leu) rs745601745 0.00001
NM_006231.4(POLE):c.4454G>A (p.Arg1485His) rs973405989 0.00001
NM_006231.4(POLE):c.4646C>G (p.Pro1549Arg) rs577952179 0.00001
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) rs777695766 0.00001
NM_006231.4(POLE):c.5608C>T (p.Arg1870Cys) rs138231414 0.00001
NM_006231.4(POLE):c.5782A>G (p.Lys1928Glu) rs2042022711 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006231.4(POLE):c.6065G>A (p.Ser2022Asn) rs905858506 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 0.00001
NM_006231.4(POLE):c.895A>G (p.Met299Val) rs370727992 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+9G>A rs746392495
NM_006231.4(POLE):c.1175A>G (p.Asp392Gly) rs878854840
NM_006231.4(POLE):c.1180C>T (p.Gln394Ter) rs1565975090
NM_006231.4(POLE):c.1487del (p.Gly496fs) rs1555228358
NM_006231.4(POLE):c.1695C>T (p.Ala565=) rs139748472
NM_006231.4(POLE):c.1859C>T (p.Pro620Leu) rs1565966691
NM_006231.4(POLE):c.1863C>G (p.Leu621=) rs767326433
NM_006231.4(POLE):c.1866C>T (p.Ile622=) rs1060504068
NM_006231.4(POLE):c.2019C>T (p.Gly673=) rs748614767
NM_006231.4(POLE):c.2030C>T (p.Pro677Leu)
NM_006231.4(POLE):c.204+1G>A rs1431917980
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2083T>G (p.Phe695Val) rs5744799
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr) rs5744800
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2465A>G (p.Lys822Arg) rs986217332
NM_006231.4(POLE):c.2465_2467dup (p.Lys822_Gly823insGlu) rs1237046519
NM_006231.4(POLE):c.3139G>A (p.Gly1047Arg) rs1555225676
NM_006231.4(POLE):c.3276-1G>C
NM_006231.4(POLE):c.3318G>T (p.Arg1106Ser) rs760237541
NM_006231.4(POLE):c.3818G>T (p.Arg1273Leu) rs377324348
NM_006231.4(POLE):c.3857G>T (p.Arg1286Leu) rs771823596
NM_006231.4(POLE):c.3881G>T (p.Arg1294Leu) rs115455318
NM_006231.4(POLE):c.4181T>G (p.Val1394Gly) rs2138561597
NM_006231.4(POLE):c.4291-12C>T rs564807391
NM_006231.4(POLE):c.4331T>C (p.Val1444Ala) rs767189495
NM_006231.4(POLE):c.4476C>A (p.His1492Gln) rs5744943
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4551+2_4551+3del rs1251654299
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.4663G>A (p.Val1555Ile) rs1060500799
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006231.4(POLE):c.5275G>A (p.Asp1759Asn) rs768559928
NM_006231.4(POLE):c.5378+1G>T rs747165215
NM_006231.4(POLE):c.5534T>A (p.Met1845Lys) rs2042090697
NM_006231.4(POLE):c.5569A>G (p.Lys1857Glu) rs773659817
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.5668A>G (p.Ile1890Val) rs745804149
NM_006231.4(POLE):c.5895_5896delinsGGAAC (p.Glu1966_Ala1967insGln) rs1593712239
NM_006231.4(POLE):c.5907A>C (p.Glu1969Asp) rs1060504069
NM_006231.4(POLE):c.6177C>T (p.Leu2059=) rs1565926820
NM_006231.4(POLE):c.6427C>A (p.Gln2143Lys) rs1566309175
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs) rs774417192
NM_006231.4(POLE):c.6531+18C>T rs768260829
NM_006231.4(POLE):c.6532-14C>G rs1483343976
NM_006231.4(POLE):c.6538del (p.Ala2180fs) rs1566308645
NM_006231.4(POLE):c.6658-19C>G rs5745081
NM_006231.4(POLE):c.991C>T (p.Pro331Ser) rs994360398

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