ClinVar Miner

List of variants in gene POLE reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
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.296C>T (p.Pro99Leu) rs5744739 0.00127
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.1360-6C>T rs139836643 0.00101
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.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215 0.00035
NM_006231.4(POLE):c.*18G>T rs573406234 0.00034
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_006231.4(POLE):c.6714C>T (p.Cys2238=) rs200082120 0.00033
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
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.3379-12C>T rs187618435 0.00023
NM_006231.4(POLE):c.5379-19C>T rs376722984 0.00023
NM_006231.4(POLE):c.761C>T (p.Pro254Leu) rs200211438 0.00023
NM_006231.4(POLE):c.672C>T (p.Tyr224=) rs376923206 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.4952+10G>A rs376828693 0.00018
NM_006231.4(POLE):c.5173+18C>T rs201587262 0.00017
NM_006231.4(POLE):c.1188G>A (p.Glu396=) rs371717068 0.00014
NM_006231.4(POLE):c.1740C>T (p.His580=) rs114972594 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006231.4(POLE):c.3411G>A (p.Leu1137=) rs368920055 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.4150-17C>T rs758539843 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_006231.4(POLE):c.1905C>T (p.Ile635=) rs145203544 0.00009
NM_006231.4(POLE):c.4047G>A (p.Ala1349=) rs201746181 0.00009
NM_006231.4(POLE):c.4719C>T (p.Leu1573=) rs115219846 0.00009
NM_006231.4(POLE):c.6657+7C>T rs746459362 0.00009
NM_006231.4(POLE):c.2481C>T (p.Tyr827=) rs149513974 0.00008
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.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.1707C>T (p.Phe569=) rs147438050 0.00006
NM_006231.4(POLE):c.2262C>T (p.Tyr754=) rs145337550 0.00006
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=) rs201249963 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.1924-6del rs758112633 0.00005
NM_006231.4(POLE):c.5652C>T (p.Ile1884=) rs567300887 0.00005
NM_006231.4(POLE):c.1296A>G (p.Leu432=) rs142624113 0.00004
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.1584G>A (p.Thr528=) rs371824210 0.00004
NM_006231.4(POLE):c.2136C>T (p.Arg712=) rs755810756 0.00004
NM_006231.4(POLE):c.2763C>T (p.Tyr921=) rs767254003 0.00004
NM_006231.4(POLE):c.2958A>G (p.Gln986=) rs538349768 0.00004
NM_006231.4(POLE):c.330+3G>A rs369152225 0.00004
NM_006231.4(POLE):c.378C>A (p.Gly126=) rs374163231 0.00004
NM_006231.4(POLE):c.3891G>A (p.Ser1297=) rs375466233 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.4995C>T (p.Ser1665=) rs766531363 0.00004
NM_006231.4(POLE):c.5412G>A (p.Lys1804=) rs144218410 0.00004
NM_006231.4(POLE):c.6012C>T (p.Ile2004=) rs147806951 0.00004
NM_006231.4(POLE):c.6018C>T (p.Ala2006=) rs111709550 0.00004
NM_006231.4(POLE):c.828T>C (p.Ile276=) rs878854897 0.00004
NM_006231.4(POLE):c.2154C>T (p.Tyr718=) rs1057524685 0.00003
NM_006231.4(POLE):c.2271C>T (p.Thr757=) rs765532123 0.00003
NM_006231.4(POLE):c.2598C>T (p.Cys866=) rs765653117 0.00003
NM_006231.4(POLE):c.3417C>T (p.Ser1139=) rs762838377 0.00003
NM_006231.4(POLE):c.424-10C>T rs748433747 0.00003
NM_006231.4(POLE):c.5173+10C>T rs371098994 0.00003
NM_006231.4(POLE):c.1227-8C>T rs537816213 0.00002
NM_006231.4(POLE):c.129G>A (p.Lys43=) rs767554563 0.00002
NM_006231.4(POLE):c.2343G>A (p.Ala781=) rs199751241 0.00002
NM_006231.4(POLE):c.2469-10G>A rs1060500870 0.00002
NM_006231.4(POLE):c.351A>G (p.Ser117=) rs199773841 0.00002
NM_006231.4(POLE):c.4353G>A (p.Leu1451=) rs769149466 0.00002
NM_006231.4(POLE):c.5658C>T (p.Tyr1886=) rs369346799 0.00002
NM_006231.4(POLE):c.6417C>T (p.Ser2139=) rs766935890 0.00002
NM_006231.4(POLE):c.1050C>T (p.His350=) rs752171701 0.00001
NM_006231.4(POLE):c.1308C>T (p.Pro436=) rs755627156 0.00001
NM_006231.4(POLE):c.1795-13G>A rs749522265 0.00001
NM_006231.4(POLE):c.1851C>T (p.Ile617=) rs1338582924 0.00001
NM_006231.4(POLE):c.2187A>G (p.Lys729=) rs1060504065 0.00001
NM_006231.4(POLE):c.2361C>T (p.Asp787=) rs1060504070 0.00001
NM_006231.4(POLE):c.2442C>T (p.Ser814=) rs377036799 0.00001
NM_006231.4(POLE):c.2561+9A>G rs752560401 0.00001
NM_006231.4(POLE):c.2864+8T>C rs878854856 0.00001
NM_006231.4(POLE):c.2865-4T>C rs1060500840 0.00001
NM_006231.4(POLE):c.3015T>C (p.Ser1005=) rs376781169 0.00001
NM_006231.4(POLE):c.3138C>T (p.Tyr1046=) rs779628723 0.00001
NM_006231.4(POLE):c.321G>A (p.Ala107=) rs752370920 0.00001
NM_006231.4(POLE):c.3492C>T (p.Pro1164=) rs754348616 0.00001
NM_006231.4(POLE):c.3582+6G>A rs113307290 0.00001
NM_006231.4(POLE):c.3594C>T (p.Ala1198=) rs200803943 0.00001
NM_006231.4(POLE):c.369G>A (p.Lys123=) rs1328407908 0.00001
NM_006231.4(POLE):c.3861C>T (p.Leu1287=) rs761684406 0.00001
NM_006231.4(POLE):c.3990G>A (p.Pro1330=) rs777546371 0.00001
NM_006231.4(POLE):c.4602C>T (p.His1534=) rs749126952 0.00001
NM_006231.4(POLE):c.5046C>T (p.His1682=) rs769284070 0.00001
NM_006231.4(POLE):c.5067A>G (p.Thr1689=) rs1256621322 0.00001
NM_006231.4(POLE):c.5130C>T (p.Asp1710=) rs1340452589 0.00001
NM_006231.4(POLE):c.5529C>T (p.Asn1843=) rs766130096 0.00001
NM_006231.4(POLE):c.5901G>A (p.Ala1967=) rs200474862 0.00001
NM_006231.4(POLE):c.6165C>T (p.Val2055=) rs1035847971 0.00001
NM_006231.4(POLE):c.6273C>T (p.Pro2091=) rs767769851 0.00001
NM_006231.4(POLE):c.6657+8G>A rs777791883 0.00001
NM_006231.4(POLE):c.6837G>A (p.Gln2279=) rs1195523886 0.00001
NM_006231.4(POLE):c.706C>T (p.Leu236=) rs553397628 0.00001
NM_006231.4(POLE):c.720+6T>C rs751448342 0.00001
NM_006231.4(POLE):c.1106+12T>C rs781673811
NM_006231.4(POLE):c.1106+7C>A rs369889926
NM_006231.4(POLE):c.1106+9G>A rs746392495
NM_006231.4(POLE):c.1443G>A (p.Leu481=) rs1593072246
NM_006231.4(POLE):c.1686+34A>G
NM_006231.4(POLE):c.1686+37C>T
NM_006231.4(POLE):c.1695C>T (p.Ala565=) rs139748472
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.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2174-6G>A rs1593790359
NM_006231.4(POLE):c.2320-9G>T rs769834031
NM_006231.4(POLE):c.2727G>A (p.Gln909=) rs1555226055
NM_006231.4(POLE):c.3135T>C (p.Asp1045=) rs748871390
NM_006231.4(POLE):c.3275+7G>A rs569035099
NM_006231.4(POLE):c.3750C>A (p.Pro1250=)
NM_006231.4(POLE):c.4291-12C>T rs564807391
NM_006231.4(POLE):c.4572C>T (p.Pro1524=) rs766050469
NM_006231.4(POLE):c.4635C>T (p.Leu1545=) rs199945393
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.4857T>C (p.Tyr1619=) rs1060504075
NM_006231.4(POLE):c.5173+10C>G rs371098994
NM_006231.4(POLE):c.5358C>A (p.Ala1786=) rs2138523064
NM_006231.4(POLE):c.558G>A (p.Ala186=) rs764758303
NM_006231.4(POLE):c.5847G>A (p.Glu1949=)
NM_006231.4(POLE):c.6177C>T (p.Leu2059=) rs1565926820
NM_006231.4(POLE):c.6303C>T (p.Ala2101=)
NM_006231.4(POLE):c.6531+18C>T rs768260829
NM_006231.4(POLE):c.6532-14C>G rs1483343976
NM_006231.4(POLE):c.6658-19C>G rs5745081
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.720+10G>C rs2136019805
NM_006231.4(POLE):c.802-6C>T rs754779082
NM_006231.4(POLE):c.804C>T (p.Asp268=) rs1593079711

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