ClinVar Miner

List of variants in gene POLE reported by Sema4, Sema4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
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.776G>A (p.Arg259His) rs61732929 0.00604
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006231.4(POLE):c.779G>A (p.Arg260Gln) rs5744752 0.00312
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.2561+6T>C rs116231808 0.00179
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.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.1347G>A (p.Thr449=) rs142373951 0.00094
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.3747G>A (p.Val1249=) rs80290414 0.00080
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.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_006231.4(POLE):c.3881G>A (p.Arg1294His) rs115455318 0.00041
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) rs113998091 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.6795C>T (p.Tyr2265=) rs142222159 0.00030
NM_006231.4(POLE):c.5496T>C (p.Leu1832=) rs147543146 0.00029
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.546C>T (p.His182=) rs115257501 0.00026
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006231.4(POLE):c.3378+10A>G rs193075152 0.00019
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3716A>G (p.Gln1239Arg) rs146210785 0.00016
NM_006231.4(POLE):c.6597C>T (p.Ile2199=) rs147611144 0.00016
NM_006231.4(POLE):c.252C>T (p.Tyr84=) rs148838481 0.00015
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr) rs115193764 0.00015
NM_006231.4(POLE):c.1188G>A (p.Glu396=) rs371717068 0.00014
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.1740C>T (p.His580=) rs114972594 0.00014
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006231.4(POLE):c.2935C>T (p.Leu979=) rs56081968 0.00013
NM_006231.4(POLE):c.1559A>G (p.Gln520Arg) rs780865223 0.00012
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser) rs757559474 0.00012
NM_006231.4(POLE):c.1590C>T (p.Asp530=) rs1040269464 0.00011
NM_006231.4(POLE):c.285+13C>A rs76960367 0.00011
NM_006231.4(POLE):c.3411G>A (p.Leu1137=) rs368920055 0.00011
NM_006231.4(POLE):c.3670G>T (p.Ala1224Ser) rs369338222 0.00011
NM_006231.4(POLE):c.3671C>T (p.Ala1224Val) rs375208564 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
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.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu) rs772734618 0.00010
NM_006231.4(POLE):c.6454G>A (p.Val2152Met) rs138789360 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_006231.4(POLE):c.3049C>T (p.Leu1017=) rs371831931 0.00009
NM_006231.4(POLE):c.4892G>A (p.Arg1631His) rs775590365 0.00009
NM_006231.4(POLE):c.5769C>T (p.Gly1923=) rs375198950 0.00009
NM_006231.4(POLE):c.1282G>A (p.Ala428Thr) rs150032060 0.00008
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.446A>G (p.Lys149Arg) rs374428362 0.00008
NM_006231.4(POLE):c.926A>G (p.Asn309Ser) rs767060387 0.00008
NM_006231.4(POLE):c.2172G>A (p.Ala724=) rs372240734 0.00007
NM_006231.4(POLE):c.3230G>A (p.Arg1077His) rs768950975 0.00007
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00007
NM_006231.4(POLE):c.6111C>T (p.Ala2037=) rs541439106 0.00007
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.2262C>T (p.Tyr754=) rs145337550 0.00006
NM_006231.4(POLE):c.3462A>T (p.Val1154=) rs756940534 0.00006
NM_006231.4(POLE):c.4494G>A (p.Ala1498=) rs777611171 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys) rs116260568 0.00005
NM_006231.4(POLE):c.1924-6del rs758112633 0.00005
NM_006231.4(POLE):c.5238C>T (p.Asn1746=) rs200128464 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.1264C>T (p.His422Tyr) rs745356467 0.00004
NM_006231.4(POLE):c.1336C>T (p.Arg446Trp) rs200403177 0.00004
NM_006231.4(POLE):c.1357C>G (p.Gln453Glu) rs781360770 0.00004
NM_006231.4(POLE):c.1411A>G (p.Met471Val) rs749021187 0.00004
NM_006231.4(POLE):c.3183C>T (p.Ala1061=) rs751756901 0.00004
NM_006231.4(POLE):c.330+3G>A rs369152225 0.00004
NM_006231.4(POLE):c.3912C>T (p.Pro1304=) rs116482376 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.4267A>G (p.Ile1423Val) rs139498590 0.00004
NM_006231.4(POLE):c.4755C>T (p.Ile1585=) rs540172985 0.00004
NM_006231.4(POLE):c.5174-6G>C rs770466844 0.00004
NM_006231.4(POLE):c.5412G>A (p.Lys1804=) rs144218410 0.00004
NM_006231.4(POLE):c.6018C>T (p.Ala2006=) rs111709550 0.00004
NM_006231.4(POLE):c.762G>A (p.Pro254=) rs371334601 0.00004
NM_006231.4(POLE):c.863C>G (p.Ala288Gly) rs771619667 0.00004
NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) rs576578672 0.00003
NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys) rs766511597 0.00003
NM_006231.4(POLE):c.5001C>T (p.Phe1667=) rs112358554 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.558G>C (p.Ala186=) rs764758303 0.00003
NM_006231.4(POLE):c.5736A>G (p.Glu1912=) rs369755963 0.00003
NM_006231.4(POLE):c.1089C>T (p.Asn363=) rs146639652 0.00002
NM_006231.4(POLE):c.1137C>T (p.His379=) rs376333939 0.00002
NM_006231.4(POLE):c.1227-8C>T rs537816213 0.00002
NM_006231.4(POLE):c.1277C>T (p.Ala426Val) rs374920539 0.00002
NM_006231.4(POLE):c.2099C>T (p.Pro700Leu) rs777002868 0.00002
NM_006231.4(POLE):c.2792T>C (p.Phe931Ser) rs376546593 0.00002
NM_006231.4(POLE):c.306G>A (p.Pro102=) rs759888478 0.00002
NM_006231.4(POLE):c.3270G>A (p.Thr1090=) rs758258927 0.00002
NM_006231.4(POLE):c.3777C>T (p.Pro1259=) rs770904877 0.00002
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00002
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg) rs563990655 0.00002
NM_006231.4(POLE):c.4308G>C (p.Arg1436=) rs367898059 0.00002
NM_006231.4(POLE):c.4353G>A (p.Leu1451=) rs769149466 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006231.4(POLE):c.552C>T (p.Ser184=) rs878854884 0.00002
NM_006231.4(POLE):c.553G>A (p.Asp185Asn) rs369506007 0.00002
NM_006231.4(POLE):c.6666G>A (p.Leu2222=) rs777438368 0.00002
NM_006231.4(POLE):c.724C>T (p.His242Tyr) rs148525573 0.00002
NM_006231.4(POLE):c.910-5G>A rs750101293 0.00002
NM_006231.4(POLE):c.1014C>T (p.Pro338=) rs143102561 0.00001
NM_006231.4(POLE):c.1308C>T (p.Pro436=) rs755627156 0.00001
NM_006231.4(POLE):c.1926C>T (p.Pro642=) rs779747873 0.00001
NM_006231.4(POLE):c.2316C>T (p.His772=) rs768883555 0.00001
NM_006231.4(POLE):c.2462G>A (p.Arg821His) rs757051826 0.00001
NM_006231.4(POLE):c.2540G>A (p.Arg847Gln) rs534297483 0.00001
NM_006231.4(POLE):c.3108C>T (p.Asn1036=) rs772522635 0.00001
NM_006231.4(POLE):c.3355C>T (p.Leu1119Phe) rs376921543 0.00001
NM_006231.4(POLE):c.3447G>A (p.Ala1149=) rs758702382 0.00001
NM_006231.4(POLE):c.3582+6G>A rs113307290 0.00001
NM_006231.4(POLE):c.3583G>A (p.Val1195Ile) rs773503806 0.00001
NM_006231.4(POLE):c.3880C>T (p.Arg1294Cys) rs770966534 0.00001
NM_006231.4(POLE):c.391G>T (p.Val131Leu) rs745601745 0.00001
NM_006231.4(POLE):c.3999T>A (p.Ile1333=) rs929039052 0.00001
NM_006231.4(POLE):c.4245C>T (p.Asn1415=) rs778896278 0.00001
NM_006231.4(POLE):c.4455C>T (p.Arg1485=) rs750833365 0.00001
NM_006231.4(POLE):c.4527G>A (p.Arg1509=) rs767676720 0.00001
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys) rs542430685 0.00001
NM_006231.4(POLE):c.4735C>T (p.Arg1579Cys) rs1060500802 0.00001
NM_006231.4(POLE):c.5173+11G>A rs201001062 0.00001
NM_006231.4(POLE):c.5205C>T (p.Ala1735=) rs778829972 0.00001
NM_006231.4(POLE):c.5454G>A (p.Val1818=) rs1046972573 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr) rs58916399 0.00001
NM_006231.4(POLE):c.6350A>G (p.Asn2117Ser) rs771404261 0.00001
NM_006231.4(POLE):c.6640T>G (p.Phe2214Val) rs1251545206 0.00001
NM_006231.4(POLE):c.6846A>C (p.Pro2282=) rs1369939692 0.00001
NM_006231.4(POLE):c.68A>G (p.Asp23Gly) rs765898876 0.00001
NM_006231.4(POLE):c.712A>T (p.Ile238Phe) rs536684123 0.00001
NM_006231.4(POLE):c.84A>T (p.Ser28=) rs774280853 0.00001
NM_006231.4(POLE):c.996T>C (p.Phe332=) rs779159186 0.00001
NM_006231.4(POLE):c.1106+11G>T rs2136010805
NM_006231.4(POLE):c.1129G>A (p.Ala377Thr) rs754508108
NM_006231.4(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.4(POLE):c.1182G>C (p.Gln394His) rs2136008752
NM_006231.4(POLE):c.1213A>G (p.Met405Val) rs1064796182
NM_006231.4(POLE):c.1225A>G (p.Arg409Gly) rs2136008293
NM_006231.4(POLE):c.1291_1311dup (p.Lys431_Val437dup) rs1593073188
NM_006231.4(POLE):c.1325A>G (p.Glu442Gly) rs1230334566
NM_006231.4(POLE):c.1360-10C>G rs1480904053
NM_006231.4(POLE):c.1588G>T (p.Asp530Tyr) rs753660907
NM_006231.4(POLE):c.1695C>A (p.Ala565=) rs139748472
NM_006231.4(POLE):c.1695C>T (p.Ala565=) rs139748472
NM_006231.4(POLE):c.2058C>A (p.Ile686=) rs140254249
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.2122C>T (p.His708Tyr) rs1593791799
NM_006231.4(POLE):c.2130G>A (p.Leu710=) rs77327458
NM_006231.4(POLE):c.2645A>T (p.Asn882Ile) rs539312991
NM_006231.4(POLE):c.3267C>T (p.Val1089=) rs1555225636
NM_006231.4(POLE):c.3387T>C (p.Asp1129=) rs371357642
NM_006231.4(POLE):c.4150-12T>C rs551697046
NM_006231.4(POLE):c.4447A>G (p.Ser1483Gly) rs1475068188
NM_006231.4(POLE):c.4610T>A (p.Leu1537His) rs1555222743
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.4647C>A (p.Pro1549=) rs1004972253
NM_006231.4(POLE):c.4932G>T (p.Ser1644=) rs1057522607
NM_006231.4(POLE):c.4987G>C (p.Asp1663His) rs753910068
NM_006231.4(POLE):c.4992C>T (p.Ile1664=) rs1555222515
NM_006231.4(POLE):c.5037C>A (p.Arg1679=) rs1057523897
NM_006231.4(POLE):c.510C>T (p.Ile170=) rs374074035
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.6777G>T (p.Arg2259=) rs540203276
NM_006231.4(POLE):c.682_684dup (p.Tyr228dup) rs1565977938
NM_006231.4(POLE):c.718G>C (p.Val240Leu) rs371882716
NM_006231.4(POLE):c.797G>A (p.Arg266Gln) rs115786159
NM_006231.4(POLE):c.810G>A (p.Val270=) rs973650664
NM_006231.4(POLE):c.819A>G (p.Ala273=) rs1185171180
NM_006231.4(POLE):c.840A>C (p.Lys280Asn) rs908089476
NM_006231.4(POLE):c.847C>T (p.Leu283Phe) rs878854898
NM_006231.4(POLE):c.934A>G (p.Ile312Val) rs1008022121

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