ClinVar Miner

List of variants in gene POLE reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
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.4534G>A (p.Val1512Ile) rs147354120 0.00053
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
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.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) rs143981093 0.00032
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
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.3922C>T (p.Arg1308Trp) rs763854815 0.00017
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.3716A>G (p.Gln1239Arg) rs146210785 0.00016
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_006231.4(POLE):c.1559A>G (p.Gln520Arg) rs780865223 0.00012
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 0.00011
NM_006231.4(POLE):c.3763T>C (p.Leu1255=) rs745838504 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.6050G>A (p.Arg2017His) rs144178150 0.00011
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) rs141552148 0.00010
NM_006231.4(POLE):c.556G>A (p.Ala186Thr) rs375213599 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.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_006231.4(POLE):c.3229C>T (p.Arg1077Cys) rs149777592 0.00009
NM_006231.4(POLE):c.4055G>C (p.Gly1352Ala) rs147088333 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.4892G>A (p.Arg1631His) rs775590365 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.446A>G (p.Lys149Arg) rs374428362 0.00008
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00008
NM_006231.4(POLE):c.5480C>T (p.Ser1827Leu) rs763031537 0.00008
NM_006231.4(POLE):c.5596G>A (p.Ala1866Thr) rs377662540 0.00008
NM_006231.4(POLE):c.926A>G (p.Asn309Ser) rs767060387 0.00008
NM_006231.4(POLE):c.3230G>A (p.Arg1077His) rs768950975 0.00007
NM_006231.4(POLE):c.3968C>T (p.Ala1323Val) rs550525366 0.00007
NM_006231.4(POLE):c.4285A>T (p.Thr1429Ser) rs759497382 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val) rs190813054 0.00006
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991 0.00005
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_006231.4(POLE):c.6124G>A (p.Gly2042Arg) rs147954675 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.1357C>G (p.Gln453Glu) rs781360770 0.00004
NM_006231.4(POLE):c.1537A>G (p.Asn513Asp) rs200136603 0.00004
NM_006231.4(POLE):c.2054G>A (p.Arg685Gln) rs770597683 0.00004
NM_006231.4(POLE):c.2135G>A (p.Arg712His) rs115225325 0.00004
NM_006231.4(POLE):c.2599G>A (p.Val867Ile) rs374200895 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.2993C>T (p.Thr998Met) rs989886155 0.00004
NM_006231.4(POLE):c.3778G>A (p.Ala1260Thr) rs143858927 0.00004
NM_006231.4(POLE):c.4051G>A (p.Val1351Ile) rs138443282 0.00004
NM_006231.4(POLE):c.4267A>G (p.Ile1423Val) rs139498590 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.461G>A (p.Arg154Lys) rs769882912 0.00004
NM_006231.4(POLE):c.5578G>C (p.Gly1860Arg) rs144343630 0.00004
NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr) rs748008084 0.00004
NM_006231.4(POLE):c.5662G>A (p.Glu1888Lys) rs368363850 0.00004
NM_006231.4(POLE):c.5811+5G>A rs562946055 0.00004
NM_006231.4(POLE):c.6476G>A (p.Arg2159His) rs373092830 0.00004
NM_006231.4(POLE):c.6508T>C (p.Cys2170Arg) rs138094751 0.00004
NM_006231.4(POLE):c.6767G>C (p.Gly2256Ala) rs749707316 0.00004
NM_006231.4(POLE):c.863C>G (p.Ala288Gly) rs771619667 0.00004
NM_006231.4(POLE):c.912C>T (p.Gly304=) rs1064794932 0.00004
NM_006231.4(POLE):c.1138G>T (p.Gly380Cys) rs199746481 0.00003
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg) rs757186755 0.00003
NM_006231.4(POLE):c.1847G>A (p.Arg616His) rs764558974 0.00003
NM_006231.4(POLE):c.3377C>T (p.Ala1126Val) rs373707446 0.00003
NM_006231.4(POLE):c.3740C>T (p.Pro1247Leu) rs572986717 0.00003
NM_006231.4(POLE):c.3926A>G (p.Asp1309Gly) rs776828609 0.00003
NM_006231.4(POLE):c.3970C>T (p.Arg1324Cys) rs779464847 0.00003
NM_006231.4(POLE):c.4145G>A (p.Arg1382His) rs143229302 0.00003
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser) rs371348453 0.00003
NM_006231.4(POLE):c.6068C>T (p.Thr2023Ile) rs771628123 0.00003
NM_006231.4(POLE):c.6818C>T (p.Thr2273Ile) rs779145729 0.00003
NM_006231.4(POLE):c.1055A>C (p.Gln352Pro) rs766094330 0.00002
NM_006231.4(POLE):c.1181A>G (p.Gln394Arg) rs1014444345 0.00002
NM_006231.4(POLE):c.2363C>T (p.Ala788Val) rs1060500813 0.00002
NM_006231.4(POLE):c.2527A>G (p.Ile843Val) rs780758461 0.00002
NM_006231.4(POLE):c.3745G>A (p.Val1249Met) rs762626359 0.00002
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00002
NM_006231.4(POLE):c.3923G>A (p.Arg1308Gln) rs759793243 0.00002
NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys) rs575419120 0.00002
NM_006231.4(POLE):c.4738C>T (p.Arg1580Trp) rs192908615 0.00002
NM_006231.4(POLE):c.553G>A (p.Asp185Asn) rs369506007 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.6328A>G (p.Lys2110Glu) rs746736600 0.00002
NM_006231.4(POLE):c.6765C>G (p.Ile2255Met) rs376336585 0.00002
NM_006231.4(POLE):c.6776G>A (p.Arg2259Gln) rs762044635 0.00002
NM_006231.4(POLE):c.876G>T (p.Gln292His) rs1324298673 0.00002
NM_006231.4(POLE):c.1019A>T (p.Glu340Val) rs895236041 0.00001
NM_006231.4(POLE):c.1051G>A (p.Val351Ile) rs759414746 0.00001
NM_006231.4(POLE):c.1070C>T (p.Thr357Ile) rs2043035482 0.00001
NM_006231.4(POLE):c.1280C>T (p.Ala427Val) rs878854841 0.00001
NM_006231.4(POLE):c.1298G>T (p.Gly433Val) rs1465684132 0.00001
NM_006231.4(POLE):c.1309G>A (p.Val437Met) rs115047349 0.00001
NM_006231.4(POLE):c.1346C>T (p.Thr449Met) rs780299012 0.00001
NM_006231.4(POLE):c.1370C>T (p.Thr457Met) rs878854842 0.00001
NM_006231.4(POLE):c.1384G>A (p.Asp462Asn) rs765946486 0.00001
NM_006231.4(POLE):c.1447A>G (p.Thr483Ala) rs777736640 0.00001
NM_006231.4(POLE):c.1468G>A (p.Asp490Asn) rs755463796 0.00001
NM_006231.4(POLE):c.1481G>A (p.Arg494Gln) rs192173820 0.00001
NM_006231.4(POLE):c.1573A>C (p.Asn525His) rs751164982 0.00001
NM_006231.4(POLE):c.1591G>A (p.Gly531Arg) rs748489355 0.00001
NM_006231.4(POLE):c.1608T>C (p.Ser536=) rs763078534 0.00001
NM_006231.4(POLE):c.1744C>T (p.Leu582Phe) rs761273376 0.00001
NM_006231.4(POLE):c.1895C>G (p.Pro632Arg) rs1218293194 0.00001
NM_006231.4(POLE):c.2075C>T (p.Ser692Leu) rs1060500776 0.00001
NM_006231.4(POLE):c.2087C>T (p.Pro696Leu) rs766037063 0.00001
NM_006231.4(POLE):c.2152T>C (p.Tyr718His) rs1267528399 0.00001
NM_006231.4(POLE):c.2327A>G (p.Lys776Arg) rs375791061 0.00001
NM_006231.4(POLE):c.2350G>A (p.Glu784Lys) rs147427999 0.00001
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr) rs770470552 0.00001
NM_006231.4(POLE):c.266A>C (p.Asp89Ala) rs756843283 0.00001
NM_006231.4(POLE):c.2706+10G>A rs372609836 0.00001
NM_006231.4(POLE):c.2707-9G>A rs1057521516 0.00001
NM_006231.4(POLE):c.272G>A (p.Gly91Glu) rs376348304 0.00001
NM_006231.4(POLE):c.2964G>A (p.Ser988=) rs200080353 0.00001
NM_006231.4(POLE):c.341G>A (p.Arg114Gln) rs375785166 0.00001
NM_006231.4(POLE):c.3582+6G>A rs113307290 0.00001
NM_006231.4(POLE):c.3587C>T (p.Thr1196Met) rs866237249 0.00001
NM_006231.4(POLE):c.3623G>A (p.Ser1208Asn) rs781094608 0.00001
NM_006231.4(POLE):c.3901G>A (p.Val1301Met) rs112098447 0.00001
NM_006231.4(POLE):c.3959G>A (p.Arg1320Gln) rs772663586 0.00001
NM_006231.4(POLE):c.4046C>T (p.Ala1349Val) rs536988344 0.00001
NM_006231.4(POLE):c.4156C>T (p.Arg1386Trp) rs747619107 0.00001
NM_006231.4(POLE):c.4213G>A (p.Asp1405Asn) rs1193196213 0.00001
NM_006231.4(POLE):c.4567A>G (p.Met1523Val) rs1209633210 0.00001
NM_006231.4(POLE):c.4646C>G (p.Pro1549Arg) rs577952179 0.00001
NM_006231.4(POLE):c.4756G>T (p.Ala1586Ser) rs746266857 0.00001
NM_006231.4(POLE):c.5032C>T (p.Gln1678Ter) rs1301816028 0.00001
NM_006231.4(POLE):c.5084G>A (p.Gly1695Asp) rs920535000 0.00001
NM_006231.4(POLE):c.5125G>A (p.Asp1709Asn) rs572502366 0.00001
NM_006231.4(POLE):c.5215A>G (p.Ile1739Val) rs1064794641 0.00001
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) rs777695766 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5476C>T (p.Arg1826Trp) rs762000608 0.00001
NM_006231.4(POLE):c.5507C>T (p.Ala1836Val) rs780776704 0.00001
NM_006231.4(POLE):c.5562T>C (p.Ala1854=) rs1174721130 0.00001
NM_006231.4(POLE):c.5572C>T (p.Arg1858Cys) rs1193081581 0.00001
NM_006231.4(POLE):c.557C>T (p.Ala186Val) rs151325267 0.00001
NM_006231.4(POLE):c.5633G>A (p.Arg1878His) rs374022997 0.00001
NM_006231.4(POLE):c.590G>C (p.Arg197Thr) rs528361482 0.00001
NM_006231.4(POLE):c.595G>A (p.Gly199Ser) rs776540681 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 0.00001
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr) rs58916399 0.00001
NM_006231.4(POLE):c.6391C>T (p.Arg2131Cys) rs369748519 0.00001
NM_006231.4(POLE):c.6563C>G (p.Ser2188Cys) rs780307061 0.00001
NM_006231.4(POLE):c.6734C>G (p.Thr2245Ser) rs747676884 0.00001
NM_006231.4(POLE):c.6748-6C>T rs750255126 0.00001
NM_006231.4(POLE):c.700A>G (p.Ile234Val) rs779229533 0.00001
NM_006231.4(POLE):c.712A>T (p.Ile238Phe) rs536684123 0.00001
NM_006231.4(POLE):c.73G>A (p.Ala25Thr) rs773204331 0.00001
NM_006231.4(POLE):c.808G>A (p.Val270Met) rs374237142 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.4(POLE):c.942A>C (p.Ser314=) rs548933169 0.00001
NM_006231.4(POLE):c.983A>G (p.Tyr328Cys) rs1339375099 0.00001
NM_006231.4(POLE):c.1004T>G (p.Phe335Cys) rs1593078268
NM_006231.4(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.4(POLE):c.101G>T (p.Arg34Leu) rs747005851
NM_006231.4(POLE):c.1107-6A>G rs1565975340
NM_006231.4(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.4(POLE):c.1177A>G (p.Ser393Gly) rs2043024818
NM_006231.4(POLE):c.1242C>T (p.Asp414=) rs775213170
NM_006231.4(POLE):c.1256T>C (p.Val419Ala)
NM_006231.4(POLE):c.1313A>T (p.Glu438Val)
NM_006231.4(POLE):c.1325A>G (p.Glu442Gly) rs1230334566
NM_006231.4(POLE):c.1355C>T (p.Pro452Leu) rs2042979671
NM_006231.4(POLE):c.1359+5G>A rs761564635
NM_006231.4(POLE):c.138G>C (p.Leu46Phe) rs200611521
NM_006231.4(POLE):c.1405C>G (p.Leu469Val) rs368303888
NM_006231.4(POLE):c.1729A>G (p.Thr577Ala) rs1565970674
NM_006231.4(POLE):c.1741G>A (p.Ala581Thr) rs755090755
NM_006231.4(POLE):c.1742C>G (p.Ala581Gly) rs753890723
NM_006231.4(POLE):c.1861C>T (p.Leu621Phe) rs945099471
NM_006231.4(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_006231.4(POLE):c.2085C>T (p.Phe695=) rs1060500837
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr) rs5744800
NM_006231.4(POLE):c.2090C>A (p.Pro697His) rs36120395
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.4(POLE):c.2134C>G (p.Arg712Gly) rs749194160
NM_006231.4(POLE):c.2170G>A (p.Ala724Thr) rs866871212
NM_006231.4(POLE):c.2255_2257del (p.Ser752del) rs878854850
NM_006231.4(POLE):c.2292G>A (p.Arg764=) rs1555227097
NM_006231.4(POLE):c.2311C>T (p.Leu771Phe) rs2042823051
NM_006231.4(POLE):c.2321T>C (p.Val774Ala) rs771591846
NM_006231.4(POLE):c.2335C>G (p.Leu779Val) rs747478766
NM_006231.4(POLE):c.2385G>A (p.Lys795=) rs761666105
NM_006231.4(POLE):c.2455G>C (p.Val819Leu) rs1555226692
NM_006231.4(POLE):c.2469-5C>T rs1565961371
NM_006231.4(POLE):c.2575C>T (p.Leu859=) rs1565960909
NM_006231.4(POLE):c.289G>T (p.Ala97Ser) rs1593086461
NM_006231.4(POLE):c.2944A>T (p.Ile982Phe) rs1593776104
NM_006231.4(POLE):c.3080_3081del (p.Asp1026_Ser1027insTer) rs752148857
NM_006231.4(POLE):c.3142G>A (p.Glu1048Lys) rs1164020030
NM_006231.4(POLE):c.3238A>T (p.Ile1080Phe) rs2042627964
NM_006231.4(POLE):c.3262C>A (p.Pro1088Thr) rs957043409
NM_006231.4(POLE):c.3331C>T (p.Arg1111Trp) rs774028311
NM_006231.4(POLE):c.3367G>C (p.Asp1123His) rs1565953965
NM_006231.4(POLE):c.3583-9T>G rs1218288858
NM_006231.4(POLE):c.3614C>A (p.Pro1205Gln) rs772686048
NM_006231.4(POLE):c.3626C>T (p.Ala1209Val) rs1593751440
NM_006231.4(POLE):c.3652G>A (p.Val1218Ile) rs756246229
NM_006231.4(POLE):c.3669AGC[3] (p.Ala1225dup) rs750939989
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3677C>T (p.Pro1226Leu) rs1390451656
NM_006231.4(POLE):c.3685G>A (p.Val1229Met) rs1565946654
NM_006231.4(POLE):c.3721_3722inv (p.Glu1241Ser)
NM_006231.4(POLE):c.3748C>T (p.Pro1250Ser) rs769323549
NM_006231.4(POLE):c.3794A>T (p.Gln1265Leu) rs1555224038
NM_006231.4(POLE):c.404C>A (p.Pro135His) rs1565980234
NM_006231.4(POLE):c.4157G>A (p.Arg1386Gln) rs969355093
NM_006231.4(POLE):c.4220A>G (p.Tyr1407Cys) rs775556994
NM_006231.4(POLE):c.427A>G (p.Asn143Asp) rs889470853
NM_006231.4(POLE):c.4290+1G>A rs1565940214
NM_006231.4(POLE):c.4295C>A (p.Pro1432Gln) rs371712284
NM_006231.4(POLE):c.4404G>A (p.Leu1468=) rs1565939532
NM_006231.4(POLE):c.4450A>G (p.Ile1484Val) rs772734618
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4551+10G>A rs1565938933
NM_006231.4(POLE):c.4551+2_4551+3del rs1251654299
NM_006231.4(POLE):c.4587G>A (p.Leu1529=) rs1565938547
NM_006231.4(POLE):c.4731G>A (p.Glu1577=) rs772361606
NM_006231.4(POLE):c.4831A>C (p.Ile1611Leu) rs551368454
NM_006231.4(POLE):c.5060C>A (p.Ser1687Tyr) rs1565936909
NM_006231.4(POLE):c.5090AGG[1] (p.Glu1698del) rs1555222471
NM_006231.4(POLE):c.5248G>A (p.Gly1750Arg) rs1593728023
NM_006231.4(POLE):c.5607C>T (p.Asn1869=) rs1565932038
NM_006231.4(POLE):c.5645A>C (p.Asp1882Ala) rs2042069172
NM_006231.4(POLE):c.5650A>G (p.Ile1884Val) rs2042069041
NM_006231.4(POLE):c.5836G>A (p.Ala1946Thr) rs772611021
NM_006231.4(POLE):c.5907A>C (p.Glu1969Asp) rs1060504069
NM_006231.4(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616
NM_006231.4(POLE):c.6279C>T (p.Ser2093=) rs1262321199
NM_006231.4(POLE):c.6535G>A (p.Gly2179Arg) rs1593696607
NM_006231.4(POLE):c.6590C>T (p.Ser2197Phe) rs1489412079
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.4(POLE):c.6777G>C (p.Arg2259=) rs540203276
NM_006231.4(POLE):c.6843C>G (p.Asn2281Lys) rs1166482142
NM_006231.4(POLE):c.804C>T (p.Asp268=) rs1593079711
NM_006231.4(POLE):c.826A>G (p.Ile276Val) rs1280169933
NM_006231.4(POLE):c.87T>G (p.Val29=) rs1565981775
NM_006231.4(POLE):c.950T>G (p.Ile317Ser) rs1060500783
NM_006231.4(POLE):c.955G>A (p.Asp319Asn) rs116162724
NM_006231.4(POLE):c.989G>T (p.Gly330Val) rs748288210

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