ClinVar Miner

List of variants in gene POLE reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 120
Download table as spreadsheet
HGVS dbSNP
NC_000012.12:g.132668929_132668931TCA[3]
NM_006231.3(POLE):c.1019A>T (p.Glu340Val) rs895236041
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) rs137860861
NM_006231.3(POLE):c.1051G>A (p.Val351Ile) rs759414746
NM_006231.3(POLE):c.1066C>T (p.Pro356Ser) rs1555229220
NM_006231.3(POLE):c.1085A>G (p.Tyr362Cys) rs1368897791
NM_006231.3(POLE):c.1107-3C>T rs369572563
NM_006231.3(POLE):c.1280C>T (p.Ala427Val) rs878854841
NM_006231.3(POLE):c.1309G>A (p.Val437Met) rs115047349
NM_006231.3(POLE):c.1337G>A (p.Arg446Gln) rs151273553
NM_006231.3(POLE):c.1354C>A (p.Pro452Thr) rs1555228573
NM_006231.3(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.3(POLE):c.1468G>A (p.Asp490Asn) rs755463796
NM_006231.3(POLE):c.1550C>T (p.Pro517Leu) rs780556141
NM_006231.3(POLE):c.1583C>T (p.Thr528Met) rs116263919
NM_006231.3(POLE):c.167C>T (p.Pro56Leu) rs1555230404
NM_006231.3(POLE):c.1738C>A (p.His580Asn) rs371149234
NM_006231.3(POLE):c.1744C>T (p.Leu582Phe) rs761273376
NM_006231.3(POLE):c.1858C>T (p.Pro620Ser) rs979085449
NM_006231.3(POLE):c.1861C>T (p.Leu621Phe) rs945099471
NM_006231.3(POLE):c.1924-6del rs758112633
NM_006231.3(POLE):c.1957G>T (p.Ala653Ser) rs751451482
NM_006231.3(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.3(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.3(POLE):c.2171C>T (p.Ala724Val) rs61734163
NM_006231.3(POLE):c.218A>G (p.Asp73Gly) rs1060500786
NM_006231.3(POLE):c.2236A>G (p.Ile746Val) rs1480527153
NM_006231.3(POLE):c.2292G>A (p.Arg764=) rs1555227097
NM_006231.3(POLE):c.2385G>A (p.Lys795=) rs761666105
NM_006231.3(POLE):c.2455G>C (p.Val819Leu) rs1555226692
NM_006231.3(POLE):c.2510T>C (p.Phe837Ser) rs139182500
NM_006231.3(POLE):c.2527A>G (p.Ile843Val) rs780758461
NM_006231.3(POLE):c.2599G>A (p.Val867Ile) rs374200895
NM_006231.3(POLE):c.2612G>C (p.Ser871Thr) rs770470552
NM_006231.3(POLE):c.2645A>G (p.Asn882Ser) rs539312991
NM_006231.3(POLE):c.266A>C (p.Asp89Ala) rs756843283
NM_006231.3(POLE):c.2683G>A (p.Ala895Thr) rs201115064
NM_006231.3(POLE):c.2706+10G>A rs372609836
NM_006231.3(POLE):c.2707-9G>A rs1057521516
NM_006231.3(POLE):c.2711G>C (p.Gly904Ala) rs1332965505
NM_006231.3(POLE):c.2865-6_2865-4del rs369732588
NM_006231.3(POLE):c.2908G>A (p.Gly970Ser) rs1480250083
NM_006231.3(POLE):c.2964G>A (p.Ser988=) rs200080353
NM_006231.3(POLE):c.296C>T (p.Pro99Leu) rs5744739
NM_006231.3(POLE):c.2993C>T (p.Thr998Met) rs989886155
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.3223A>T (p.Ser1075Cys) rs145680387
NM_006231.3(POLE):c.3230G>A (p.Arg1077His) rs768950975
NM_006231.3(POLE):c.3245G>A (p.Arg1082His) rs201744227
NM_006231.3(POLE):c.3331C>T (p.Arg1111Trp) rs774028311
NM_006231.3(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.3(POLE):c.3713G>A (p.Ser1238Asn) rs879255392
NM_006231.3(POLE):c.3718G>A (p.Glu1240Lys) rs113594027
NM_006231.3(POLE):c.3763T>C (p.Leu1255=) rs745838504
NM_006231.3(POLE):c.3794A>T (p.Gln1265Leu) rs1555224038
NM_006231.3(POLE):c.3851G>A (p.Arg1284Gln) rs149462407
NM_006231.3(POLE):c.3863C>T (p.Ala1288Val) rs1467975024
NM_006231.3(POLE):c.3881G>A (p.Arg1294His) rs115455318
NM_006231.3(POLE):c.3971G>A (p.Arg1324His) rs143981093
NM_006231.3(POLE):c.3990G>T (p.Pro1330=) rs777546371
NM_006231.3(POLE):c.4012G>A (p.Glu1338Lys) rs751555395
NM_006231.3(POLE):c.4055G>C (p.Gly1352Ala) rs147088333
NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) rs141619382
NM_006231.3(POLE):c.4090C>T (p.Arg1364Cys) rs770024304
NM_006231.3(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933
NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr) rs146711942
NM_006231.3(POLE):c.431A>G (p.His144Arg) rs755709875
NM_006231.3(POLE):c.4450A>C (p.Ile1484Leu) rs772734618
NM_006231.3(POLE):c.4477G>A (p.Ala1493Thr) rs748522633
NM_006231.3(POLE):c.449G>A (p.Arg150Gln) rs780775837
NM_006231.3(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.3(POLE):c.4534G>A (p.Val1512Ile) rs147354120
NM_006231.3(POLE):c.4551+2_4551+3delTG rs1251654299
NM_006231.3(POLE):c.4567A>G (p.Met1523Val) rs1209633210
NM_006231.3(POLE):c.4582G>A (p.Ala1528Thr) rs373468985
NM_006231.3(POLE):c.461G>A (p.Arg154Lys) rs769882912
NM_006231.3(POLE):c.4736G>A (p.Arg1579His) rs375590443
NM_006231.3(POLE):c.4892G>T (p.Arg1631Leu) rs775590365
NM_006231.3(POLE):c.4901G>A (p.Arg1634His) rs760149463
NM_006231.3(POLE):c.5002G>A (p.Gly1668Ser) rs371348453
NM_006231.3(POLE):c.5130C>T (p.Asp1710=) rs1340452589
NM_006231.3(POLE):c.5221C>T (p.Gln1741Ter) rs781481160
NM_006231.3(POLE):c.5270G>T (p.Ser1757Ile) rs878854882
NM_006231.3(POLE):c.5278G>A (p.Val1760Met) rs373272795
NM_006231.3(POLE):c.5382C>G (p.Ile1794Met) rs368364666
NM_006231.3(POLE):c.5398G>A (p.Val1800Met) rs199777048
NM_006231.3(POLE):c.5507C>T (p.Ala1836Val) rs780776704
NM_006231.3(POLE):c.5552+1G>A rs1555221894
NM_006231.3(POLE):c.5591T>C (p.Ile1864Thr) rs896266569
NM_006231.3(POLE):c.5636G>A (p.Arg1879His) rs145621558
NM_006231.3(POLE):c.5659G>A (p.Val1887Met) rs114119067
NM_006231.3(POLE):c.5761A>G (p.Asn1921Asp) rs771980261
NM_006231.3(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.3(POLE):c.6004+5G>T rs372169366
NM_006231.3(POLE):c.6016G>T (p.Ala2006Ser) rs1328375671
NM_006231.3(POLE):c.6068C>T (p.Thr2023Ile) rs771628123
NM_006231.3(POLE):c.6135C>T (p.Pro2045=) rs368662693
NM_006231.3(POLE):c.6257T>C (p.Met2086Thr) rs528752399
NM_006231.3(POLE):c.6262C>T (p.Pro2088Ser) rs749342382
NM_006231.3(POLE):c.6392G>A (p.Arg2131His) rs141954509
NM_006231.3(POLE):c.6475C>T (p.Arg2159Cys) rs5745067
NM_006231.3(POLE):c.6493C>T (p.Arg2165Cys) rs369549727
NM_006231.3(POLE):c.6531+5G>A rs368538240
NM_006231.3(POLE):c.6531+6G>T rs774747998
NM_006231.3(POLE):c.6539C>T (p.Ala2180Val) rs552452448
NM_006231.3(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006231.3(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.3(POLE):c.6730C>T (p.Leu2244Phe) rs375741031
NM_006231.3(POLE):c.6818C>T (p.Thr2273Ile) rs779145729
NM_006231.3(POLE):c.691C>T (p.Arg231Cys) rs146592584
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.3(POLE):c.797G>T (p.Arg266Leu) rs115786159
NM_006231.3(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.3(POLE):c.863C>G (p.Ala288Gly) rs771619667
NM_006231.3(POLE):c.912C>T (p.Gly304=) rs1064794932
NM_006231.3(POLE):c.940T>G (p.Ser314Ala) rs770403791
NM_006231.3(POLE):c.941C>G (p.Ser314Ter) rs869312803
NM_006231.3(POLE):c.950T>G (p.Ile317Ser) rs1060500783

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.