ClinVar Miner

List of variants in gene POLE reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP
NM_006231.3(POLE):c.-45G>A rs1064795271
NM_006231.3(POLE):c.-47G>T rs1014146082
NM_006231.3(POLE):c.-6G>A rs534524789
NM_006231.3(POLE):c.-6G>C rs534524789
NM_006231.3(POLE):c.-7C>T rs1064796567
NM_006231.3(POLE):c.1020+1G>T rs1064794748
NM_006231.3(POLE):c.1021-20C>G rs1064796140
NM_006231.3(POLE):c.1021-26_1045delinsGTTCTACACC rs1555229232
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.1055A>C (p.Gln352Pro) rs766094330
NM_006231.3(POLE):c.1064A>G (p.Lys355Arg) rs141396559
NM_006231.3(POLE):c.1088A>G (p.Asn363Ser) rs879254173
NM_006231.3(POLE):c.1106+20A>G rs200322118
NM_006231.3(POLE):c.1107G>A (p.Trp369Ter) rs1171878347
NM_006231.3(POLE):c.1108C>A (p.Pro370Thr) rs576578672
NM_006231.3(POLE):c.112A>T (p.Ser38Cys) rs879254247
NM_006231.3(POLE):c.1147A>G (p.Met383Val) rs879254238
NM_006231.3(POLE):c.1156G>A (p.Glu386Lys) rs893340262
NM_006231.3(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.3(POLE):c.1184G>A (p.Gly395Glu) rs546499094
NM_006231.3(POLE):c.1191C>G (p.Tyr397Ter) rs1208085896
NM_006231.3(POLE):c.1213A>C (p.Met405Leu) rs1064796182
NM_006231.3(POLE):c.1264C>T (p.His422Tyr) rs745356467
NM_006231.3(POLE):c.1274A>G (p.Lys425Arg) rs757186755
NM_006231.3(POLE):c.1303G>A (p.Asp435Asn) rs879254276
NM_006231.3(POLE):c.1336C>T (p.Arg446Trp) rs200403177
NM_006231.3(POLE):c.1337G>A (p.Arg446Gln) rs151273553
NM_006231.3(POLE):c.1372T>A (p.Tyr458Asn) rs879254259
NM_006231.3(POLE):c.1376C>G (p.Ser459Cys) rs765702675
NM_006231.3(POLE):c.1468G>A (p.Asp490Asn) rs755463796
NM_006231.3(POLE):c.1487del (p.Gly496fs) rs1555228358
NM_006231.3(POLE):c.1534G>A (p.Ala512Thr) rs113998091
NM_006231.3(POLE):c.155G>A (p.Arg52Gln) rs372459649
NM_006231.3(POLE):c.1583C>T (p.Thr528Met) rs116263919
NM_006231.3(POLE):c.1645T>C (p.Ser549Pro) rs115558715
NM_006231.3(POLE):c.1661G>A (p.Ser554Asn) rs1028317886
NM_006231.3(POLE):c.1708C>A (p.Leu570Met) rs748807227
NM_006231.3(POLE):c.1717C>T (p.Arg573Trp) rs373000452
NM_006231.3(POLE):c.1735C>T (p.Arg579Cys) rs116260568
NM_006231.3(POLE):c.1738C>A (p.His580Asn) rs371149234
NM_006231.3(POLE):c.1868A>G (p.Tyr623Cys) rs150564856
NM_006231.3(POLE):c.1897A>C (p.Asn633His) rs141657198
NM_006231.3(POLE):c.1957G>T (p.Ala653Ser) rs751451482
NM_006231.3(POLE):c.1A>C (p.Met1Leu) rs878854847
NM_006231.3(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.3(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.3(POLE):c.2016G>A (p.Arg672=) rs991583405
NM_006231.3(POLE):c.2054G>A (p.Arg685Gln) rs770597683
NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.3(POLE):c.2091del (p.Leu698fs) rs752846614
NM_006231.3(POLE):c.2091dup (p.Phe699fs) rs752846614
NM_006231.3(POLE):c.20_29dup (p.Asp12fs) rs1555231426
NM_006231.3(POLE):c.2131T>C (p.Ser711Pro) rs374800058
NM_006231.3(POLE):c.2171C>T (p.Ala724Val) rs61734163
NM_006231.3(POLE):c.2225G>A (p.Arg742His) rs116360781
NM_006231.3(POLE):c.2245C>T (p.Arg749Trp) rs751326135
NM_006231.3(POLE):c.2276G>A (p.Arg759His) rs746774432
NM_006231.3(POLE):c.2284C>T (p.Arg762Trp) rs1064794759
NM_006231.3(POLE):c.2340_2342GGC[1] (p.Ala782del) rs1064796065
NM_006231.3(POLE):c.2377C>T (p.Arg793Cys) rs376624527
NM_006231.3(POLE):c.239G>A (p.Ser80Asn) rs1064795406
NM_006231.3(POLE):c.2487G>A (p.Met829Ile) rs372109189
NM_006231.3(POLE):c.2510T>C (p.Phe837Ser) rs139182500
NM_006231.3(POLE):c.2562-2A>C rs751662353
NM_006231.3(POLE):c.2599G>A (p.Val867Ile) rs374200895
NM_006231.3(POLE):c.2683G>A (p.Ala895Thr) rs201115064
NM_006231.3(POLE):c.2707G>T (p.Glu903Ter) rs1555226066
NM_006231.3(POLE):c.270del (p.Asp90fs) rs878854854
NM_006231.3(POLE):c.2792T>C (p.Phe931Ser) rs376546593
NM_006231.3(POLE):c.2818A>G (p.Met940Val) rs148382941
NM_006231.3(POLE):c.2879A>G (p.Asn960Ser) rs746311547
NM_006231.3(POLE):c.296C>T (p.Pro99Leu) rs5744739
NM_006231.3(POLE):c.2974G>A (p.Ala992Thr) rs115193764
NM_006231.3(POLE):c.2993C>T (p.Thr998Met) rs989886155
NM_006231.3(POLE):c.2T>A (p.Met1Lys) rs879254126
NM_006231.3(POLE):c.2T>C (p.Met1Thr) rs879254126
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.3151T>C (p.Ser1051Pro) rs1064796258
NM_006231.3(POLE):c.3229C>T (p.Arg1077Cys) rs149777592
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.3311C>T (p.Thr1104Met) rs531705054
NM_006231.3(POLE):c.3373C>T (p.Arg1125Ter) rs139603739
NM_006231.3(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer) rs1555225201
NM_006231.3(POLE):c.347T>C (p.Val116Ala) rs771744496
NM_006231.3(POLE):c.3497G>A (p.Trp1166Ter) rs1426673673
NM_006231.3(POLE):c.355T>A (p.Phe119Ile) rs879254235
NM_006231.3(POLE):c.3595G>A (p.Glu1199Lys) rs1012418859
NM_006231.3(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.3(POLE):c.3716A>G (p.Gln1239Arg) rs146210785
NM_006231.3(POLE):c.3718G>A (p.Glu1240Lys) rs113594027
NM_006231.3(POLE):c.3808G>A (p.Val1270Ile) rs199574832
NM_006231.3(POLE):c.3857G>A (p.Arg1286His) rs771823596
NM_006231.3(POLE):c.3858_3881del (p.Ala1288_Leu1295del) rs759449495
NM_006231.3(POLE):c.3862G>A (p.Ala1288Thr) rs200398117
NM_006231.3(POLE):c.3881G>A (p.Arg1294His) rs115455318
NM_006231.3(POLE):c.3913G>A (p.Gly1305Arg) rs563990655
NM_006231.3(POLE):c.3971G>A (p.Arg1324His) rs143981093
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.4077G>T (p.Arg1359Ser) rs1064796047
NM_006231.3(POLE):c.4102G>A (p.Val1368Met) rs770558983
NM_006231.3(POLE):c.4149+2T>C rs1064796760
NM_006231.3(POLE):c.4168C>T (p.Arg1390Cys) rs768504121
NM_006231.3(POLE):c.4169G>A (p.Arg1390His) rs200776293
NM_006231.3(POLE):c.4172C>G (p.Ser1391Cys) rs149145495
NM_006231.3(POLE):c.4244A>G (p.Asn1415Ser) rs748378612
NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr) rs146711942
NM_006231.3(POLE):c.4267A>G (p.Ile1423Val) rs139498590
NM_006231.3(POLE):c.4370G>T (p.Gly1457Val) rs776534749
NM_006231.3(POLE):c.4390G>C (p.Ala1464Pro) rs778717624
NM_006231.3(POLE):c.4445G>A (p.Gly1482Glu) rs1555222946
NM_006231.3(POLE):c.4461C>T (p.Ile1487=) rs536917758
NM_006231.3(POLE):c.446A>G (p.Lys149Arg) rs374428362
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.4525A>G (p.Arg1509Gly) rs1060500816
NM_006231.3(POLE):c.4534G>A (p.Val1512Ile) rs147354120
NM_006231.3(POLE):c.4541T>C (p.Val1514Ala) rs116742454
NM_006231.3(POLE):c.4552-5T>A rs1064795991
NM_006231.3(POLE):c.4603G>A (p.Gly1535Ser) rs138564205
NM_006231.3(POLE):c.461G>A (p.Arg154Lys) rs769882912
NM_006231.3(POLE):c.4647dup (p.Lys1550fs) rs754220952
NM_006231.3(POLE):c.4680C>T (p.Asp1560=) rs774425403
NM_006231.3(POLE):c.4730A>C (p.Glu1577Ala) rs5744948
NM_006231.3(POLE):c.4792A>C (p.Ser1598Arg) rs776538943
NM_006231.3(POLE):c.4812G>C (p.Glu1604Asp) rs1064794898
NM_006231.3(POLE):c.4857_4858insA (p.Gly1620fs) rs1432073374
NM_006231.3(POLE):c.4872G>A (p.Trp1624Ter) rs754982151
NM_006231.3(POLE):c.4873C>G (p.Gln1625Glu) rs1064794648
NM_006231.3(POLE):c.4891C>T (p.Arg1631Cys) rs565413729
NM_006231.3(POLE):c.4892G>A (p.Arg1631His) rs775590365
NM_006231.3(POLE):c.4901G>A (p.Arg1634His) rs760149463
NM_006231.3(POLE):c.4942G>A (p.Glu1648Lys) rs532781183
NM_006231.3(POLE):c.5036G>T (p.Arg1679Leu) rs748940418
NM_006231.3(POLE):c.5090A>G (p.Lys1697Arg) rs879254207
NM_006231.3(POLE):c.5125G>A (p.Asp1709Asn) rs572502366
NM_006231.3(POLE):c.5174T>C (p.Val1725Ala) rs1064796427
NM_006231.3(POLE):c.5215A>G (p.Ile1739Val) rs1064794641
NM_006231.3(POLE):c.5237A>G (p.Asn1746Ser) rs377461656
NM_006231.3(POLE):c.5237A>T (p.Asn1746Ile) rs377461656
NM_006231.3(POLE):c.5278G>A (p.Val1760Met) rs373272795
NM_006231.3(POLE):c.5312C>T (p.Thr1771Met) rs777695766
NM_006231.3(POLE):c.5361del (p.Cys1788fs) rs752558475
NM_006231.3(POLE):c.5480C>T (p.Ser1827Leu) rs763031537
NM_006231.3(POLE):c.553G>A (p.Asp185Asn) rs369506007
NM_006231.3(POLE):c.5553-12C>G rs766922669
NM_006231.3(POLE):c.5553-1G>A rs1064796152
NM_006231.3(POLE):c.5596G>A (p.Ala1866Thr) rs377662540
NM_006231.3(POLE):c.5633G>A (p.Arg1878His) rs374022997
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.5662G>A (p.Glu1888Lys) rs368363850
NM_006231.3(POLE):c.5678+5G>A rs779223088
NM_006231.3(POLE):c.5726G>A (p.Arg1909Gln) rs201455049
NM_006231.3(POLE):c.5770G>A (p.Gly1924Arg) rs371862779
NM_006231.3(POLE):c.577A>G (p.Ser193Gly) rs760588718
NM_006231.3(POLE):c.5792C>T (p.Ser1931Phe) rs879254232
NM_006231.3(POLE):c.5794C>T (p.Arg1932Cys) rs879254168
NM_006231.3(POLE):c.5866G>A (p.Glu1956Lys) rs749992643
NM_006231.3(POLE):c.5900C>T (p.Ala1967Val) rs201273415
NM_006231.3(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579
NM_006231.3(POLE):c.5966C>G (p.Ala1989Gly) rs745501021
NM_006231.3(POLE):c.602T>C (p.Ile201Thr) rs375209004
NM_006231.3(POLE):c.6068C>T (p.Thr2023Ile) rs771628123
NM_006231.3(POLE):c.6086G>A (p.Gly2029Glu) rs879254239
NM_006231.3(POLE):c.6112G>A (p.Glu2038Lys) rs181570274
NM_006231.3(POLE):c.6232C>T (p.Arg2078Trp) rs1060500867
NM_006231.3(POLE):c.631A>T (p.Ile211Leu) rs1064796126
NM_006231.3(POLE):c.6334C>G (p.Leu2112Val) rs373443211
NM_006231.3(POLE):c.6418del (p.Glu2140fs) rs1064794703
NM_006231.3(POLE):c.6446G>A (p.Arg2149His) rs201165149
NM_006231.3(POLE):c.6446G>T (p.Arg2149Leu) rs201165149
NM_006231.3(POLE):c.6457del (p.Leu2153fs) rs1064794611
NM_006231.3(POLE):c.6466G>A (p.Val2156Ile) rs542978638
NM_006231.3(POLE):c.6516_6517CT[1] (p.Ser2173fs) rs774417192
NM_006231.3(POLE):c.6537_6541del (p.Ala2180fs) rs879254107
NM_006231.3(POLE):c.6539C>T (p.Ala2180Val) rs552452448
NM_006231.3(POLE):c.664C>G (p.Arg222Gly) rs767503360
NM_006231.3(POLE):c.6658-7C>A rs531482240
NM_006231.3(POLE):c.665G>A (p.Arg222His) rs1060500862
NM_006231.3(POLE):c.6668A>G (p.Lys2223Arg) rs367970442
NM_006231.3(POLE):c.6674G>A (p.Arg2225His) rs538875477
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.6763A>G (p.Ile2255Val) rs73155056
NM_006231.3(POLE):c.6775C>T (p.Arg2259Trp) rs866548835
NM_006231.3(POLE):c.691C>T (p.Arg231Cys) rs146592584
NM_006231.3(POLE):c.712A>T (p.Ile238Phe) rs536684123
NM_006231.3(POLE):c.73G>A (p.Ala25Thr) rs773204331
NM_006231.3(POLE):c.797G>A (p.Arg266Gln) rs115786159
NM_006231.3(POLE):c.823G>C (p.Asp275His) rs879254218
NM_006231.3(POLE):c.850A>G (p.Lys284Glu) rs568483856
NM_006231.3(POLE):c.850_851del (p.Lys284fs) rs1555229421
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
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

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