ClinVar Miner

List of variants in gene POLE reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP
NM_006231.3(POLE):c.*4G>T rs1555300702
NM_006231.3(POLE):c.-4C>T rs776115380
NM_006231.3(POLE):c.1000G>A (p.Val334Ile) rs1555229285
NM_006231.3(POLE):c.1015G>A (p.Asp339Asn) rs149029910
NM_006231.3(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.3(POLE):c.1021G>C (p.Ala341Pro) rs137860861
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) rs137860861
NM_006231.3(POLE):c.1038G>T (p.Arg346Ser) rs1193021447
NM_006231.3(POLE):c.1040G>A (p.Trp347Ter) rs1555229236
NM_006231.3(POLE):c.1041G>T (p.Trp347Cys) rs1048183984
NM_006231.3(POLE):c.1046A>G (p.Glu349Gly) rs1555229230
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.1066C>T (p.Pro356Ser) rs1555229220
NM_006231.3(POLE):c.1088A>G (p.Asn363Ser) rs879254173
NM_006231.3(POLE):c.1108C>A (p.Pro370Thr) rs576578672
NM_006231.3(POLE):c.1118A>T (p.Glu373Val) rs1555229138
NM_006231.3(POLE):c.1129G>A (p.Ala377Thr) rs754508108
NM_006231.3(POLE):c.1138G>A (p.Gly380Ser) rs199746481
NM_006231.3(POLE):c.1138G>T (p.Gly380Cys) rs199746481
NM_006231.3(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.3(POLE):c.1175A>G (p.Asp392Gly) rs878854840
NM_006231.3(POLE):c.1184G>A (p.Gly395Glu) rs546499094
NM_006231.3(POLE):c.1193A>G (p.Lys398Arg) rs1402549512
NM_006231.3(POLE):c.1203G>C (p.Gln401His) rs1060500810
NM_006231.3(POLE):c.1226+1G>A rs778501724
NM_006231.3(POLE):c.1231G>A (p.Val411Met) rs1057519945
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.1277C>T (p.Ala426Val) rs374920539
NM_006231.3(POLE):c.1280C>T (p.Ala427Val) rs878854841
NM_006231.3(POLE):c.1282G>A (p.Ala428Thr) rs150032060
NM_006231.3(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.3(POLE):c.1297G>T (p.Gly433Cys) rs1190891892
NM_006231.3(POLE):c.1309G>A (p.Val437Met) rs115047349
NM_006231.3(POLE):c.1322C>G (p.Pro441Arg) rs775340163
NM_006231.3(POLE):c.1322C>T (p.Pro441Leu) rs775340163
NM_006231.3(POLE):c.1328A>G (p.Asp443Gly) rs1555228601
NM_006231.3(POLE):c.1337G>A (p.Arg446Gln) rs151273553
NM_006231.3(POLE):c.1339A>C (p.Met447Leu) rs376095661
NM_006231.3(POLE):c.1339A>G (p.Met447Val) rs376095661
NM_006231.3(POLE):c.1346C>T (p.Thr449Met) rs780299012
NM_006231.3(POLE):c.1357C>G (p.Gln453Glu) rs781360770
NM_006231.3(POLE):c.1359+4C>A rs752118019
NM_006231.3(POLE):c.1370C>T (p.Thr457Met) rs878854842
NM_006231.3(POLE):c.1376C>G (p.Ser459Cys) rs765702675
NM_006231.3(POLE):c.1378G>A (p.Val460Met) rs753586583
NM_006231.3(POLE):c.1390G>A (p.Val464Ile) rs1555228496
NM_006231.3(POLE):c.1393G>A (p.Ala465Thr) rs771526654
NM_006231.3(POLE):c.1394C>T (p.Ala465Val) rs1555228490
NM_006231.3(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.3(POLE):c.1405C>G (p.Leu469Val) rs368303888
NM_006231.3(POLE):c.1411A>G (p.Met471Val) rs749021187
NM_006231.3(POLE):c.1419C>G (p.Tyr473Ter) rs369961557
NM_006231.3(POLE):c.1423C>A (p.His475Asn) rs952195021
NM_006231.3(POLE):c.1439C>T (p.Ala480Val) rs951851739
NM_006231.3(POLE):c.1447A>G (p.Thr483Ala) rs777736640
NM_006231.3(POLE):c.1467_1468del (p.Asp490fs) rs1060500792
NM_006231.3(POLE):c.1567dup (p.Glu523fs) rs1555228310
NM_006231.3(POLE):c.1574A>G (p.Asn525Ser) rs74878897
NM_006231.3(POLE):c.1583C>T (p.Thr528Met) rs116263919
NM_006231.3(POLE):c.1597G>A (p.Val533Met) rs374140892
NM_006231.3(POLE):c.1642G>T (p.Glu548Ter) rs908638591
NM_006231.3(POLE):c.1687-3T>G rs148115738
NM_006231.3(POLE):c.1687-4C>T rs375705244
NM_006231.3(POLE):c.1780A>G (p.Thr594Ala) rs762067222
NM_006231.3(POLE):c.1794+5C>A rs200095915
NM_006231.3(POLE):c.1794+5C>T rs200095915
NM_006231.3(POLE):c.1868A>G (p.Tyr623Cys) rs150564856
NM_006231.3(POLE):c.1924-5C>T rs878854846
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.2026+3G>T rs749631362
NM_006231.3(POLE):c.206_211delCCGAGA rs1555230325
NM_006231.3(POLE):c.2087C>T (p.Pro696Leu) rs766037063
NM_006231.3(POLE):c.2089C>G (p.Pro697Ala) rs5744800
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.2140del (p.Glu714fs) rs1555227239
NM_006231.3(POLE):c.2171C>T (p.Ala724Val) rs61734163
NM_006231.3(POLE):c.2173+5G>A rs878854849
NM_006231.3(POLE):c.2187_2199delinsGT (p.Ala730fs) rs1555227130
NM_006231.3(POLE):c.2255_2257del (p.Ser752del) rs878854850
NM_006231.3(POLE):c.2468+4G>A rs1555226663
NM_006231.3(POLE):c.2510T>C (p.Phe837Ser) rs139182500
NM_006231.3(POLE):c.2561+5G>A rs1555226494
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.2706+5G>A rs375931088
NM_006231.3(POLE):c.2725dup (p.Gln909fs) rs1555226059
NM_006231.3(POLE):c.274A>C (p.Ser92Arg) rs758382516
NM_006231.3(POLE):c.285G>A (p.Lys95=) rs1060500794
NM_006231.3(POLE):c.2865-4T>C rs1060500840
NM_006231.3(POLE):c.2879A>G (p.Asn960Ser) rs746311547
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.3229C>T (p.Arg1077Cys) rs149777592
NM_006231.3(POLE):c.3230G>A (p.Arg1077His) rs768950975
NM_006231.3(POLE):c.3276-5C>G rs1293099867
NM_006231.3(POLE):c.330+3G>A rs369152225
NM_006231.3(POLE):c.331-3T>G rs1269825866
NM_006231.3(POLE):c.3327dup (p.Leu1110fs) rs1555225319
NM_006231.3(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer) rs1555225201
NM_006231.3(POLE):c.3582+5C>T rs775661457
NM_006231.3(POLE):c.3583-3C>T rs371139965
NM_006231.3(POLE):c.3590delinsGGTCTGA (p.Met1197delinsArgSerGlu) rs1555224131
NM_006231.3(POLE):c.3612dup (p.Pro1205fs) rs1555224123
NM_006231.3(POLE):c.3652G>A (p.Val1218Ile) rs756246229
NM_006231.3(POLE):c.3672_3674dupAGC rs750939989
NM_006231.3(POLE):c.3698G>A (p.Arg1233Gln) rs201738371
NM_006231.3(POLE):c.3718G>A (p.Glu1240Lys) rs113594027
NM_006231.3(POLE):c.3721G>T (p.Glu1241Ter) rs779261309
NM_006231.3(POLE):c.3851G>A (p.Arg1284Gln) rs149462407
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.3865C>T (p.Arg1289Cys) rs770036124
NM_006231.3(POLE):c.3942del (p.Leu1315fs) rs1555223939
NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) rs141619382
NM_006231.3(POLE):c.4111C>T (p.Arg1371Ter) rs151278283
NM_006231.3(POLE):c.4149+3A>C rs1358505756
NM_006231.3(POLE):c.4169G>A (p.Arg1390His) rs200776293
NM_006231.3(POLE):c.424-1G>A rs1555230115
NM_006231.3(POLE):c.424-3T>C rs1555230120
NM_006231.3(POLE):c.431A>G (p.His144Arg) rs755709875
NM_006231.3(POLE):c.4370G>T (p.Gly1457Val) rs776534749
NM_006231.3(POLE):c.4445-2A>G rs766538692
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.4552-5T>A rs1064795991
NM_006231.3(POLE):c.4708C>T (p.Arg1570Ter) rs1037592848
NM_006231.3(POLE):c.4872G>A (p.Trp1624Ter) rs754982151
NM_006231.3(POLE):c.4952+5G>A rs1555222548
NM_006231.3(POLE):c.4953-5T>G rs757060708
NM_006231.3(POLE):c.5016_5018delCTT rs1555222501
NM_006231.3(POLE):c.5032C>T (p.Gln1678Ter) rs1301816028
NM_006231.3(POLE):c.5093_5095delAGG rs1555222471
NM_006231.3(POLE):c.5119dup (p.Glu1707fs) rs1555222457
NM_006231.3(POLE):c.5173+1G>T rs1060500866
NM_006231.3(POLE):c.5174-1G>T rs5744954
NM_006231.3(POLE):c.5237A>T (p.Asn1746Ile) rs377461656
NM_006231.3(POLE):c.5367dup (p.Asn1790Ter) rs959133191
NM_006231.3(POLE):c.5379-3C>G rs1415497701
NM_006231.3(POLE):c.5379-5T>C rs761910924
NM_006231.3(POLE):c.5552+1G>T rs1555221894
NM_006231.3(POLE):c.5636G>A (p.Arg1879His) rs145621558
NM_006231.3(POLE):c.5672_5674del (p.Thr1891del) rs769630098
NM_006231.3(POLE):c.5678+5G>A rs779223088
NM_006231.3(POLE):c.5725C>T (p.Arg1909Ter) rs1380204151
NM_006231.3(POLE):c.5811+5G>A rs562946055
NM_006231.3(POLE):c.5811G>A (p.Leu1937=) rs368174082
NM_006231.3(POLE):c.5812-4A>G rs377036606
NM_006231.3(POLE):c.5829_5830del (p.Gly1945fs) rs878854885
NM_006231.3(POLE):c.5901_5903GGA[3] (p.Glu1969dup) rs754275919
NM_006231.3(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579
NM_006231.3(POLE):c.6005-3C>T rs1555221015
NM_006231.3(POLE):c.6088del (p.Ala2030fs) rs1060500809
NM_006231.3(POLE):c.6089_6090delinsG (p.Ala2030fs) rs1555220965
NM_006231.3(POLE):c.6244_6248del (p.Glu2082fs) rs1555220891
NM_006231.3(POLE):c.6408C>T (p.Gly2136=) rs1057524549
NM_006231.3(POLE):c.6518_6519delCT rs774417192
NM_006231.3(POLE):c.6531+4C>T rs772586175
NM_006231.3(POLE):c.6531+5G>A rs368538240
NM_006231.3(POLE):c.6585_6587CTC[1] (p.Ser2197del) rs1188033351
NM_006231.3(POLE):c.662T>C (p.Met221Thr) rs755607944
NM_006231.3(POLE):c.6668A>G (p.Lys2223Arg) rs367970442
NM_006231.3(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.3(POLE):c.6747+5G>A rs1555300791
NM_006231.3(POLE):c.6803C>T (p.Ser2268Leu) rs373791036
NM_006231.3(POLE):c.6847C>T (p.Gln2283Ter) rs1267521228
NM_006231.3(POLE):c.712A>T (p.Ile238Phe) rs536684123
NM_006231.3(POLE):c.721-4G>T rs765420775
NM_006231.3(POLE):c.802-5C>A rs376302620
NM_006231.3(POLE):c.808G>A (p.Val270Met) rs374237142
NM_006231.3(POLE):c.825C>G (p.Asp275Glu) rs1483809345
NM_006231.3(POLE):c.833C>T (p.Thr278Met) rs764254754
NM_006231.3(POLE):c.840A>C (p.Lys280Asn) rs908089476
NM_006231.3(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.3(POLE):c.850A>G (p.Lys284Glu) rs568483856
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.869C>T (p.Thr290Ile) rs1555229412
NM_006231.3(POLE):c.882G>A (p.Met294Ile) rs774328855
NM_006231.3(POLE):c.895A>G (p.Met299Val) rs370727992
NM_006231.3(POLE):c.902A>G (p.Asp301Gly) rs1060500828
NM_006231.3(POLE):c.910-4C>G rs1555229332
NM_006231.3(POLE):c.916C>T (p.Leu306Phe) rs1343048638
NM_006231.3(POLE):c.926A>G (p.Asn309Ser) rs767060387
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.947A>G (p.Asp316Gly) rs1555229304
NM_006231.3(POLE):c.950T>C (p.Ile317Thr) rs1060500783
NM_006231.3(POLE):c.950T>G (p.Ile317Ser) rs1060500783
NM_006231.3(POLE):c.955G>A (p.Asp319Asn) rs116162724
NM_006231.3(POLE):c.964T>C (p.Phe322Leu) rs1555229294
NM_006231.3(POLE):c.983A>G (p.Tyr328Cys) rs1339375099
NM_006231.3(POLE):c.992C>T (p.Pro331Leu) rs1440925386

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