ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP
NM_006231.3(POLE):c.1019A>T (p.Glu340Val) rs895236041
NM_006231.3(POLE):c.101G>T (p.Arg34Leu) rs747005851
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) rs137860861
NM_006231.3(POLE):c.1242C>T (p.Asp414=) rs775213170
NM_006231.3(POLE):c.1274A>G (p.Lys425Arg) rs757186755
NM_006231.3(POLE):c.1337G>A (p.Arg446Gln) rs151273553
NM_006231.3(POLE):c.1359+5G>A rs761564635
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.154C>T (p.Arg52Trp) rs115452881
NM_006231.3(POLE):c.1583C>T (p.Thr528Met) rs116263919
NM_006231.3(POLE):c.1608T>C (p.Ser536=) rs763078534
NM_006231.3(POLE):c.1729A>G (p.Thr577Ala) rs1565970674
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.1847G>A (p.Arg616His) rs764558974
NM_006231.3(POLE):c.1861C>T (p.Leu621Phe) rs945099471
NM_006231.3(POLE):c.1868A>G (p.Tyr623Cys) rs150564856
NM_006231.3(POLE):c.1924-6del rs758112633
NM_006231.3(POLE):c.1A>C (p.Met1Leu) rs878854847
NM_006231.3(POLE):c.2054G>A (p.Arg685Gln) rs770597683
NM_006231.3(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_006231.3(POLE):c.2085C>T (p.Phe695=) rs1060500837
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.2292G>A (p.Arg764=) rs1555227097
NM_006231.3(POLE):c.2321T>C (p.Val774Ala) rs771591846
NM_006231.3(POLE):c.2363C>T (p.Ala788Val) rs1060500813
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.2469-5C>T rs1565961371
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.2575C>T (p.Leu859=) rs1565960909
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.272G>A (p.Gly91Glu) rs376348304
NM_006231.3(POLE):c.2770C>T (p.Arg924Cys) rs369751686
NM_006231.3(POLE):c.2773T>C (p.Ser925Pro) rs141552148
NM_006231.3(POLE):c.2865-6_2865-4del rs369732588
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.3142G>A (p.Glu1048Lys) rs1164020030
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.3367G>C (p.Asp1123His) rs1565953965
NM_006231.3(POLE):c.3377C>T (p.Ala1126Val) rs373707446
NM_006231.3(POLE):c.3587C>T (p.Thr1196Met) rs866237249
NM_006231.3(POLE):c.3614C>A (p.Pro1205Gln) rs772686048
NM_006231.3(POLE):c.3652G>A (p.Val1218Ile) rs756246229
NM_006231.3(POLE):c.3669_3671AGC[3] (p.Ala1225dup) rs750939989
NM_006231.3(POLE):c.3677C>T (p.Pro1226Leu) rs1390451656
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.3740C>T (p.Pro1247Leu) rs572986717
NM_006231.3(POLE):c.3745G>A (p.Val1249Met) rs762626359
NM_006231.3(POLE):c.3763T>C (p.Leu1255=) rs745838504
NM_006231.3(POLE):c.3778G>A (p.Ala1260Thr) rs143858927
NM_006231.3(POLE):c.3794A>T (p.Gln1265Leu) rs1555224038
NM_006231.3(POLE):c.3881G>A (p.Arg1294His) rs115455318
NM_006231.3(POLE):c.3922C>T (p.Arg1308Trp) rs763854815
NM_006231.3(POLE):c.3926A>G (p.Asp1309Gly) rs776828609
NM_006231.3(POLE):c.3970C>T (p.Arg1324Cys) rs779464847
NM_006231.3(POLE):c.3971G>A (p.Arg1324His) rs143981093
NM_006231.3(POLE):c.4046C>T (p.Ala1349Val) rs536988344
NM_006231.3(POLE):c.404C>A (p.Pro135His) rs1565980234
NM_006231.3(POLE):c.4051G>A (p.Val1351Ile) rs138443282
NM_006231.3(POLE):c.4055G>C (p.Gly1352Ala) rs147088333
NM_006231.3(POLE):c.4157G>A (p.Arg1386Gln) rs969355093
NM_006231.3(POLE):c.4169G>A (p.Arg1390His) rs200776293
NM_006231.3(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933
NM_006231.3(POLE):c.4220A>G (p.Tyr1407Cys) rs775556994
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.427A>G (p.Asn143Asp)
NM_006231.3(POLE):c.4290+1G>A rs1565940214
NM_006231.3(POLE):c.4450A>G (p.Ile1484Val) rs772734618
NM_006231.3(POLE):c.446A>G (p.Lys149Arg) rs374428362
NM_006231.3(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
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+10G>A rs1565938933
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.4587G>A (p.Leu1529=) rs1565938547
NM_006231.3(POLE):c.461G>A (p.Arg154Lys) rs769882912
NM_006231.3(POLE):c.4731G>A (p.Glu1577=) rs772361606
NM_006231.3(POLE):c.4736G>A (p.Arg1579His) rs375590443
NM_006231.3(POLE):c.4831A>C (p.Ile1611Leu) rs551368454
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.5002G>A (p.Gly1668Ser) rs371348453
NM_006231.3(POLE):c.5060C>A (p.Ser1687Tyr) rs1565936909
NM_006231.3(POLE):c.5090_5092AGG[1] (p.Glu1698del) rs1555222471
NM_006231.3(POLE):c.5125G>A (p.Asp1709Asn) rs572502366
NM_006231.3(POLE):c.5215A>G (p.Ile1739Val) rs1064794641
NM_006231.3(POLE):c.5398G>A (p.Val1800Met) rs199777048
NM_006231.3(POLE):c.5476C>T (p.Arg1826Trp) rs762000608
NM_006231.3(POLE):c.5507C>T (p.Ala1836Val) rs780776704
NM_006231.3(POLE):c.553G>A (p.Asp185Asn) rs369506007
NM_006231.3(POLE):c.556G>A (p.Ala186Thr) rs375213599
NM_006231.3(POLE):c.5572C>T (p.Arg1858Cys) rs1193081581
NM_006231.3(POLE):c.5607C>T (p.Asn1869=) rs1565932038
NM_006231.3(POLE):c.5633G>A (p.Arg1878His) rs374022997
NM_006231.3(POLE):c.5653G>A (p.Ala1885Thr) rs748008084
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.5907A>C (p.Glu1969Asp)
NM_006231.3(POLE):c.590G>C (p.Arg197Thr) rs528361482
NM_006231.3(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.3(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.3(POLE):c.6068C>T (p.Thr2023Ile) rs771628123
NM_006231.3(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616
NM_006231.3(POLE):c.6166G>A (p.Ala2056Thr) rs58916399
NM_006231.3(POLE):c.6328A>G (p.Lys2110Glu) rs746736600
NM_006231.3(POLE):c.6391C>T (p.Arg2131Cys) rs369748519
NM_006231.3(POLE):c.6454G>A (p.Val2152Met) rs138789360
NM_006231.3(POLE):c.6476G>A (p.Arg2159His) rs373092830
NM_006231.3(POLE):c.6531+5G>A rs368538240
NM_006231.3(POLE):c.6531+6G>T rs774747998
NM_006231.3(POLE):c.6590C>T (p.Ser2197Phe) rs1489412079
NM_006231.3(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.3(POLE):c.6716C>T (p.Ala2239Val) rs190813054
NM_006231.3(POLE):c.6730C>T (p.Leu2244Phe) rs375741031
NM_006231.3(POLE):c.6734C>G (p.Thr2245Ser) rs747676884
NM_006231.3(POLE):c.6765C>G (p.Ile2255Met)
NM_006231.3(POLE):c.6777G>C (p.Arg2259=) rs540203276
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.808G>A (p.Val270Met) rs374237142
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.87T>G (p.Val29=) rs1565981775
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.942A>C (p.Ser314=) rs548933169
NM_006231.3(POLE):c.950T>G (p.Ile317Ser) rs1060500783

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