ClinVar Miner

Variants in gene POLE with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 100
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HGVS dbSNP
NM_006231.3(POLE):c.-6G>A rs534524789
NM_006231.3(POLE):c.1020+5_1020+6delinsAA rs1064795707
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) rs137860861
NM_006231.3(POLE):c.1188G>A (p.Glu396=) rs371717068
NM_006231.3(POLE):c.1242C>T (p.Asp414=) rs775213170
NM_006231.3(POLE):c.1282G>A (p.Ala428Thr) rs150032060
NM_006231.3(POLE):c.1347G>A (p.Thr449=) rs142373951
NM_006231.3(POLE):c.155G>A (p.Arg52Gln) rs372459649
NM_006231.3(POLE):c.1608T>C (p.Ser536=) rs763078534
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.1707C>G (p.Phe569Leu) rs147438050
NM_006231.3(POLE):c.1924-23_1927del rs1064795679
NM_006231.3(POLE):c.1924-6del rs758112633
NM_006231.3(POLE):c.2016G>A (p.Arg672=) rs991583405
NM_006231.3(POLE):c.2174-11G>A rs111570840
NM_006231.3(POLE):c.2510T>C (p.Phe837Ser) rs139182500
NM_006231.3(POLE):c.2682C>T (p.Gly894=) rs757453683
NM_006231.3(POLE):c.2707-9G>A rs1057521516
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.2864+3G>A rs1060500856
NM_006231.3(POLE):c.2865-3C>T rs1203095918
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.3219G>T (p.Gly1073=) rs760636704
NM_006231.3(POLE):c.3270G>A (p.Thr1090=) rs758258927
NM_006231.3(POLE):c.330+3G>A rs369152225
NM_006231.3(POLE):c.331-3T>C rs1269825866
NM_006231.3(POLE):c.3582+6G>A rs113307290
NM_006231.3(POLE):c.3698G>A (p.Arg1233Gln) rs201738371
NM_006231.3(POLE):c.3763T>C (p.Leu1255=) rs745838504
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.3904C>T (p.Leu1302Phe) rs1555223949
NM_006231.3(POLE):c.3913G>A (p.Gly1305Arg) rs563990655
NM_006231.3(POLE):c.391G>T (p.Val131Leu) rs745601745
NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) rs141619382
NM_006231.3(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933
NM_006231.3(POLE):c.4237G>A (p.Glu1413Lys) rs372901803
NM_006231.3(POLE):c.4370G>T (p.Gly1457Val) rs776534749
NM_006231.3(POLE):c.4371C>T (p.Gly1457=) rs771489059
NM_006231.3(POLE):c.4445-3C>T rs1555222948
NM_006231.3(POLE):c.4450A>C (p.Ile1484Leu) rs772734618
NM_006231.3(POLE):c.4461C>T (p.Ile1487=) rs536917758
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.4552-4C>G rs913720556
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.4731G>A (p.Glu1577=) rs772361606
NM_006231.3(POLE):c.5013C>A (p.Leu1671=) rs1260912213
NM_006231.3(POLE):c.5379-5T>C rs761910924
NM_006231.3(POLE):c.5659G>A (p.Val1887Met) rs114119067
NM_006231.3(POLE):c.5678+3G>A rs1060500826
NM_006231.3(POLE):c.5678+6G>A rs551185075
NM_006231.3(POLE):c.5679-3C>T rs1555221512
NM_006231.3(POLE):c.5769C>T (p.Gly1923=) rs375198950
NM_006231.3(POLE):c.5900C>T (p.Ala1967Val) rs201273415
NM_006231.3(POLE):c.6012C>T (p.Ile2004=) rs147806951
NM_006231.3(POLE):c.602T>C (p.Ile201Thr) rs375209004
NM_006231.3(POLE):c.6156G>A (p.Gln2052=) rs149841283
NM_006231.3(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.3(POLE):c.6408C>T (p.Gly2136=) rs1057524549
NM_006231.3(POLE):c.6453C>T (p.Tyr2151=) rs116076060
NM_006231.3(POLE):c.6531+6G>T rs774747998
NM_006231.3(POLE):c.6539C>T (p.Ala2180Val) rs552452448
NM_006231.3(POLE):c.664C>T (p.Arg222Cys) rs767503360
NM_006231.3(POLE):c.6716C>T (p.Ala2239Val) rs190813054
NM_006231.3(POLE):c.6777G>C (p.Arg2259=) rs540203276
NM_006231.3(POLE):c.691C>T (p.Arg231Cys) rs146592584
NM_006231.3(POLE):c.720+6T>C rs751448342
NM_006231.3(POLE):c.912C>T (p.Gly304=) rs1064794932
NM_006231.3(POLE):c.942A>C (p.Ser314=) rs548933169
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) rs113998091
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666
NM_006231.4(POLE):c.5562T>C (p.Ala1854=) rs1174721130
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558
NM_006231.4(POLE):c.6004+5G>T rs372169366
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6658-7C>A rs531482240
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442
NM_006231.4(POLE):c.6748-6C>T rs750255126
NM_006231.4(POLE):c.721-13GT[2] rs752682384
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803

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