ClinVar Miner

List of variants in gene POLE reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP
NM_006231.3(POLE):c.1007A>G (p.Asn336Ser) rs5744760
NM_006231.3(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.3(POLE):c.1055A>C (p.Gln352Pro) rs766094330
NM_006231.3(POLE):c.1106+7C>A rs369889926
NM_006231.3(POLE):c.1171_1173delAAG (p.Lys391del) rs753999122
NM_006231.3(POLE):c.1181delA (p.Gln394Argfs) rs764289504
NM_006231.3(POLE):c.1226+13G>A rs577646338
NM_006231.3(POLE):c.1227-2A>T rs1057517609
NM_006231.3(POLE):c.1274A>G (p.Lys425Arg) rs757186755
NM_006231.3(POLE):c.1284del (p.Lys429Argfs) rs1057517613
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.1359+18C>T rs5744775
NM_006231.3(POLE):c.1359+9G>A rs75135381
NM_006231.3(POLE):c.1360-20C>G rs781212006
NM_006231.3(POLE):c.1378G>A (p.Val460Met) rs753586583
NM_006231.3(POLE):c.138delG (p.Leu46Phefs) rs1555230420
NM_006231.3(POLE):c.1420G>A (p.Val474Ile) rs980578884
NM_006231.3(POLE):c.1467_1468delCG (p.Asp490Argfs) rs1060500792
NM_006231.3(POLE):c.1470C>T (p.Asp490=) rs5744777
NM_006231.3(POLE):c.1473+19G>A rs1057517628
NM_006231.3(POLE):c.1474-13G>A rs1555228383
NM_006231.3(POLE):c.1478del (p.Leu493Argfs) rs760070332
NM_006231.3(POLE):c.1524G>T (p.Gln508His) rs762030811
NM_006231.3(POLE):c.1641C>A (p.Leu547=) rs267603387
NM_006231.3(POLE):c.1687-13A>G rs527311638
NM_006231.3(POLE):c.1687-16C>G rs530732187
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.1795-14C>T rs369023182
NM_006231.3(POLE):c.1924-23_1927del27 rs1064795679
NM_006231.3(POLE):c.1924-6T>C rs755311168
NM_006231.3(POLE):c.1957G>T (p.Ala653Ser) rs751451482
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+14G>T rs751509566
NM_006231.3(POLE):c.2026+9C>T rs373790607
NM_006231.3(POLE):c.2027-16A>G rs1057517614
NM_006231.3(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.3(POLE):c.2174-11G>A rs111570840
NM_006231.3(POLE):c.2174-12C>G rs192222479
NM_006231.3(POLE):c.2174-15C>T rs750771177
NM_006231.3(POLE):c.2276G>A (p.Arg759His) rs746774432
NM_006231.3(POLE):c.2320-9G>T rs769834031
NM_006231.3(POLE):c.2343_2345delGGC (p.Ala782del) rs1064796065
NM_006231.3(POLE):c.2468+10C>T rs5744823
NM_006231.3(POLE):c.2468+19G>A rs768950827
NM_006231.3(POLE):c.2468+2dup rs1555226665
NM_006231.3(POLE):c.2550C>T (p.Ile850=) rs5744834
NM_006231.3(POLE):c.2561+6T>C rs116231808
NM_006231.3(POLE):c.2562-5T>G rs1461925348
NM_006231.3(POLE):c.2612G>C (p.Ser871Thr) rs770470552
NM_006231.3(POLE):c.2683G>A (p.Ala895Thr) rs201115064
NM_006231.3(POLE):c.2707-9G>A rs1057521516
NM_006231.3(POLE):c.2865-5_2865-4del rs369732588
NM_006231.3(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.3(POLE):c.2932dup (p.Glu978Glyfs) rs1032311596
NM_006231.3(POLE):c.2T>G (p.Met1Arg) rs879254126
NM_006231.3(POLE):c.3061-12G>C rs779496994
NM_006231.3(POLE):c.3265_3275+15dup rs1555225627
NM_006231.3(POLE):c.3275+12_3275+37dup rs1057517627
NM_006231.3(POLE):c.3275+14C>G rs368185422
NM_006231.3(POLE):c.3275+16A>G rs5744858
NM_006231.3(POLE):c.3338G>A (p.Trp1113Ter) rs1461016090
NM_006231.3(POLE):c.3378+10A>G rs193075152
NM_006231.3(POLE):c.3378+15C>T rs574954983
NM_006231.3(POLE):c.3378+7G>T rs755370377
NM_006231.3(POLE):c.3379-17G>A rs907214942
NM_006231.3(POLE):c.3379-18C>T rs1057517632
NM_006231.3(POLE):c.3459+2T>C rs1057517634
NM_006231.3(POLE):c.3629dup (p.Asp1211Terfs) rs1555224111
NM_006231.3(POLE):c.3672_3674dupAGC (p.Ala1225_Pro1226insAla) rs750939989
NM_006231.3(POLE):c.3890C>T (p.Ser1297Leu) rs746585658
NM_006231.3(POLE):c.4005+20G>A rs775205537
NM_006231.3(POLE):c.4111C>T (p.Arg1371Ter) rs151278283
NM_006231.3(POLE):c.4149+12C>G rs566422403
NM_006231.3(POLE):c.4150-12T>C rs551697046
NM_006231.3(POLE):c.4150-13G>A rs780409701
NM_006231.3(POLE):c.4150-6C>T rs756837862
NM_006231.3(POLE):c.423+20T>C rs201628896
NM_006231.3(POLE):c.424-10C>T rs748433747
NM_006231.3(POLE):c.424-2A>G rs1555230117
NM_006231.3(POLE):c.4244A>G (p.Asn1415Ser) rs748378612
NM_006231.3(POLE):c.4259C>T (p.Ala1420Val) rs41561818
NM_006231.3(POLE):c.4291-11G>A rs369564167
NM_006231.3(POLE):c.448C>T (p.Arg150Ter) rs775815329
NM_006231.3(POLE):c.4522C>T (p.Arg1508Cys) rs766511597
NM_006231.3(POLE):c.4603G>A (p.Gly1535Ser) rs138564205
NM_006231.3(POLE):c.4631dup (p.Leu1545Alafs) rs1555222731
NM_006231.3(POLE):c.4728+14_4728+21del rs1311664292
NM_006231.3(POLE):c.4729-13dup rs1057517615
NM_006231.3(POLE):c.4823T>G (p.Leu1608Arg) rs1255478620
NM_006231.3(POLE):c.4872G>A (p.Trp1624Ter) rs754982151
NM_006231.3(POLE):c.4952+11T>A rs779889181
NM_006231.3(POLE):c.4952+13C>T rs1057517612
NM_006231.3(POLE):c.4952+17C>T rs750268044
NM_006231.3(POLE):c.4952+17_4952+19dupCGT rs571641918
NM_006231.3(POLE):c.4952+20_4952+22del rs752389775
NM_006231.3(POLE):c.5173+10C>T rs371098994
NM_006231.3(POLE):c.5173+17A>G rs368209692
NM_006231.3(POLE):c.5174-17G>A rs201254290
NM_006231.3(POLE):c.5174-6G>C rs770466844
NM_006231.3(POLE):c.5379-19C>T rs376722984
NM_006231.3(POLE):c.5379-5T>C rs761910924
NM_006231.3(POLE):c.5398G>A (p.Val1800Met) rs199777048
NM_006231.3(POLE):c.5528_5530del (p.Asn1843del) rs868246375
NM_006231.3(POLE):c.5678+4C>T rs5744973
NM_006231.3(POLE):c.5679-14T>C rs1555221517
NM_006231.3(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991
NM_006231.3(POLE):c.5811+13C>T rs150195182
NM_006231.3(POLE):c.5811+16T>C rs115381003
NM_006231.3(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579
NM_006231.3(POLE):c.5965del (p.Ala1989Glnfs) rs1555221193
NM_006231.3(POLE):c.6004+11A>G rs201591857
NM_006231.3(POLE):c.6004+5G>T rs372169366
NM_006231.3(POLE):c.6236_6254del (p.Asn2079Argfs) rs765923256
NM_006231.3(POLE):c.63-14C>T rs373998767
NM_006231.3(POLE):c.6331-8C>T rs769766403
NM_006231.3(POLE):c.6379C>T (p.Arg2127Ter) rs1057517583
NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys) rs5745066
NM_006231.3(POLE):c.6494G>A (p.Arg2165His) rs5745068
NM_006231.3(POLE):c.6518_6519delCT (p.Ser2173Phefs) rs774417192
NM_006231.3(POLE):c.6531+5G>A rs368538240
NM_006231.3(POLE):c.6531+6G>T rs774747998
NM_006231.3(POLE):c.6532-11G>C rs372829291
NM_006231.3(POLE):c.6532-19G>T rs201114228
NM_006231.3(POLE):c.6532-21_6532-20del rs1555301127
NM_006231.3(POLE):c.6588_6590delCTC (p.Ser2197del) rs1188033351
NM_006231.3(POLE):c.6657+16C>T rs5745075
NM_006231.3(POLE):c.6658-12G>C rs1555300850
NM_006231.3(POLE):c.6658-19C>G rs5745081
NM_006231.3(POLE):c.6658-1G>A rs1555300846
NM_006231.3(POLE):c.6658-7C>A rs531482240
NM_006231.3(POLE):c.6668A>G (p.Lys2223Arg) rs367970442
NM_006231.3(POLE):c.6682_6684delAAG (p.Lys2228del) rs878854896
NM_006231.3(POLE):c.6763A>T (p.Ile2255Phe) rs73155056
NM_006231.3(POLE):c.6817A>T (p.Thr2273Ser) rs73481453
NM_006231.3(POLE):c.720+16T>C rs200320553
NM_006231.3(POLE):c.721-9_721-8delGT rs752682384
NM_006231.3(POLE):c.775C>T (p.Arg259Cys) rs777638541
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.3(POLE):c.778C>T (p.Arg260Ter) rs747946229
NM_006231.3(POLE):c.796C>T (p.Arg266Ter) rs767666219
NM_006231.3(POLE):c.7C>G (p.Leu3Val) rs1018143132
NM_006231.3(POLE):c.802-1G>C rs1555229470
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.909+20G>A rs750593090
NM_006231.3(POLE):c.91G>T (p.Ala31Ser) rs34047482
NM_006231.3(POLE):c.940T>G (p.Ser314Ala) rs770403791
NM_006231.3(POLE):c.941C>G (p.Ser314Ter) rs869312803

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