ClinVar Miner

List of variants in gene POLE reported as likely benign for attenuated familial adenomatous polyposis

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.6330+18C>T rs5745024 0.01405
NM_006231.4(POLE):c.3265_3275+15dup rs1555225627 0.00913
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_006231.4(POLE):c.5811+16T>C rs115381003 0.00423
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_006231.4(POLE):c.5811+13C>T rs150195182 0.00190
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_006231.4(POLE):c.63-14C>T rs373998767 0.00048
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
NM_006231.4(POLE):c.3379-12C>T rs187618435 0.00023
NM_006231.4(POLE):c.5379-19C>T rs376722984 0.00023
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006231.4(POLE):c.3378+10A>G rs193075152 0.00019
NM_006231.4(POLE):c.6006G>A (p.Ala2002=) rs146902214 0.00019
NM_006231.4(POLE):c.6532-19G>T rs201114228 0.00019
NM_006231.4(POLE):c.1226+13G>A rs577646338 0.00011
NM_006231.4(POLE):c.4291-11G>A rs369564167 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006231.4(POLE):c.2174-11G>A rs111570840 0.00009
NM_006231.4(POLE):c.4005+20G>A rs775205537 0.00009
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_006231.4(POLE):c.1687-16C>G rs530732187 0.00006
NM_006231.4(POLE):c.2468+12C>T rs776938447 0.00006
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=) rs201249963 0.00006
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val) rs190813054 0.00006
NM_006231.4(POLE):c.4011C>T (p.Ser1337=) rs756716850 0.00005
NM_006231.4(POLE):c.4952+11T>A rs779889181 0.00005
NM_006231.4(POLE):c.1924-6T>C rs755311168 0.00004
NM_006231.4(POLE):c.2174-15C>T rs750771177 0.00004
NM_006231.4(POLE):c.2468+19G>A rs768950827 0.00004
NM_006231.4(POLE):c.3379-18C>T rs1057517632 0.00004
NM_006231.4(POLE):c.3939G>A (p.Thr1313=) rs150282789 0.00004
NM_006231.4(POLE):c.4149+12C>G rs566422403 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.465G>A (p.Leu155=) rs1340414570 0.00004
NM_006231.4(POLE):c.4952+17C>T rs750268044 0.00004
NM_006231.4(POLE):c.5174-6G>C rs770466844 0.00004
NM_006231.4(POLE):c.555C>T (p.Asp185=) rs763871536 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_006231.4(POLE):c.1021-11C>T rs781431436 0.00003
NM_006231.4(POLE):c.1641C>A (p.Leu547=) rs267603387 0.00003
NM_006231.4(POLE):c.1795-14C>T rs369023182 0.00003
NM_006231.4(POLE):c.3090C>T (p.Phe1030=) rs766306895 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006231.4(POLE):c.424-10C>T rs748433747 0.00003
NM_006231.4(POLE):c.4269C>T (p.Ile1423=) rs761413102 0.00003
NM_006231.4(POLE):c.5173+10C>T rs371098994 0.00003
NM_006231.4(POLE):c.5313G>A (p.Thr1771=) rs201803493 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.6321C>T (p.Tyr2107=) rs201656807 0.00003
NM_006231.4(POLE):c.2343G>A (p.Ala781=) rs199751241 0.00002
NM_006231.4(POLE):c.318T>C (p.Ile106=) rs770759936 0.00002
NM_006231.4(POLE):c.3379-17G>A rs907214942 0.00002
NM_006231.4(POLE):c.5970C>T (p.Ala1990=) rs780933064 0.00002
NM_006231.4(POLE):c.6532-11G>C rs372829291 0.00002
NM_006231.4(POLE):c.909+20G>A rs750593090 0.00002
NM_006231.4(POLE):c.1227-4C>T rs1200122093 0.00001
NM_006231.4(POLE):c.1360-20C>G rs781212006 0.00001
NM_006231.4(POLE):c.1620C>T (p.Val540=) rs746282048 0.00001
NM_006231.4(POLE):c.2379C>T (p.Arg793=) rs200259552 0.00001
NM_006231.4(POLE):c.2707-9G>A rs1057521516 0.00001
NM_006231.4(POLE):c.2874G>T (p.Val958=) rs1232360648 0.00001
NM_006231.4(POLE):c.2961C>T (p.Ser987=) rs1593776050 0.00001
NM_006231.4(POLE):c.3061-12G>C rs779496994 0.00001
NM_006231.4(POLE):c.3276-30C>T rs773248517 0.00001
NM_006231.4(POLE):c.3375A>G (p.Arg1125=) rs1428808761 0.00001
NM_006231.4(POLE):c.3378+15C>T rs574954983 0.00001
NM_006231.4(POLE):c.3382C>T (p.Leu1128=) rs755839896 0.00001
NM_006231.4(POLE):c.3834G>A (p.Lys1278=) rs878854862 0.00001
NM_006231.4(POLE):c.4150-13G>A rs780409701 0.00001
NM_006231.4(POLE):c.415C>T (p.Leu139=) rs1302399839 0.00001
NM_006231.4(POLE):c.423+20T>C rs201628896 0.00001
NM_006231.4(POLE):c.4428C>T (p.Phe1476=) rs878854871 0.00001
NM_006231.4(POLE):c.4581C>T (p.Gly1527=) rs772646117 0.00001
NM_006231.4(POLE):c.4602C>T (p.His1534=) rs749126952 0.00001
NM_006231.4(POLE):c.4744C>T (p.Pro1582Ser) rs556887600 0.00001
NM_006231.4(POLE):c.4881T>C (p.His1627=) rs1060504049 0.00001
NM_006231.4(POLE):c.5046C>T (p.His1682=) rs769284070 0.00001
NM_006231.4(POLE):c.5174-17G>A rs201254290 0.00001
NM_006231.4(POLE):c.5304C>T (p.Asp1768=) rs747138372 0.00001
NM_006231.4(POLE):c.5379-5T>C rs761910924 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.5608C>T (p.Arg1870Cys) rs138231414 0.00001
NM_006231.4(POLE):c.5678+3G>A rs1060500826 0.00001
NM_006231.4(POLE):c.5880T>C (p.Asp1960=) rs1214579062 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.6093C>T (p.Ser2031=) rs934958443 0.00001
NM_006231.4(POLE):c.6540G>A (p.Ala2180=) rs746976542 0.00001
NM_006231.4(POLE):c.664C>T (p.Arg222Cys) rs767503360 0.00001
NM_006231.4(POLE):c.6664C>T (p.Leu2222=) rs1160915539 0.00001
NM_006231.4(POLE):c.706C>T (p.Leu236=) rs553397628 0.00001
NM_006231.4(POLE):c.717C>T (p.His239=) rs567612169 0.00001
NM_006231.4(POLE):c.747A>G (p.Arg249=) rs1002061657 0.00001
NM_006231.4(POLE):c.93A>C (p.Ala31=) rs746063190 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.4(POLE):c.1021-6G>A rs1344503517
NM_006231.4(POLE):c.1106+7C>A rs369889926
NM_006231.4(POLE):c.1119G>A (p.Glu373=) rs1555229135
NM_006231.4(POLE):c.1284C>T (p.Ala428=) rs1555228629
NM_006231.4(POLE):c.1383A>T (p.Ser461=) rs1565972617
NM_006231.4(POLE):c.1410C>T (p.Tyr470=) rs1593072345
NM_006231.4(POLE):c.1443G>A (p.Leu481=) rs1593072246
NM_006231.4(POLE):c.1446C>T (p.Cys482=) rs1593072230
NM_006231.4(POLE):c.1452T>C (p.Ile484=) rs1060504063
NM_006231.4(POLE):c.1473+19G>A rs1057517628
NM_006231.4(POLE):c.1474-13G>A rs1555228383
NM_006231.4(POLE):c.1545C>T (p.Ile515=) rs749768300
NM_006231.4(POLE):c.1557G>A (p.Lys519=) rs1593071098
NM_006231.4(POLE):c.1600C>T (p.Leu534=) rs1060504056
NM_006231.4(POLE):c.1687-13A>G rs527311638
NM_006231.4(POLE):c.1770G>A (p.Val590=) rs1060504050
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile) rs574033788
NM_006231.4(POLE):c.1795-4G>A rs1593793530
NM_006231.4(POLE):c.2026+14G>T rs751509566
NM_006231.4(POLE):c.2027-16A>G rs1057517614
NM_006231.4(POLE):c.205-9C>G rs1565981102
NM_006231.4(POLE):c.2055G>T (p.Arg685=) rs1593792040
NM_006231.4(POLE):c.2118C>T (p.Ala706=) rs1555227247
NM_006231.4(POLE):c.2133C>G (p.Ser711=) rs1368511972
NM_006231.4(POLE):c.2173+7G>A rs1300924389
NM_006231.4(POLE):c.2277T>A (p.Arg759=) rs1054141976
NM_006231.4(POLE):c.2301G>A (p.Glu767=) rs1593789862
NM_006231.4(POLE):c.2320-7T>C rs1593785806
NM_006231.4(POLE):c.2320-9G>T rs769834031
NM_006231.4(POLE):c.2340G>C (p.Ser780=) rs5744822
NM_006231.4(POLE):c.2373G>A (p.Val791=) rs910638587
NM_006231.4(POLE):c.2433C>T (p.Ile811=) rs1256279930
NM_006231.4(POLE):c.2484C>T (p.Ser828=) rs1060504053
NM_006231.4(POLE):c.2532C>A (p.Thr844=) rs1060504073
NM_006231.4(POLE):c.2562-7T>C rs2135957248
NM_006231.4(POLE):c.2562-9T>C rs757405283
NM_006231.4(POLE):c.2679A>C (p.Pro893=) rs1060504043
NM_006231.4(POLE):c.2703C>G (p.Val901=) rs1555226414
NM_006231.4(POLE):c.2706+11G>C rs1555226410
NM_006231.4(POLE):c.2811C>T (p.Tyr937=) rs1593777350
NM_006231.4(POLE):c.286-4del rs1555230256
NM_006231.4(POLE):c.2865-17_2865-14dup rs369732588
NM_006231.4(POLE):c.2865-3C>T rs1203095918
NM_006231.4(POLE):c.2865-3_2865del rs1593776411
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.2925C>T (p.Arg975=) rs1593776193
NM_006231.4(POLE):c.2949G>A (p.Lys983=) rs1213321495
NM_006231.4(POLE):c.3012C>T (p.Gly1004=) rs999632406
NM_006231.4(POLE):c.3061-6C>T rs896731025
NM_006231.4(POLE):c.3061-9T>C rs878854859
NM_006231.4(POLE):c.3129G>A (p.Leu1043=) rs1384907122
NM_006231.4(POLE):c.3201G>A (p.Gln1067=) rs1305473259
NM_006231.4(POLE):c.3252C>G (p.Pro1084=) rs556962209
NM_006231.4(POLE):c.3275+12_3275+37dup rs1057517627
NM_006231.4(POLE):c.3275+14C>G rs368185422
NM_006231.4(POLE):c.3275+38_3275+88del rs1565955594
NM_006231.4(POLE):c.3276-5C>T rs1293099867
NM_006231.4(POLE):c.3379-6A>G rs754281673
NM_006231.4(POLE):c.339G>A (p.Glu113=) rs1593086051
NM_006231.4(POLE):c.351A>C (p.Ser117=) rs199773841
NM_006231.4(POLE):c.3537G>A (p.Lys1179=) rs1593765883
NM_006231.4(POLE):c.3582+34G>A rs753702996
NM_006231.4(POLE):c.387A>G (p.Ala129=) rs1593085927
NM_006231.4(POLE):c.3904C>T (p.Leu1302Phe) rs1555223949
NM_006231.4(POLE):c.3999T>C (p.Ile1333=) rs929039052
NM_006231.4(POLE):c.4017C>T (p.Thr1339=) rs1276906694
NM_006231.4(POLE):c.4150-12T>C rs551697046
NM_006231.4(POLE):c.4158G>A (p.Arg1386=) rs1473134331
NM_006231.4(POLE):c.4209A>G (p.Pro1403=) rs768182675
NM_006231.4(POLE):c.4215C>T (p.Asp1405=) rs1593736196
NM_006231.4(POLE):c.4227A>G (p.Glu1409=) rs1593736110
NM_006231.4(POLE):c.424-7A>G rs1593085377
NM_006231.4(POLE):c.424-8C>T rs1593085383
NM_006231.4(POLE):c.4287T>C (p.Thr1429=) rs1060504044
NM_006231.4(POLE):c.4299A>G (p.Leu1433=) rs758173240
NM_006231.4(POLE):c.4419G>T (p.Leu1473=) rs1555222975
NM_006231.4(POLE):c.4476C>T (p.His1492=) rs5744943
NM_006231.4(POLE):c.4515C>A (p.Pro1505=) rs1593733664
NM_006231.4(POLE):c.4593A>T (p.Ser1531=) rs878854875
NM_006231.4(POLE):c.4611C>T (p.Leu1537=) rs1593732539
NM_006231.4(POLE):c.4629T>C (p.Pro1543=) rs1593732457
NM_006231.4(POLE):c.4635C>T (p.Leu1545=) rs199945393
NM_006231.4(POLE):c.4636C>T (p.Leu1546=) rs1593732411
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.4722C>T (p.Ala1574=) rs1593731949
NM_006231.4(POLE):c.4728+14_4728+21del rs1311664292
NM_006231.4(POLE):c.4729-16dup rs1057517615
NM_006231.4(POLE):c.4927C>T (p.Leu1643=) rs1418072475
NM_006231.4(POLE):c.4952+13C>T rs1057517612
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006231.4(POLE):c.4952+20_4952+22del rs752389775
NM_006231.4(POLE):c.4953-5T>C rs757060708
NM_006231.4(POLE):c.4956C>T (p.Tyr1652=) rs1468753963
NM_006231.4(POLE):c.4989C>T (p.Asp1663=) rs1593730013
NM_006231.4(POLE):c.5013C>T (p.Leu1671=) rs1260912213
NM_006231.4(POLE):c.507G>A (p.Glu169=) rs1555230086
NM_006231.4(POLE):c.5174-7T>C rs1593728393
NM_006231.4(POLE):c.5247G>A (p.Glu1749=) rs753472248
NM_006231.4(POLE):c.5337G>T (p.Pro1779=) rs749991080
NM_006231.4(POLE):c.5378+9C>G rs1177871620
NM_006231.4(POLE):c.5484A>T (p.Pro1828=) rs770297218
NM_006231.4(POLE):c.5514C>T (p.His1838=) rs936176137
NM_006231.4(POLE):c.5553-10T>C rs1593719981
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.558G>T (p.Ala186=) rs764758303
NM_006231.4(POLE):c.5598C>T (p.Ala1866=) rs1555221772
NM_006231.4(POLE):c.5619C>A (p.Leu1873=) rs1060504071
NM_006231.4(POLE):c.5679-14T>C rs1555221517
NM_006231.4(POLE):c.5679-3C>T rs1555221512
NM_006231.4(POLE):c.579-5C>T rs1417046088
NM_006231.4(POLE):c.5809C>T (p.Leu1937=) rs1555221482
NM_006231.4(POLE):c.5943C>T (p.Asn1981=) rs1593711979
NM_006231.4(POLE):c.6090C>T (p.Ala2030=) rs1593708887
NM_006231.4(POLE):c.6137-50C>T rs779908266
NM_006231.4(POLE):c.6137-9T>C rs1593708268
NM_006231.4(POLE):c.63-10T>C rs1593088397
NM_006231.4(POLE):c.6303C>A (p.Ala2101=) rs751217923
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6351C>T (p.Asn2117=) rs1555301264
NM_006231.4(POLE):c.6411G>A (p.Glu2137=) rs753344188
NM_006231.4(POLE):c.6435A>G (p.Arg2145=) rs1593697593
NM_006231.4(POLE):c.6492C>T (p.Cys2164=) rs1593697384
NM_006231.4(POLE):c.6532-10C>G rs774636433
NM_006231.4(POLE):c.6532-21_6532-20del rs1555301127
NM_006231.4(POLE):c.6532-6G>A rs1593696621
NM_006231.4(POLE):c.654T>A (p.Ile218=) rs1555229709
NM_006231.4(POLE):c.6658-12G>C rs1555300850
NM_006231.4(POLE):c.6658-19C>G rs5745081
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.6768A>C (p.Gly2256=) rs1593693557
NM_006231.4(POLE):c.6777G>C (p.Arg2259=) rs540203276
NM_006231.4(POLE):c.6786C>T (p.Ala2262=) rs1593693506
NM_006231.4(POLE):c.696C>T (p.Leu232=) rs1593081708
NM_006231.4(POLE):c.721-13GT[2] rs752682384
NM_006231.4(POLE):c.802-6C>T rs754779082
NM_006231.4(POLE):c.810G>A (p.Val270=) rs973650664
NM_006231.4(POLE):c.90G>T (p.Ser30=) rs369224511
NM_006231.4(POLE):c.910-8T>C rs1593078633
NM_006231.4(POLE):c.99G>A (p.Lys33=) rs1270401168

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