ClinVar Miner

List of variants in gene POLE reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.3582+17A>G rs5744889 0.97472
NM_006231.4(POLE):c.2319+272G>A rs4883576 0.68946
NM_006231.4(POLE):c.5553-43T>C rs5744970 0.68901
NM_006231.4(POLE):c.3796-58A>G rs4883613 0.68884
NM_006231.4(POLE):c.4150-90dup rs5744932 0.68733
NM_006231.4(POLE):c.3583-431G>A rs5744896 0.68717
NM_006231.4(POLE):c.4290+102A>T rs4883614 0.68711
NM_006231.4(POLE):c.4150-107C>T rs10870483 0.68561
NM_006231.4(POLE):c.5679-82A>G rs4883625 0.67737
NM_006231.4(POLE):c.6657+284A>G rs4883544 0.67310
NM_006231.4(POLE):c.5812-21G>A rs5745005 0.67309
NM_006231.4(POLE):c.5678+78C>G rs5744974 0.66505
NM_006231.4(POLE):c.6005-212A>G rs5745020 0.66049
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_006231.4(POLE):c.6005-272G>A rs5745019 0.66016
NM_006231.4(POLE):c.6005-279C>T rs5745018 0.66011
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_006231.4(POLE):c.1020+124A>G rs4883545 0.61341
NM_006231.4(POLE):c.5679-127G>A rs4883624 0.54922
NM_006231.4(POLE):c.3156G>A (p.Thr1052=) rs5744857 0.53577
NM_006231.4(POLE):c.4530A>G (p.Ala1510=) rs5744944 0.53564
NM_006231.4(POLE):c.2562-48T>C rs4883592 0.53563
NM_006231.4(POLE):c.2027-61T>C rs5744798 0.53282
NM_006231.4(POLE):c.1227-149T>C rs5744774 0.52922
NM_006231.4(POLE):c.3275+92T>C rs5744867 0.52689
NM_006231.4(POLE):c.5173+39G>A rs5744951 0.51836
NM_006231.4(POLE):c.4149+69C>A rs4883538 0.51835
NM_006231.4(POLE):c.3795+67C>T rs4883537 0.51547
NM_006231.4(POLE):c.5678+159G>A rs5744976 0.51335
NM_006231.4(POLE):c.1687-109C>T rs5744783 0.50961
NM_006231.4(POLE):c.1359+43G>A rs4883555 0.50908
NM_006231.4(POLE):c.2864+37A>G rs5744844 0.50901
NM_006231.4(POLE):c.802-71T>C rs5744757 0.50358
NM_006231.4(POLE):c.721-54A>G rs5744750 0.50355
NM_006231.4(POLE):c.6657+227G>A rs4883543 0.49829
NM_006231.4(POLE):c.2320-104T>C rs4883586 0.49766
NM_006231.4(POLE):c.1686+74A>T rs5744780 0.49688
NM_006231.4(POLE):c.6330+15G>A rs5745023 0.49667
NM_006231.4(POLE):c.6330+290T>C rs5745031 0.49644
NM_006231.4(POLE):c.6330+162T>C rs5745028 0.49208
NM_006231.4(POLE):c.2319+301A>T rs4883577 0.48877
NM_006231.4(POLE):c.578+291T>G rs5744745 0.46858
NM_006231.4(POLE):c.63-223G>A rs5744731 0.46656
NM_006231.4(POLE):c.63-139_63-135del rs5744732 0.46480
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_006231.4(POLE):c.6532-72C>T rs5745073 0.34303
NM_006231.4(POLE):c.286-96G>A rs5744738 0.31236
NM_006231.4(POLE):c.910-157A>G rs5744759 0.31066
NM_006231.4(POLE):c.5811+96C>T rs5744993 0.15962
NM_006231.4(POLE):c.5707C>T (p.Leu1903=) rs5744990 0.15505
NM_006231.4(POLE):c.5379-293T>C rs5744962 0.15188
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
NM_006231.4(POLE):c.6331-298_6331-297del rs5745064 0.11665
NM_006231.4(POLE):c.5811+313T>C rs5744995 0.07796
NM_006231.4(POLE):c.1227-257G>A rs5744773 0.07711
NM_006231.4(POLE):c.63-22G>A rs5744733 0.07688
NM_006231.4(POLE):c.755C>T (p.Ala252Val) rs5744751 0.07688
NM_006231.4(POLE):c.1227-278G>A rs5744771 0.07683
NM_006231.4(POLE):c.3583-164T>C rs5744898 0.07420
NM_006231.4(POLE):c.1226+45C>T rs5744761 0.07418
NM_006231.4(POLE):c.2469-15G>A rs5744833 0.07057
NM_006231.4(POLE):c.2469-227C>T rs5744831 0.07044
NM_006231.4(POLE):c.579-224G>C rs5744748 0.05644
NM_006231.4(POLE):c.4444+4T>A rs5744941 0.05640
NM_006231.4(POLE):c.4445-33C>T rs5744942 0.05559
NM_006231.4(POLE):c.4291-84A>C rs5744939 0.05181
NM_006231.4(POLE):c.5812-123G>A rs5745003 0.04699
NM_006231.4(POLE):c.63-255C>T rs5744730 0.03226
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_006231.4(POLE):c.2706+151dup rs5744836 0.02355
NM_006231.4(POLE):c.3582+263G>A rs11146996 0.02355
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_006231.4(POLE):c.2340G>A (p.Ser780=) rs5744822 0.02051
NM_006231.4(POLE):c.4149+152C>T rs5744905 0.01866
NM_006231.4(POLE):c.2320-13A>G rs75329753 0.01853
NM_006231.4(POLE):c.2707-252G>A rs5744843 0.01853
NM_006231.4(POLE):c.6658-200C>T rs116604262 0.01853
NM_006231.4(POLE):c.*90A>G rs79419148 0.01851
NM_006231.4(POLE):c.2320-281C>G rs114828204 0.01851
NM_006231.4(POLE):c.3060+189C>T rs5744848 0.01849
NM_006231.4(POLE):c.801+78A>G rs5744753 0.01848
NM_006231.4(POLE):c.6657+64C>T rs5745076 0.01527
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.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_006231.4(POLE):c.6330+19G>A rs5745025 0.01268
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_006231.4(POLE):c.2928C>T (p.Arg976=) rs5744845 0.00958
NM_006231.4(POLE):c.5583A>C (p.Ser1861=) rs5744972 0.00949
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_006231.4(POLE):c.1470C>T (p.Asp490=) rs5744777 0.00679
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.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_006231.4(POLE):c.5811+16T>C rs115381003 0.00423
NM_006231.4(POLE):c.6766G>A (p.Gly2256Arg) rs116323660 0.00402
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
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.123G>A (p.Thr41=) rs5744734 0.00320
NM_006231.4(POLE):c.779G>A (p.Arg260Gln) rs5744752 0.00312
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_006231.4(POLE):c.2106G>T (p.Gly702=) rs5744801 0.00198
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.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_006231.4(POLE):c.1360-6C>T rs139836643 0.00101
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00094
NM_006231.4(POLE):c.3747G>A (p.Val1249=) rs80290414 0.00080
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
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.2602C>T (p.Leu868=) rs115830215 0.00035
NM_006231.4(POLE):c.1359+19G>A rs375000942 0.00034
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_006231.4(POLE):c.6714C>T (p.Cys2238=) rs200082120 0.00033
NM_006231.4(POLE):c.6795C>T (p.Tyr2265=) rs142222159 0.00030
NM_006231.4(POLE):c.5496T>C (p.Leu1832=) rs147543146 0.00029
NM_006231.4(POLE):c.6831G>T (p.Leu2277=) rs145427269 0.00029
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_006231.4(POLE):c.4941C>T (p.Phe1647=) rs145639967 0.00027
NM_006231.4(POLE):c.546C>T (p.His182=) rs115257501 0.00026
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
NM_006231.4(POLE):c.519C>T (p.Ala173=) rs187690610 0.00021
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006231.4(POLE):c.2781C>T (p.Asn927=) rs775486303 0.00019
NM_006231.4(POLE):c.3378+10A>G rs193075152 0.00019
NM_006231.4(POLE):c.6597C>T (p.Ile2199=) rs147611144 0.00016
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr) rs115193764 0.00015
NM_006231.4(POLE):c.6576G>A (p.Ala2192=) rs368555884 0.00015
NM_006231.4(POLE):c.1188G>A (p.Glu396=) rs371717068 0.00014
NM_006231.4(POLE):c.1740C>T (p.His580=) rs114972594 0.00014
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006231.4(POLE):c.2935C>T (p.Leu979=) rs56081968 0.00013
NM_006231.4(POLE):c.285+13C>A rs76960367 0.00011
NM_006231.4(POLE):c.774C>G (p.Thr258=) rs149345392 0.00011
NM_006231.4(POLE):c.4047G>A (p.Ala1349=) rs201746181 0.00009
NM_006231.4(POLE):c.4719C>T (p.Leu1573=) rs115219846 0.00009
NM_006231.4(POLE):c.5769C>T (p.Gly1923=) rs375198950 0.00009
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.1687-16C>G rs530732187 0.00006
NM_006231.4(POLE):c.1794+5C>T rs200095915 0.00006
NM_006231.4(POLE):c.2262C>T (p.Tyr754=) rs145337550 0.00006
NM_006231.4(POLE):c.3615G>A (p.Pro1205=) rs560825851 0.00006
NM_006231.4(POLE):c.4494G>A (p.Ala1498=) rs777611171 0.00006
NM_006231.4(POLE):c.155G>A (p.Arg52Gln) rs372459649 0.00004
NM_006231.4(POLE):c.1560A>G (p.Gln520=) rs201841065 0.00004
NM_006231.4(POLE):c.1924-6T>C rs755311168 0.00004
NM_006231.4(POLE):c.3275+16A>G rs5744858 0.00004
NM_006231.4(POLE):c.555C>T (p.Asp185=) rs763871536 0.00004
NM_006231.4(POLE):c.6405C>T (p.Val2135=) rs139607077 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_006231.4(POLE):c.2271C>T (p.Thr757=) rs765532123 0.00003
NM_006231.4(POLE):c.2886C>T (p.Asp962=) rs757682919 0.00003
NM_006231.4(POLE):c.3090C>T (p.Phe1030=) rs766306895 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.864T>C (p.Ala288=) rs761167791 0.00002
NM_006231.4(POLE):c.2982C>T (p.Leu994=) rs771463033 0.00001
NM_006231.4(POLE):c.3378+15C>T rs574954983 0.00001
NM_006231.4(POLE):c.3933T>C (p.Pro1311=) rs533545710 0.00001
NM_006231.4(POLE):c.4236C>T (p.Asn1412=) rs377245595 0.00001
NM_006231.4(POLE):c.4245C>T (p.Asn1415=) rs778896278 0.00001
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys) rs542430685 0.00001
NM_006231.4(POLE):c.4744C>T (p.Pro1582Ser) rs556887600 0.00001
NM_006231.4(POLE):c.5174-17G>A rs201254290 0.00001
NM_006231.4(POLE):c.84A>T (p.Ser28=) rs774280853 0.00001
NM_006231.4(POLE):c.1106+7C>A rs369889926
NM_006231.4(POLE):c.1227-276A>C rs5744772
NM_006231.4(POLE):c.1359+144G>T rs5744776
NM_006231.4(POLE):c.1686+151del rs5744781
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile) rs574033788
NM_006231.4(POLE):c.2027-17del
NM_006231.4(POLE):c.207C>T (p.Thr69=) rs146986360
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.4(POLE):c.2173+273del rs33985588
NM_006231.4(POLE):c.2174-303G>A rs143795828
NM_006231.4(POLE):c.2469-96G>T rs5744832
NM_006231.4(POLE):c.2706+9dup rs1555226409
NM_006231.4(POLE):c.2865-17_2865-16dup rs369732588
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.2865-4dup rs369732588
NM_006231.4(POLE):c.2865-6_2865-4del rs369732588
NM_006231.4(POLE):c.3275+12_3275+37del rs1057517627
NM_006231.4(POLE):c.3275+15del
NM_006231.4(POLE):c.3275+15dup rs768202002
NM_006231.4(POLE):c.3276-186_3276-185insACAC rs10649524
NM_006231.4(POLE):c.331-19del
NM_006231.4(POLE):c.3378+63_3378+64del rs5744884
NM_006231.4(POLE):c.3583-356G>A rs5744897
NM_006231.4(POLE):c.4006-55G>A rs5744903
NM_006231.4(POLE):c.4150-12T>C rs551697046
NM_006231.4(POLE):c.4290+10del
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.4729-16dup rs1057517615
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006231.4(POLE):c.5379-241_5379-240insGGGTTGTGTTGA rs5744963
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.5678+83C>T rs5744975
NM_006231.4(POLE):c.5812-282del rs5745002
NM_006231.4(POLE):c.63-65del rs71453158
NM_006231.4(POLE):c.63-72dup rs71453158
NM_006231.4(POLE):c.63-82dup rs375211474
NM_006231.4(POLE):c.6658-19C>G rs5745081
NM_006231.4(POLE):c.6748-11T>A rs552311764
NM_006231.4(POLE):c.6777G>T (p.Arg2259=) rs540203276
NM_006231.4(POLE):c.718G>C (p.Val240Leu) rs371882716
NM_006231.4(POLE):c.720+10del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.