ClinVar Miner

List of variants in gene POLE reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.3582+17A>G rs5744889 0.97472
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
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.6330+15G>A rs5745023 0.49667
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_006231.4(POLE):c.5707C>T (p.Leu1903=) rs5744990 0.15505
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
NM_006231.4(POLE):c.755C>T (p.Ala252Val) rs5744751 0.07688
NM_006231.4(POLE):c.2469-15G>A rs5744833 0.07057
NM_006231.4(POLE):c.4444+4T>A rs5744941 0.05640
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
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.2320-13A>G rs75329753 0.01853
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.91G>T (p.Ala31Ser) rs34047482 0.01320
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.6817A>T (p.Thr2273Ser) rs73481453 0.00444
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.846C>T (p.Pro282=) rs5744758 0.00291
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.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.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.1347G>A (p.Thr449=) rs142373951 0.00094
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.3747G>A (p.Val1249=) rs80290414 0.00080
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_006231.4(POLE):c.6714C>T (p.Cys2238=) rs200082120 0.00033
NM_006231.4(POLE):c.5496T>C (p.Leu1832=) rs147543146 0.00029
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.3378+10A>G rs193075152 0.00019
NM_006231.4(POLE):c.252C>T (p.Tyr84=) rs148838481 0.00015
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr) rs115193764 0.00015
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00014
NM_006231.4(POLE):c.6657+9T>C rs375333174 0.00014
NM_006231.4(POLE):c.2935C>T (p.Leu979=) rs56081968 0.00013
NM_006231.4(POLE):c.4370G>T (p.Gly1457Val) rs776534749 0.00012
NM_006231.4(POLE):c.3763T>C (p.Leu1255=) rs745838504 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.6050G>A (p.Arg2017His) rs144178150 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006231.4(POLE):c.556G>A (p.Ala186Thr) rs375213599 0.00010
NM_006231.4(POLE):c.1905C>T (p.Ile635=) rs145203544 0.00009
NM_006231.4(POLE):c.4047G>A (p.Ala1349=) rs201746181 0.00009
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006231.4(POLE):c.2172G>A (p.Ala724=) rs372240734 0.00007
NM_006231.4(POLE):c.3311C>T (p.Thr1104Met) rs531705054 0.00007
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.1794+5C>T rs200095915 0.00006
NM_006231.4(POLE):c.3459+8C>T rs375852759 0.00006
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser) rs749342382 0.00006
NM_006231.4(POLE):c.6810C>T (p.Leu2270=) rs757092767 0.00006
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys) rs116260568 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.1560A>G (p.Gln520=) rs201841065 0.00004
NM_006231.4(POLE):c.2178C>T (p.Tyr726=) rs915331738 0.00004
NM_006231.4(POLE):c.330+3G>A rs369152225 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.555C>T (p.Asp185=) rs763871536 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_006231.4(POLE):c.834G>A (p.Thr278=) rs758368160 0.00004
NM_006231.4(POLE):c.1596C>T (p.His532=) rs114978673 0.00003
NM_006231.4(POLE):c.4091G>A (p.Arg1364His) rs369171111 0.00003
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln) rs535074635 0.00003
NM_006231.4(POLE):c.4269C>T (p.Ile1423=) rs761413102 0.00003
NM_006231.4(POLE):c.5313G>A (p.Thr1771=) rs201803493 0.00003
NM_006231.4(POLE):c.5609G>A (p.Arg1870His) rs758619238 0.00003
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00002
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met) rs764457707 0.00002
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.2214G>C (p.Lys738Asn) rs749305408 0.00001
NM_006231.4(POLE):c.2361C>T (p.Asp787=) rs1060504070 0.00001
NM_006231.4(POLE):c.272G>A (p.Gly91Glu) rs376348304 0.00001
NM_006231.4(POLE):c.4018A>G (p.Ser1340Gly) rs1248556901 0.00001
NM_006231.4(POLE):c.4245C>T (p.Asn1415=) rs778896278 0.00001
NM_006231.4(POLE):c.4445-7T>C rs754001064 0.00001
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys) rs542430685 0.00001
NM_006231.4(POLE):c.4667G>A (p.Arg1556Gln) rs762965148 0.00001
NM_006231.4(POLE):c.5130C>T (p.Asp1710=) rs1340452589 0.00001
NM_006231.4(POLE):c.5274C>T (p.Phe1758=) rs921653059 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.5678+1G>A rs138748289 0.00001
NM_006231.4(POLE):c.5726G>A (p.Arg1909Gln) rs201455049 0.00001
NM_006231.4(POLE):c.6298C>G (p.Pro2100Ala) rs562071800 0.00001
NM_006231.4(POLE):c.84A>T (p.Ser28=) rs774280853 0.00001
NM_006231.4(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.4(POLE):c.1231G>C (p.Val411Leu) rs1057519945
NM_006231.4(POLE):c.1231G>T (p.Val411Leu) rs1057519945
NM_006231.4(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006231.4(POLE):c.1306C>T (p.Pro436Ser) rs1565973210
NM_006231.4(POLE):c.1354C>A (p.Pro452Thr) rs1555228573
NM_006231.4(POLE):c.1440T>C (p.Ala480=) rs1248513702
NM_006231.4(POLE):c.1858C>T (p.Pro620Ser) rs979085449
NM_006231.4(POLE):c.1920G>A (p.Leu640=)
NM_006231.4(POLE):c.1924-23_1927del rs1064795679
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2236A>G (p.Ile746Val) rs1480527153
NM_006231.4(POLE):c.2935C>A (p.Leu979Met)
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3990G>T (p.Pro1330=) rs777546371
NM_006231.4(POLE):c.4157G>A (p.Arg1386Gln) rs969355093
NM_006231.4(POLE):c.423+82A>G
NM_006231.4(POLE):c.4249G>C (p.Glu1417Gln) rs1593735965
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4529_4530inv (p.Ala1510Val)
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.5354C>T (p.Thr1785Ile) rs1269441689
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.5590A>T (p.Ile1864Phe) rs2042070838
NM_006231.4(POLE):c.5972C>G (p.Ser1991Cys) rs1593711899
NM_006231.4(POLE):c.6208A>G (p.Ile2070Val) rs763607284
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs) rs774417192
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.6843C>T (p.Asn2281=) rs1166482142

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