ClinVar Miner

List of variants in gene POLE reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 540
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.5379-27G>A rs5744965 0.01498
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
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.6658-38C>T rs144237037 0.00436
NM_006231.4(POLE):c.5811+16T>C rs115381003 0.00423
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.3459+22C>T rs5744887 0.00320
NM_006231.4(POLE):c.6658-25G>A rs5745080 0.00299
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_006231.4(POLE):c.2468+31T>C rs5744824 0.00268
NM_006231.4(POLE):c.3583-31T>C rs5744899 0.00250
NM_006231.4(POLE):c.4149+42C>T rs139763727 0.00245
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
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.6675C>T (p.Arg2225=) rs149973644 0.00125
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.5379-28C>T rs5744964 0.00093
NM_006231.4(POLE):c.1924-23A>G rs201098665 0.00091
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
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.6004+43C>T rs202115116 0.00057
NM_006231.4(POLE):c.2173+48C>A rs375204111 0.00055
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.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.3275+42A>G rs370319609 0.00038
NM_006231.4(POLE):c.*18G>T rs573406234 0.00034
NM_006231.4(POLE):c.1359+19G>A rs375000942 0.00034
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
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.2320-28A>C rs199693164 0.00028
NM_006231.4(POLE):c.1020+29C>T rs369332806 0.00027
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
NM_006231.4(POLE):c.2865-39C>A rs376216671 0.00025
NM_006231.4(POLE):c.5379-19C>T rs376722984 0.00023
NM_006231.4(POLE):c.672C>T (p.Tyr224=) rs376923206 0.00022
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.5811+26G>A rs202120601 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.4952+10G>A rs376828693 0.00018
NM_006231.4(POLE):c.5173+18C>T rs201587262 0.00017
NM_006231.4(POLE):c.6747+39C>T rs200926632 0.00017
NM_006231.4(POLE):c.609T>C (p.Asp203=) rs1057522410 0.00016
NM_006231.4(POLE):c.6331-24C>T rs201573387 0.00016
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.3460-34G>A rs183039142 0.00015
NM_006231.4(POLE):c.6576G>A (p.Ala2192=) rs368555884 0.00015
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.6657+9T>C rs375333174 0.00014
NM_006231.4(POLE):c.2935C>T (p.Leu979=) rs56081968 0.00013
NM_006231.4(POLE):c.1227-49G>A rs373243003 0.00012
NM_006231.4(POLE):c.4370G>T (p.Gly1457Val) rs776534749 0.00012
NM_006231.4(POLE):c.5812-11_5812-10del rs745976640 0.00012
NM_006231.4(POLE):c.1226+13G>A rs577646338 0.00011
NM_006231.4(POLE):c.1590C>T (p.Asp530=) rs1040269464 0.00011
NM_006231.4(POLE):c.285+13C>A rs76960367 0.00011
NM_006231.4(POLE):c.3763T>C (p.Leu1255=) rs745838504 0.00011
NM_006231.4(POLE):c.3795+15T>G rs375745403 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.5898G>A (p.Glu1966=) rs372044043 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006231.4(POLE):c.4150-17C>T rs758539843 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_006231.4(POLE):c.6532-20C>T rs367726448 0.00010
NM_006231.4(POLE):c.1905C>T (p.Ile635=) rs145203544 0.00009
NM_006231.4(POLE):c.3049C>T (p.Leu1017=) rs371831931 0.00009
NM_006231.4(POLE):c.4005+20G>A rs775205537 0.00009
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.2481C>T (p.Tyr827=) rs149513974 0.00008
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_006231.4(POLE):c.4101C>T (p.Tyr1367=) rs780694561 0.00008
NM_006231.4(POLE):c.5220C>T (p.Leu1740=) rs746085748 0.00008
NM_006231.4(POLE):c.2172G>A (p.Ala724=) rs372240734 0.00007
NM_006231.4(POLE):c.2346C>T (p.Ala782=) rs114642756 0.00007
NM_006231.4(POLE):c.4206G>A (p.Val1402=) rs773786700 0.00007
NM_006231.4(POLE):c.6111C>T (p.Ala2037=) rs541439106 0.00007
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.1707C>T (p.Phe569=) rs147438050 0.00006
NM_006231.4(POLE):c.1795-48G>A rs202069042 0.00006
NM_006231.4(POLE):c.2026+50G>A rs374062368 0.00006
NM_006231.4(POLE):c.2262C>T (p.Tyr754=) rs145337550 0.00006
NM_006231.4(POLE):c.2468+12C>T rs776938447 0.00006
NM_006231.4(POLE):c.3061-15A>G rs754528052 0.00006
NM_006231.4(POLE):c.4444+18C>T rs780605858 0.00006
NM_006231.4(POLE):c.4444+19G>A rs368659272 0.00006
NM_006231.4(POLE):c.6039C>T (p.Asp2013=) rs371563366 0.00006
NM_006231.4(POLE):c.6810C>T (p.Leu2270=) rs757092767 0.00006
NM_006231.4(POLE):c.3801A>G (p.Glu1267=) rs369436095 0.00005
NM_006231.4(POLE):c.4952+11T>A rs779889181 0.00005
NM_006231.4(POLE):c.5085T>C (p.Gly1695=) rs755191548 0.00005
NM_006231.4(POLE):c.5253C>T (p.Ala1751=) rs765888059 0.00005
NM_006231.4(POLE):c.5742T>C (p.Leu1914=) rs541999794 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.2174-15C>T rs750771177 0.00004
NM_006231.4(POLE):c.2178C>T (p.Tyr726=) rs915331738 0.00004
NM_006231.4(POLE):c.2468+19G>A rs768950827 0.00004
NM_006231.4(POLE):c.2763C>T (p.Tyr921=) rs767254003 0.00004
NM_006231.4(POLE):c.3275+16A>G rs5744858 0.00004
NM_006231.4(POLE):c.330+3G>A rs369152225 0.00004
NM_006231.4(POLE):c.3459+13T>G rs372587100 0.00004
NM_006231.4(POLE):c.3534C>T (p.Tyr1178=) rs370133842 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.4551+11G>A rs769356284 0.00004
NM_006231.4(POLE):c.4552-11C>T rs202176361 0.00004
NM_006231.4(POLE):c.4952+17C>T rs750268044 0.00004
NM_006231.4(POLE):c.5007C>T (p.Ser1669=) rs146761597 0.00004
NM_006231.4(POLE):c.5106C>T (p.Asn1702=) rs116001373 0.00004
NM_006231.4(POLE):c.5174-6G>C rs770466844 0.00004
NM_006231.4(POLE):c.5811+12G>A rs765804223 0.00004
NM_006231.4(POLE):c.6012C>T (p.Ile2004=) rs147806951 0.00004
NM_006231.4(POLE):c.6018C>T (p.Ala2006=) rs111709550 0.00004
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_006231.4(POLE):c.828T>C (p.Ile276=) rs878854897 0.00004
NM_006231.4(POLE):c.834G>A (p.Thr278=) rs758368160 0.00004
NM_006231.4(POLE):c.1371G>A (p.Thr457=) rs753216372 0.00003
NM_006231.4(POLE):c.1389T>C (p.Ala463=) rs1014643567 0.00003
NM_006231.4(POLE):c.1473+42C>T rs145932396 0.00003
NM_006231.4(POLE):c.1473+43C>T rs144166399 0.00003
NM_006231.4(POLE):c.1596C>T (p.His532=) rs114978673 0.00003
NM_006231.4(POLE):c.1795-14C>T rs369023182 0.00003
NM_006231.4(POLE):c.2271C>T (p.Thr757=) rs765532123 0.00003
NM_006231.4(POLE):c.3417C>T (p.Ser1139=) rs762838377 0.00003
NM_006231.4(POLE):c.4125G>A (p.Ala1375=) rs374210113 0.00003
NM_006231.4(POLE):c.424-10C>T rs748433747 0.00003
NM_006231.4(POLE):c.424-20G>A rs781020097 0.00003
NM_006231.4(POLE):c.4269C>T (p.Ile1423=) rs761413102 0.00003
NM_006231.4(POLE):c.4290+20C>T rs768700204 0.00003
NM_006231.4(POLE):c.4380A>G (p.Ala1460=) rs758830037 0.00003
NM_006231.4(POLE):c.4551+18C>T rs747006780 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.579-18T>C rs1056677187 0.00003
NM_006231.4(POLE):c.5988C>T (p.Phe1996=) rs756828876 0.00003
NM_006231.4(POLE):c.6321C>T (p.Tyr2107=) rs201656807 0.00003
NM_006231.4(POLE):c.6804G>A (p.Ser2268=) rs544223319 0.00003
NM_006231.4(POLE):c.1089C>T (p.Asn363=) rs146639652 0.00002
NM_006231.4(POLE):c.1227-8C>T rs537816213 0.00002
NM_006231.4(POLE):c.1360-14C>T rs757413516 0.00002
NM_006231.4(POLE):c.1474-14G>T rs756438835 0.00002
NM_006231.4(POLE):c.1533C>T (p.His511=) rs545378475 0.00002
NM_006231.4(POLE):c.1836C>T (p.Asp612=) rs116456858 0.00002
NM_006231.4(POLE):c.1923+15C>A rs763092591 0.00002
NM_006231.4(POLE):c.2027-11C>T rs1555227287 0.00002
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.3270G>A (p.Thr1090=) rs758258927 0.00002
NM_006231.4(POLE):c.3379-17G>A rs907214942 0.00002
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00002
NM_006231.4(POLE):c.3738G>A (p.Thr1246=) rs545161424 0.00002
NM_006231.4(POLE):c.3777C>T (p.Pro1259=) rs770904877 0.00002
NM_006231.4(POLE):c.4006-15C>T rs751257970 0.00002
NM_006231.4(POLE):c.4026C>T (p.Ala1342=) rs764030317 0.00002
NM_006231.4(POLE):c.552C>T (p.Ser184=) rs878854884 0.00002
NM_006231.4(POLE):c.5658C>T (p.Tyr1886=) rs369346799 0.00002
NM_006231.4(POLE):c.579-15C>G rs368482979 0.00002
NM_006231.4(POLE):c.6137-7C>T rs1057523210 0.00002
NM_006231.4(POLE):c.6417C>T (p.Ser2139=) rs766935890 0.00002
NM_006231.4(POLE):c.6432C>T (p.Phe2144=) rs775605353 0.00002
NM_006231.4(POLE):c.6531+46C>T rs1330290276 0.00002
NM_006231.4(POLE):c.6658-18G>A rs575414442 0.00002
NM_006231.4(POLE):c.909+20G>A rs750593090 0.00002
NM_006231.4(POLE):c.910-5G>A rs750101293 0.00002
NM_006231.4(POLE):c.1050C>T (p.His350=) rs752171701 0.00001
NM_006231.4(POLE):c.1197G>A (p.Ala399=) rs1000162996 0.00001
NM_006231.4(POLE):c.1226+40G>A rs370594302 0.00001
NM_006231.4(POLE):c.1227-29C>T rs762128600 0.00001
NM_006231.4(POLE):c.1260C>T (p.Gly420=) rs1057523868 0.00001
NM_006231.4(POLE):c.1326G>A (p.Glu442=) rs745411507 0.00001
NM_006231.4(POLE):c.1360-20C>G rs781212006 0.00001
NM_006231.4(POLE):c.1392C>T (p.Val464=) rs772578799 0.00001
NM_006231.4(POLE):c.1419C>T (p.Tyr473=) rs369961557 0.00001
NM_006231.4(POLE):c.1474-7C>T rs1172867643 0.00001
NM_006231.4(POLE):c.1617C>T (p.Tyr539=) rs775930793 0.00001
NM_006231.4(POLE):c.1687-17T>C rs1026163395 0.00001
NM_006231.4(POLE):c.1687-39T>G rs376101669 0.00001
NM_006231.4(POLE):c.1687-4C>G rs375705244 0.00001
NM_006231.4(POLE):c.1737C>T (p.Arg579=) rs1057523317 0.00001
NM_006231.4(POLE):c.1794+16G>A rs770818395 0.00001
NM_006231.4(POLE):c.1851C>T (p.Ile617=) rs1338582924 0.00001
NM_006231.4(POLE):c.1872C>T (p.His624=) rs368789955 0.00001
NM_006231.4(POLE):c.1923+18G>A rs1387507213 0.00001
NM_006231.4(POLE):c.1924-5C>T rs878854846 0.00001
NM_006231.4(POLE):c.1924-8C>T rs530352468 0.00001
NM_006231.4(POLE):c.1926C>T (p.Pro642=) rs779747873 0.00001
NM_006231.4(POLE):c.2026+10G>A rs1282226694 0.00001
NM_006231.4(POLE):c.2061G>A (p.Gln687=) rs1400021883 0.00001
NM_006231.4(POLE):c.2173+9C>T rs1056554121 0.00001
NM_006231.4(POLE):c.2193C>T (p.Tyr731=) rs769596366 0.00001
NM_006231.4(POLE):c.2217G>A (p.Val739=) rs374750963 0.00001
NM_006231.4(POLE):c.2244G>A (p.Gln748=) rs1057522980 0.00001
NM_006231.4(POLE):c.2319+19C>T rs370320759 0.00001
NM_006231.4(POLE):c.2320-33C>G rs764670001 0.00001
NM_006231.4(POLE):c.2320-41G>A rs550421855 0.00001
NM_006231.4(POLE):c.2320-8C>T rs745933620 0.00001
NM_006231.4(POLE):c.2322G>A (p.Val774=) rs1057524564 0.00001
NM_006231.4(POLE):c.2358C>T (p.Gly786=) rs1278181584 0.00001
NM_006231.4(POLE):c.2361C>T (p.Asp787=) rs1060504070 0.00001
NM_006231.4(POLE):c.2398C>T (p.Leu800=) rs1333910199 0.00001
NM_006231.4(POLE):c.2463C>T (p.Arg821=) rs751392565 0.00001
NM_006231.4(POLE):c.2468+18C>T rs748559369 0.00001
NM_006231.4(POLE):c.2561+14G>A rs912028278 0.00001
NM_006231.4(POLE):c.2562-20G>C rs557791800 0.00001
NM_006231.4(POLE):c.2640G>A (p.Thr880=) rs1057521163 0.00001
NM_006231.4(POLE):c.2682C>T (p.Gly894=) rs757453683 0.00001
NM_006231.4(POLE):c.2706+19G>A rs777067793 0.00001
NM_006231.4(POLE):c.2707-9G>A rs1057521516 0.00001
NM_006231.4(POLE):c.285+17G>A rs5744736 0.00001
NM_006231.4(POLE):c.285+30C>T rs184271897 0.00001
NM_006231.4(POLE):c.286-14G>C rs373822280 0.00001
NM_006231.4(POLE):c.2864+3G>A rs1060500856 0.00001
NM_006231.4(POLE):c.2864+8T>C rs878854856 0.00001
NM_006231.4(POLE):c.2864+9C>T rs780578558 0.00001
NM_006231.4(POLE):c.2982C>T (p.Leu994=) rs771463033 0.00001
NM_006231.4(POLE):c.3060+16C>T rs1428999721 0.00001
NM_006231.4(POLE):c.3061-10C>G rs750269574 0.00001
NM_006231.4(POLE):c.3108C>T (p.Asn1036=) rs772522635 0.00001
NM_006231.4(POLE):c.3138C>T (p.Tyr1046=) rs779628723 0.00001
NM_006231.4(POLE):c.3195A>G (p.Gly1065=) rs1454076563 0.00001
NM_006231.4(POLE):c.3219G>T (p.Gly1073=) rs760636704 0.00001
NM_006231.4(POLE):c.3275+38T>C rs5744859 0.00001
NM_006231.4(POLE):c.331-27A>C rs1365832415 0.00001
NM_006231.4(POLE):c.3333G>A (p.Arg1111=) rs200319525 0.00001
NM_006231.4(POLE):c.3378+11G>C rs1281293430 0.00001
NM_006231.4(POLE):c.3378+15C>T rs574954983 0.00001
NM_006231.4(POLE):c.3447G>A (p.Ala1149=) rs758702382 0.00001
NM_006231.4(POLE):c.3492C>T (p.Pro1164=) rs754348616 0.00001
NM_006231.4(POLE):c.3582+12G>A rs1252638342 0.00001
NM_006231.4(POLE):c.3582+16C>T rs374051195 0.00001
NM_006231.4(POLE):c.3588G>A (p.Thr1196=) rs771747587 0.00001
NM_006231.4(POLE):c.3645C>T (p.Phe1215=) rs758716323 0.00001
NM_006231.4(POLE):c.3861C>T (p.Leu1287=) rs761684406 0.00001
NM_006231.4(POLE):c.399T>C (p.Thr133=) rs202102690 0.00001
NM_006231.4(POLE):c.4005+7A>G rs372329585 0.00001
NM_006231.4(POLE):c.4005+8C>A rs762723589 0.00001
NM_006231.4(POLE):c.4006-20A>G rs1057523958 0.00001
NM_006231.4(POLE):c.4150-13G>A rs780409701 0.00001
NM_006231.4(POLE):c.423+20T>C rs201628896 0.00001
NM_006231.4(POLE):c.4236C>T (p.Asn1412=) rs377245595 0.00001
NM_006231.4(POLE):c.424-50T>C rs1205301176 0.00001
NM_006231.4(POLE):c.4245C>T (p.Asn1415=) rs778896278 0.00001
NM_006231.4(POLE):c.4290+21G>A rs544899153 0.00001
NM_006231.4(POLE):c.4371C>T (p.Gly1457=) rs771489059 0.00001
NM_006231.4(POLE):c.4445-19G>A rs1396516668 0.00001
NM_006231.4(POLE):c.4445-7T>C rs754001064 0.00001
NM_006231.4(POLE):c.4551+15C>T rs770422878 0.00001
NM_006231.4(POLE):c.4551+20T>C rs377147295 0.00001
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys) rs542430685 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.4659C>T (p.Phe1553=) rs767021717 0.00001
NM_006231.4(POLE):c.4667G>A (p.Arg1556Gln) rs762965148 0.00001
NM_006231.4(POLE):c.4716G>A (p.Leu1572=) rs138782478 0.00001
NM_006231.4(POLE):c.4729-12G>A rs765204902 0.00001
NM_006231.4(POLE):c.4827G>A (p.Val1609=) rs770382974 0.00001
NM_006231.4(POLE):c.4863C>G (p.Val1621=) rs1057522227 0.00001
NM_006231.4(POLE):c.4932G>A (p.Ser1644=) rs1057522607 0.00001
NM_006231.4(POLE):c.4952+16T>C rs755998543 0.00001
NM_006231.4(POLE):c.5130C>T (p.Asp1710=) rs1340452589 0.00001
NM_006231.4(POLE):c.5173+11G>A rs201001062 0.00001
NM_006231.4(POLE):c.5174-17G>A rs201254290 0.00001
NM_006231.4(POLE):c.5181G>A (p.Val1727=) rs1057523212 0.00001
NM_006231.4(POLE):c.5205C>T (p.Ala1735=) rs778829972 0.00001
NM_006231.4(POLE):c.5274C>T (p.Phe1758=) rs921653059 0.00001
NM_006231.4(POLE):c.5304C>T (p.Asp1768=) rs747138372 0.00001
NM_006231.4(POLE):c.5346C>T (p.Tyr1782=) rs761902063 0.00001
NM_006231.4(POLE):c.5379-14A>C rs1210105737 0.00001
NM_006231.4(POLE):c.5397C>T (p.Val1799=) rs770069897 0.00001
NM_006231.4(POLE):c.5520A>G (p.Thr1840=) rs778744958 0.00001
NM_006231.4(POLE):c.5552+14C>T rs1367903300 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.578+47A>G rs1389319633 0.00001
NM_006231.4(POLE):c.579-16T>C rs869312621 0.00001
NM_006231.4(POLE):c.5812-19G>A rs1057524156 0.00001
NM_006231.4(POLE):c.5901G>A (p.Ala1967=) rs200474862 0.00001
NM_006231.4(POLE):c.6004+10G>A rs935178604 0.00001
NM_006231.4(POLE):c.6093C>T (p.Ser2031=) rs934958443 0.00001
NM_006231.4(POLE):c.6136+20T>A rs932585832 0.00001
NM_006231.4(POLE):c.6156G>A (p.Gln2052=) rs149841283 0.00001
NM_006231.4(POLE):c.6201T>C (p.Thr2067=) rs983980599 0.00001
NM_006231.4(POLE):c.6273C>T (p.Pro2091=) rs767769851 0.00001
NM_006231.4(POLE):c.6339C>T (p.Ser2113=) rs781680187 0.00001
NM_006231.4(POLE):c.6531+12C>T rs1041511996 0.00001
NM_006231.4(POLE):c.6532-14C>T rs1483343976 0.00001
NM_006231.4(POLE):c.6657+8G>A rs777791883 0.00001
NM_006231.4(POLE):c.6693C>T (p.Ser2231=) rs1483311551 0.00001
NM_006231.4(POLE):c.6726C>T (p.Phe2242=) rs771312122 0.00001
NM_006231.4(POLE):c.6748-20G>C rs139246810 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.765A>G (p.Val255=) rs898919469 0.00001
NM_006231.4(POLE):c.841C>T (p.Leu281=) rs765827736 0.00001
NM_006231.4(POLE):c.84A>T (p.Ser28=) rs774280853 0.00001
NM_006231.4(POLE):c.90G>A (p.Ser30=) rs369224511 0.00001
NM_006231.4(POLE):c.942A>C (p.Ser314=) rs548933169 0.00001
NM_006231.4(POLE):c.996T>C (p.Phe332=) rs779159186 0.00001
NM_006231.4(POLE):c.*23T>G rs2138421481
NM_006231.4(POLE):c.*27C>T
NM_006231.4(POLE):c.1002C>T (p.Val334=) rs1555229284
NM_006231.4(POLE):c.1020+50C>T
NM_006231.4(POLE):c.1020+5_1020+6delinsAA rs1064795707
NM_006231.4(POLE):c.1021-24C>T
NM_006231.4(POLE):c.1021-49C>G
NM_006231.4(POLE):c.1086C>T (p.Tyr362=) rs1555229206
NM_006231.4(POLE):c.1106+12T>C rs781673811
NM_006231.4(POLE):c.1106+7C>A rs369889926
NM_006231.4(POLE):c.1226+44G>A
NM_006231.4(POLE):c.1226+50T>C
NM_006231.4(POLE):c.1272C>G (p.Leu424=) rs1555228638
NM_006231.4(POLE):c.1347G>C (p.Thr449=) rs142373951
NM_006231.4(POLE):c.1359+22T>C
NM_006231.4(POLE):c.1359+35G>A
NM_006231.4(POLE):c.1359+47_1359+117del rs1565972903
NM_006231.4(POLE):c.1359+50G>C
NM_006231.4(POLE):c.1360-5C>T rs1555228512
NM_006231.4(POLE):c.1440T>C (p.Ala480=) rs1248513702
NM_006231.4(POLE):c.1464G>A (p.Glu488=) rs1012445618
NM_006231.4(POLE):c.1473+7A>G rs1555228439
NM_006231.4(POLE):c.1686+38T>G
NM_006231.4(POLE):c.1687-10G>A rs1593069617
NM_006231.4(POLE):c.1687-22C>T rs200687411
NM_006231.4(POLE):c.1687-4C>T rs375705244
NM_006231.4(POLE):c.1695C>A (p.Ala565=) rs139748472
NM_006231.4(POLE):c.1695C>T (p.Ala565=) rs139748472
NM_006231.4(POLE):c.1773G>A (p.Glu591=) rs767933490
NM_006231.4(POLE):c.1794+11_1794+12insA rs1555228106
NM_006231.4(POLE):c.1795-29G>T
NM_006231.4(POLE):c.1806G>A (p.Glu602=) rs1057521932
NM_006231.4(POLE):c.180A>G (p.Thr60=) rs1555230398
NM_006231.4(POLE):c.1920G>A (p.Leu640=)
NM_006231.4(POLE):c.1923+12C>G rs764448704
NM_006231.4(POLE):c.1924-23_1927del rs1064795679
NM_006231.4(POLE):c.201T>C (p.His67=) rs1555230391
NM_006231.4(POLE):c.2026+14G>T rs751509566
NM_006231.4(POLE):c.2026+18_2026+62del rs1064795073
NM_006231.4(POLE):c.2026+39C>T
NM_006231.4(POLE):c.2026+42dup
NM_006231.4(POLE):c.2027-12C>T rs767811987
NM_006231.4(POLE):c.2027-16A>G rs1057517614
NM_006231.4(POLE):c.2027-40G>A
NM_006231.4(POLE):c.204+8C>G rs749595462
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2091C>A (p.Pro697=) rs1060504055
NM_006231.4(POLE):c.2091C>T (p.Pro697=) rs1060504055
NM_006231.4(POLE):c.2133C>G (p.Ser711=) rs1368511972
NM_006231.4(POLE):c.2173+11G>A rs1057522621
NM_006231.4(POLE):c.2173+23G>T rs141477185
NM_006231.4(POLE):c.2205C>T (p.His735=) rs1057523974
NM_006231.4(POLE):c.2289C>T (p.Asp763=) rs1057521109
NM_006231.4(POLE):c.2334G>A (p.Lys778=) rs929596537
NM_006231.4(POLE):c.2382C>T (p.Cys794=) rs767271169
NM_006231.4(POLE):c.2469-40C>G
NM_006231.4(POLE):c.2561+16G>A rs1057523560
NM_006231.4(POLE):c.2561+23G>A
NM_006231.4(POLE):c.2561+42G>T
NM_006231.4(POLE):c.2561+97_2562-48del
NM_006231.4(POLE):c.2569T>C (p.Leu857=) rs763456552
NM_006231.4(POLE):c.2604G>A (p.Leu868=) rs760386245
NM_006231.4(POLE):c.2610C>T (p.Asn870=) rs1057524008
NM_006231.4(POLE):c.2652G>A (p.Lys884=)
NM_006231.4(POLE):c.2676C>T (p.Tyr892=) rs878854853
NM_006231.4(POLE):c.2697C>T (p.Ile899=) rs1555226416
NM_006231.4(POLE):c.2706+11G>C rs1555226410
NM_006231.4(POLE):c.2706+44G>A
NM_006231.4(POLE):c.2706+9dup rs1555226409
NM_006231.4(POLE):c.2707-23C>T
NM_006231.4(POLE):c.285+17G>T rs5744736
NM_006231.4(POLE):c.286-25del
NM_006231.4(POLE):c.286-48G>A
NM_006231.4(POLE):c.2865-17_2865-16dup rs369732588
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.3027G>T (p.Val1009=) rs1057521358
NM_006231.4(POLE):c.3060+20C>G rs1555225929
NM_006231.4(POLE):c.3084G>A (p.Glu1028=) rs1057521764
NM_006231.4(POLE):c.3159C>T (p.Ser1053=) rs1057524186
NM_006231.4(POLE):c.3210G>A (p.Lys1070=)
NM_006231.4(POLE):c.3252C>T (p.Pro1084=) rs556962209
NM_006231.4(POLE):c.3264_3275+13dup rs761516512
NM_006231.4(POLE):c.3275+12_3275+37del rs1057517627
NM_006231.4(POLE):c.3275+12_3275+37dup rs1057517627
NM_006231.4(POLE):c.3275+14_3275+21delinsTCATCACT rs1064795121
NM_006231.4(POLE):c.3275+38_3275+88del rs1565955594
NM_006231.4(POLE):c.3276-4C>T rs1555225328
NM_006231.4(POLE):c.3279C>T (p.Ala1093=) rs1057521217
NM_006231.4(POLE):c.330+13C>G rs2043137488
NM_006231.4(POLE):c.330+46C>G
NM_006231.4(POLE):c.333T>C (p.Gly111=) rs933506354
NM_006231.4(POLE):c.3363C>T (p.Asp1121=) rs1057522030
NM_006231.4(POLE):c.3379-40del
NM_006231.4(POLE):c.3379-45C>T
NM_006231.4(POLE):c.3459+42T>C
NM_006231.4(POLE):c.3459+44_3459+45del rs758788717
NM_006231.4(POLE):c.3460-43G>C
NM_006231.4(POLE):c.3582+16_3582+17inv
NM_006231.4(POLE):c.3582+20G>T rs746745345
NM_006231.4(POLE):c.3582+32G>A
NM_006231.4(POLE):c.3582+34G>A rs753702996
NM_006231.4(POLE):c.3582+9G>A rs1057524057
NM_006231.4(POLE):c.3583-45G>A
NM_006231.4(POLE):c.363C>T (p.Ser121=) rs1555230177
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3777C>A (p.Pro1259=) rs770904877
NM_006231.4(POLE):c.3795+26_3795+27del
NM_006231.4(POLE):c.3795+31T>C
NM_006231.4(POLE):c.3796-11A>G rs1555223983
NM_006231.4(POLE):c.3796-20G>A rs1057522550
NM_006231.4(POLE):c.3796-34C>T
NM_006231.4(POLE):c.3796-3del rs2138610551
NM_006231.4(POLE):c.3921C>A (p.Ile1307=) rs1555223944
NM_006231.4(POLE):c.3990G>T (p.Pro1330=) rs777546371
NM_006231.4(POLE):c.3999T>C (p.Ile1333=) rs929039052
NM_006231.4(POLE):c.405C>T (p.Pro135=) rs1057521357
NM_006231.4(POLE):c.4080G>C (p.Leu1360=) rs1555223858
NM_006231.4(POLE):c.4150-16G>T rs375774291
NM_006231.4(POLE):c.4150-36C>G rs755471365
NM_006231.4(POLE):c.4150-37dup
NM_006231.4(POLE):c.423+42G>A
NM_006231.4(POLE):c.424-21C>T
NM_006231.4(POLE):c.424-44C>T
NM_006231.4(POLE):c.4263A>G (p.Pro1421=)
NM_006231.4(POLE):c.4290+40C>T
NM_006231.4(POLE):c.4291-22C>T rs759282531
NM_006231.4(POLE):c.4291-24G>A
NM_006231.4(POLE):c.4341C>T (p.Val1447=) rs878854870
NM_006231.4(POLE):c.4353G>C (p.Leu1451=) rs769149466
NM_006231.4(POLE):c.4444+10G>T rs761312129
NM_006231.4(POLE):c.4444+9T>C rs1060504072
NM_006231.4(POLE):c.4445-35C>T
NM_006231.4(POLE):c.4445-36A>G
NM_006231.4(POLE):c.4552-11C>G rs202176361
NM_006231.4(POLE):c.4552-9T>C rs1432965677
NM_006231.4(POLE):c.4644C>T (p.Pro1548=) rs1555222721
NM_006231.4(POLE):c.4689C>T (p.Thr1563=) rs1057522743
NM_006231.4(POLE):c.4708C>A (p.Arg1570=) rs1037592848
NM_006231.4(POLE):c.4729-11C>T rs1555222633
NM_006231.4(POLE):c.4752C>T (p.Leu1584=) rs1057524354
NM_006231.4(POLE):c.4794T>C (p.Ser1598=) rs1555222600
NM_006231.4(POLE):c.4821A>C (p.Pro1607=)
NM_006231.4(POLE):c.4863C>T (p.Val1621=) rs1057522227
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.4952+34C>T
NM_006231.4(POLE):c.4952+48G>A
NM_006231.4(POLE):c.4953-38G>A
NM_006231.4(POLE):c.5037C>A (p.Arg1679=) rs1057523897
NM_006231.4(POLE):c.510C>T (p.Ile170=) rs374074035
NM_006231.4(POLE):c.5136C>T (p.Ala1712=) rs1555222447
NM_006231.4(POLE):c.513C>T (p.Ser171=) rs1555230083
NM_006231.4(POLE):c.5157A>T (p.Ser1719=) rs1057523692
NM_006231.4(POLE):c.5173+10C>G rs371098994
NM_006231.4(POLE):c.5337G>A (p.Pro1779=) rs749991080
NM_006231.4(POLE):c.5378+22A>C rs2138522472
NM_006231.4(POLE):c.5378+9C>G rs1177871620
NM_006231.4(POLE):c.5379-7C>T rs1460370920
NM_006231.4(POLE):c.5484A>G (p.Pro1828=) rs770297218
NM_006231.4(POLE):c.549C>A (p.Ala183=) rs1555230075
NM_006231.4(POLE):c.5565G>A (p.Glu1855=) rs1555221780
NM_006231.4(POLE):c.5568C>T (p.Phe1856=) rs1057523481
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.5679-22G>A
NM_006231.4(POLE):c.5757A>G (p.Pro1919=) rs1426714579
NM_006231.4(POLE):c.578+42C>T
NM_006231.4(POLE):c.5811+25C>T
NM_006231.4(POLE):c.5820C>T (p.Ser1940=) rs1593712510
NM_006231.4(POLE):c.6004+24G>T rs1453853935
NM_006231.4(POLE):c.6005-13T>C rs1555221027
NM_006231.4(POLE):c.600C>T (p.Val200=) rs878854888
NM_006231.4(POLE):c.6021G>T (p.Val2007=) rs1057522175
NM_006231.4(POLE):c.6057T>C (p.Ala2019=) rs1057522647
NM_006231.4(POLE):c.6137-19A>T rs1057524544
NM_006231.4(POLE):c.6162T>C (p.Tyr2054=) rs1057523175
NM_006231.4(POLE):c.6246G>A (p.Glu2082=) rs772402355
NM_006231.4(POLE):c.6255G>A (p.Glu2085=) rs1057524260
NM_006231.4(POLE):c.63-52CAG[4]
NM_006231.4(POLE):c.6330+21G>A
NM_006231.4(POLE):c.6331-37G>A rs539858706
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6531+15C>T rs1057523088
NM_006231.4(POLE):c.6531+18C>T rs768260829
NM_006231.4(POLE):c.6531+29C>T
NM_006231.4(POLE):c.6532-29G>T
NM_006231.4(POLE):c.6630G>A (p.Lys2210=) rs1555301066
NM_006231.4(POLE):c.6657+49G>A
NM_006231.4(POLE):c.6658-12G>C rs1555300850
NM_006231.4(POLE):c.6658-17G>C rs1342659224
NM_006231.4(POLE):c.6658-19C>G rs5745081
NM_006231.4(POLE):c.6658-19C>T rs5745081
NM_006231.4(POLE):c.6658-40C>T
NM_006231.4(POLE):c.6675C>G (p.Arg2225=) rs149973644
NM_006231.4(POLE):c.6699T>C (p.Pro2233=) rs1057521409
NM_006231.4(POLE):c.6747+11_6747+14del rs1555300789
NM_006231.4(POLE):c.6747+25G>T
NM_006231.4(POLE):c.6747+28C>T
NM_006231.4(POLE):c.6748-11T>A rs552311764
NM_006231.4(POLE):c.6748-28G>T
NM_006231.4(POLE):c.6748-29G>C
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.6843C>T (p.Asn2281=) rs1166482142
NM_006231.4(POLE):c.687C>T (p.His229=) rs770920362
NM_006231.4(POLE):c.718G>C (p.Val240Leu) rs371882716
NM_006231.4(POLE):c.720+3G>A rs1555229633
NM_006231.4(POLE):c.720+47G>A
NM_006231.4(POLE):c.721-25A>G rs749201176
NM_006231.4(POLE):c.721-35_721-27dup
NM_006231.4(POLE):c.801+18del rs780928647
NM_006231.4(POLE):c.801+48G>T
NM_006231.4(POLE):c.802-6C>T rs754779082
NM_006231.4(POLE):c.837C>G (p.Thr279=) rs927395918
NM_006231.4(POLE):c.900C>T (p.Ile300=) rs1161210567

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