ClinVar Miner

List of variants in gene POLE studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 520
Download table as spreadsheet
HGVS dbSNP
NC_000012.12:g.132659513G>C
NC_000012.12:g.132667657G>A
NC_000012.12:g.132672179_132672180del
NC_000012.12:g.132680049A>G
NM_006231.3(POLE):c.*18G>T rs573406234
NM_006231.3(POLE):c.-15G>A rs554140626
NM_006231.3(POLE):c.-45G>A rs1064795271
NM_006231.3(POLE):c.-47G>T rs1014146082
NM_006231.3(POLE):c.-6G>A rs534524789
NM_006231.3(POLE):c.-6G>C rs534524789
NM_006231.3(POLE):c.-7C>T rs1064796567
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.101G>T (p.Arg34Leu) rs747005851
NM_006231.3(POLE):c.1020+124A>G
NM_006231.3(POLE):c.1020+1G>T rs1064794748
NM_006231.3(POLE):c.1021-20C>G rs1064796140
NM_006231.3(POLE):c.1021-26_1045delinsGTTCTACACC rs1555229232
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) rs137860861
NM_006231.3(POLE):c.1051G>A (p.Val351Ile) rs759414746
NM_006231.3(POLE):c.1055A>C (p.Gln352Pro) rs766094330
NM_006231.3(POLE):c.1064A>G (p.Lys355Arg) rs141396559
NM_006231.3(POLE):c.1088A>G (p.Asn363Ser) rs879254173
NM_006231.3(POLE):c.1089C>G (p.Asn363Lys) rs146639652
NM_006231.3(POLE):c.1106+20A>G rs200322118
NM_006231.3(POLE):c.1106+7C>A rs369889926
NM_006231.3(POLE):c.1106+9G>A
NM_006231.3(POLE):c.1107G>A (p.Trp369Ter) rs1171878347
NM_006231.3(POLE):c.1108C>A (p.Pro370Thr) rs576578672
NM_006231.3(POLE):c.112A>T (p.Ser38Cys) rs879254247
NM_006231.3(POLE):c.1147A>G (p.Met383Val) rs879254238
NM_006231.3(POLE):c.1156G>A (p.Glu386Lys) rs893340262
NM_006231.3(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.3(POLE):c.1180C>T (p.Gln394Ter) rs1565975090
NM_006231.3(POLE):c.1184G>A (p.Gly395Glu) rs546499094
NM_006231.3(POLE):c.1188G>A (p.Glu396=) rs371717068
NM_006231.3(POLE):c.1191C>G (p.Tyr397Ter) rs1208085896
NM_006231.3(POLE):c.1213A>C (p.Met405Leu) rs1064796182
NM_006231.3(POLE):c.1226+45C>T
NM_006231.3(POLE):c.1227-149T>C
NM_006231.3(POLE):c.1227-8C>T rs537816213
NM_006231.3(POLE):c.123G>A (p.Thr41=) rs5744734
NM_006231.3(POLE):c.1242C>T (p.Asp414=) rs775213170
NM_006231.3(POLE):c.1264C>T (p.His422Tyr) rs745356467
NM_006231.3(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006231.3(POLE):c.1274A>G (p.Lys425Arg) rs757186755
NM_006231.3(POLE):c.1280C>T (p.Ala427Val) rs878854841
NM_006231.3(POLE):c.1303G>A (p.Asp435Asn) rs879254276
NM_006231.3(POLE):c.1308C>T (p.Pro436=) rs755627156
NM_006231.3(POLE):c.1323G>A (p.Pro441=) rs116573514
NM_006231.3(POLE):c.1336C>T (p.Arg446Trp) rs200403177
NM_006231.3(POLE):c.1337G>A (p.Arg446Gln) rs151273553
NM_006231.3(POLE):c.1347G>A (p.Thr449=) rs142373951
NM_006231.3(POLE):c.1359+5G>A rs761564635
NM_006231.3(POLE):c.1359+9G>A rs75135381
NM_006231.3(POLE):c.1360-6C>T rs139836643
NM_006231.3(POLE):c.1372T>A (p.Tyr458Asn) rs879254259
NM_006231.3(POLE):c.1376C>G (p.Ser459Cys) rs765702675
NM_006231.3(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.3(POLE):c.1405C>T (p.Leu469=) rs368303888
NM_006231.3(POLE):c.1419C>T (p.Tyr473=) rs369961557
NM_006231.3(POLE):c.1467C>T (p.Pro489=) rs995585765
NM_006231.3(POLE):c.1468G>A (p.Asp490Asn) rs755463796
NM_006231.3(POLE):c.1470C>T (p.Asp490=) rs5744777
NM_006231.3(POLE):c.1487del (p.Gly496fs) rs1555228358
NM_006231.3(POLE):c.1533C>T (p.His511=) rs545378475
NM_006231.3(POLE):c.1534G>A (p.Ala512Thr) rs113998091
NM_006231.3(POLE):c.154C>T (p.Arg52Trp) rs115452881
NM_006231.3(POLE):c.155G>A (p.Arg52Gln) rs372459649
NM_006231.3(POLE):c.1560A>G (p.Gln520=) rs201841065
NM_006231.3(POLE):c.1583C>T (p.Thr528Met) rs116263919
NM_006231.3(POLE):c.1590C>T (p.Asp530=) rs1040269464
NM_006231.3(POLE):c.1608T>C (p.Ser536=) rs763078534
NM_006231.3(POLE):c.1645T>C (p.Ser549Pro) rs115558715
NM_006231.3(POLE):c.1661G>A (p.Ser554Asn) rs1028317886
NM_006231.3(POLE):c.1695C>T (p.Ala565=) rs139748472
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.1707C>T (p.Phe569=) rs147438050
NM_006231.3(POLE):c.1708C>A (p.Leu570Met) rs748807227
NM_006231.3(POLE):c.1717C>T (p.Arg573Trp) rs373000452
NM_006231.3(POLE):c.1729A>G (p.Thr577Ala) rs1565970674
NM_006231.3(POLE):c.1735C>T (p.Arg579Cys) rs116260568
NM_006231.3(POLE):c.1738C>A (p.His580Asn) rs371149234
NM_006231.3(POLE):c.1744C>T (p.Leu582Phe) rs761273376
NM_006231.3(POLE):c.1795-105A>G
NM_006231.3(POLE):c.1795-13G>A rs749522265
NM_006231.3(POLE):c.1795-250C>T
NM_006231.3(POLE):c.1847G>A (p.Arg616His) rs764558974
NM_006231.3(POLE):c.1859C>T (p.Pro620Leu) rs1565966691
NM_006231.3(POLE):c.1863C>G (p.Leu621=) rs767326433
NM_006231.3(POLE):c.1866C>T (p.Ile622=) rs1060504068
NM_006231.3(POLE):c.1868A>G (p.Tyr623Cys) rs150564856
NM_006231.3(POLE):c.1897A>C (p.Asn633His) rs141657198
NM_006231.3(POLE):c.1905C>T (p.Ile635=) rs145203544
NM_006231.3(POLE):c.1924-6T>C rs755311168
NM_006231.3(POLE):c.1924-6del rs758112633
NM_006231.3(POLE):c.1926C>T (p.Pro642=) rs779747873
NM_006231.3(POLE):c.1957G>T (p.Ala653Ser) rs751451482
NM_006231.3(POLE):c.1A>C (p.Met1Leu) rs878854847
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.2016G>A (p.Arg672=) rs991583405
NM_006231.3(POLE):c.2019C>T (p.Gly673=) rs748614767
NM_006231.3(POLE):c.2026+9C>T rs373790607
NM_006231.3(POLE):c.2027-61T>C
NM_006231.3(POLE):c.2043C>T (p.Ser681=) rs554997781
NM_006231.3(POLE):c.2054G>A (p.Arg685Gln) rs770597683
NM_006231.3(POLE):c.207C>G (p.Thr69=) rs146986360
NM_006231.3(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.3(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_006231.3(POLE):c.2083T>G (p.Phe695Val)
NM_006231.3(POLE):c.2085C>T (p.Phe695=) rs1060500837
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.3(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.3(POLE):c.2091del (p.Leu698fs) rs752846614
NM_006231.3(POLE):c.2091dup (p.Phe699fs) rs752846614
NM_006231.3(POLE):c.20_29dup (p.Asp12fs) rs1555231426
NM_006231.3(POLE):c.2106G>T (p.Gly702=) rs5744801
NM_006231.3(POLE):c.2131T>C (p.Ser711Pro) rs374800058
NM_006231.3(POLE):c.2171C>T (p.Ala724Val) rs61734163
NM_006231.3(POLE):c.2172G>A (p.Ala724=) rs372240734
NM_006231.3(POLE):c.2174-8G>A rs117409343
NM_006231.3(POLE):c.2225G>A (p.Arg742His) rs116360781
NM_006231.3(POLE):c.2245C>T (p.Arg749Trp) rs751326135
NM_006231.3(POLE):c.2262C>T (p.Tyr754=) rs145337550
NM_006231.3(POLE):c.2271C>T (p.Thr757=) rs765532123
NM_006231.3(POLE):c.2276G>A (p.Arg759His) rs746774432
NM_006231.3(POLE):c.2284C>T (p.Arg762Trp) rs1064794759
NM_006231.3(POLE):c.228G>A (p.Lys76=)
NM_006231.3(POLE):c.2320-113T>C
NM_006231.3(POLE):c.2320-13A>G rs75329753
NM_006231.3(POLE):c.2320-156C>T
NM_006231.3(POLE):c.2320-68G>A
NM_006231.3(POLE):c.2321T>C (p.Val774Ala) rs771591846
NM_006231.3(POLE):c.2340G>A (p.Ser780=) rs5744822
NM_006231.3(POLE):c.2340G>C (p.Ser780=) rs5744822
NM_006231.3(POLE):c.2340_2342GGC[1] (p.Ala782del) rs1064796065
NM_006231.3(POLE):c.2363C>T (p.Ala788Val) rs1060500813
NM_006231.3(POLE):c.2377C>T (p.Arg793Cys) rs376624527
NM_006231.3(POLE):c.239G>A (p.Ser80Asn) rs1064795406
NM_006231.3(POLE):c.241G>A (p.Ala81Thr) rs749720207
NM_006231.3(POLE):c.2442C>T (p.Ser814=) rs377036799
NM_006231.3(POLE):c.2465_2467dup (p.Gly823_Ala824insGlu) rs1237046519
NM_006231.3(POLE):c.2468+10C>T rs5744823
NM_006231.3(POLE):c.2469-15G>A rs5744833
NM_006231.3(POLE):c.2469-227C>T
NM_006231.3(POLE):c.2469-242G>A
NM_006231.3(POLE):c.2469-5C>T rs1565961371
NM_006231.3(POLE):c.2487G>A (p.Met829Ile) rs372109189
NM_006231.3(POLE):c.2510T>C (p.Phe837Ser) rs139182500
NM_006231.3(POLE):c.2550C>T (p.Ile850=) rs5744834
NM_006231.3(POLE):c.2561+6T>C rs116231808
NM_006231.3(POLE):c.2562-2A>C rs751662353
NM_006231.3(POLE):c.2562-48T>C
NM_006231.3(POLE):c.2575C>T (p.Leu859=) rs1565960909
NM_006231.3(POLE):c.2599G>A (p.Val867Ile) rs374200895
NM_006231.3(POLE):c.2602C>T (p.Leu868=) rs115830215
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.2707G>T (p.Glu903Ter) rs1555226066
NM_006231.3(POLE):c.270del (p.Asp90fs) rs878854854
NM_006231.3(POLE):c.272G>A (p.Gly91Glu) rs376348304
NM_006231.3(POLE):c.2770C>T (p.Arg924Cys) rs369751686
NM_006231.3(POLE):c.2773T>C (p.Ser925Pro) rs141552148
NM_006231.3(POLE):c.2792T>C (p.Phe931Ser) rs376546593
NM_006231.3(POLE):c.2818A>G (p.Met940Val) rs148382941
NM_006231.3(POLE):c.286-96G>A
NM_006231.3(POLE):c.2864+8T>C rs878854856
NM_006231.3(POLE):c.2865-17dup rs369732588
NM_006231.3(POLE):c.2879A>G (p.Asn960Ser) rs746311547
NM_006231.3(POLE):c.28C>T (p.Arg10Cys) rs1245695191
NM_006231.3(POLE):c.2928C>T (p.Arg976=) rs5744845
NM_006231.3(POLE):c.2935C>T (p.Leu979=) rs56081968
NM_006231.3(POLE):c.296C>T (p.Pro99Leu) rs5744739
NM_006231.3(POLE):c.2974G>A (p.Ala992Thr) rs115193764
NM_006231.3(POLE):c.2993C>T (p.Thr998Met) rs989886155
NM_006231.3(POLE):c.2T>A (p.Met1Lys) rs879254126
NM_006231.3(POLE):c.2T>C (p.Met1Thr) rs879254126
NM_006231.3(POLE):c.3015T>C (p.Ser1005=) rs376781169
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.3049C>T (p.Leu1017=) rs371831931
NM_006231.3(POLE):c.3054C>T (p.Tyr1018=) rs201249963
NM_006231.3(POLE):c.3060+188A>T
NM_006231.3(POLE):c.3060+189C>T
NM_006231.3(POLE):c.3090C>T (p.Phe1030=) rs766306895
NM_006231.3(POLE):c.3126G>A (p.Lys1042=) rs5744856
NM_006231.3(POLE):c.3135T>C (p.Asp1045=) rs748871390
NM_006231.3(POLE):c.3142G>A (p.Glu1048Lys) rs1164020030
NM_006231.3(POLE):c.3151T>C (p.Ser1051Pro) rs1064796258
NM_006231.3(POLE):c.3156G>A (p.Thr1052=) rs5744857
NM_006231.3(POLE):c.318T>C (p.Ile106=) rs770759936
NM_006231.3(POLE):c.3229C>T (p.Arg1077Cys) rs149777592
NM_006231.3(POLE):c.3230G>A (p.Arg1077His) rs768950975
NM_006231.3(POLE):c.3245G>A (p.Arg1082His) rs201744227
NM_006231.3(POLE):c.3275+92T>C
NM_006231.3(POLE):c.3276-186_3276-185insACAC
NM_006231.3(POLE):c.3311C>T (p.Thr1104Met) rs531705054
NM_006231.3(POLE):c.3318G>T (p.Arg1106Ser)
NM_006231.3(POLE):c.3367G>C (p.Asp1123His) rs1565953965
NM_006231.3(POLE):c.3373C>T (p.Arg1125Ter) rs139603739
NM_006231.3(POLE):c.3377C>T (p.Ala1126Val) rs373707446
NM_006231.3(POLE):c.3378+7G>T rs755370377
NM_006231.3(POLE):c.3379-12C>T rs187618435
NM_006231.3(POLE):c.3379-5T>C rs5744886
NM_006231.3(POLE):c.3387T>C (p.Asp1129=) rs371357642
NM_006231.3(POLE):c.3396C>T (p.Tyr1132=)
NM_006231.3(POLE):c.3411G>A (p.Leu1137=) rs368920055
NM_006231.3(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer) rs1555225201
NM_006231.3(POLE):c.3441C>T (p.Ile1147=) rs748278223
NM_006231.3(POLE):c.347T>C (p.Val116Ala) rs771744496
NM_006231.3(POLE):c.3489C>T (p.His1163=) rs5744888
NM_006231.3(POLE):c.3497G>A (p.Trp1166Ter) rs1426673673
NM_006231.3(POLE):c.351A>G (p.Ser117=) rs199773841
NM_006231.3(POLE):c.3546G>A (p.Lys1182=) rs1393231299
NM_006231.3(POLE):c.355T>A (p.Phe119Ile) rs879254235
NM_006231.3(POLE):c.3582+17A>G rs5744889
NM_006231.3(POLE):c.3582+6G>A rs113307290
NM_006231.3(POLE):c.3582+7G>A rs558837073
NM_006231.3(POLE):c.3583-164T>C
NM_006231.3(POLE):c.3587C>T (p.Thr1196Met) rs866237249
NM_006231.3(POLE):c.3595G>A (p.Glu1199Lys) rs1012418859
NM_006231.3(POLE):c.3614C>A (p.Pro1205Gln) rs772686048
NM_006231.3(POLE):c.3617G>T (p.Arg1206Met) rs1060500839
NM_006231.3(POLE):c.3645C>T (p.Phe1215=) rs758716323
NM_006231.3(POLE):c.3652G>A (p.Val1218Ile) rs756246229
NM_006231.3(POLE):c.3669_3671AGC[3] (p.Ala1225dup) rs750939989
NM_006231.3(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.3(POLE):c.3677C>T (p.Pro1226Leu) rs1390451656
NM_006231.3(POLE):c.369G>A (p.Lys123=) rs1328407908
NM_006231.3(POLE):c.3716A>G (p.Gln1239Arg) rs146210785
NM_006231.3(POLE):c.3718G>A (p.Glu1240Lys) rs113594027
NM_006231.3(POLE):c.3740C>T (p.Pro1247Leu) rs572986717
NM_006231.3(POLE):c.3745G>A (p.Val1249Met) rs762626359
NM_006231.3(POLE):c.3778G>A (p.Ala1260Thr) rs143858927
NM_006231.3(POLE):c.3796-58A>G
NM_006231.3(POLE):c.3808G>A (p.Val1270Ile) rs199574832
NM_006231.3(POLE):c.3851G>A (p.Arg1284Gln) rs149462407
NM_006231.3(POLE):c.3857G>A (p.Arg1286His) rs771823596
NM_006231.3(POLE):c.3857G>T (p.Arg1286Leu)
NM_006231.3(POLE):c.3858_3881del (p.Ala1288_Leu1295del) rs759449495
NM_006231.3(POLE):c.3862G>A (p.Ala1288Thr) rs200398117
NM_006231.3(POLE):c.3881G>A (p.Arg1294His) rs115455318
NM_006231.3(POLE):c.3913G>A (p.Gly1305Arg) rs563990655
NM_006231.3(POLE):c.391G>T (p.Val131Leu) rs745601745
NM_006231.3(POLE):c.3922C>T (p.Arg1308Trp) rs763854815
NM_006231.3(POLE):c.3926A>G (p.Asp1309Gly) rs776828609
NM_006231.3(POLE):c.3970C>T (p.Arg1324Cys) rs779464847
NM_006231.3(POLE):c.3971G>A (p.Arg1324His) rs143981093
NM_006231.3(POLE):c.3990G>A (p.Pro1330=)
NM_006231.3(POLE):c.4046C>T (p.Ala1349Val) rs536988344
NM_006231.3(POLE):c.4047G>A (p.Ala1349=) rs201746181
NM_006231.3(POLE):c.404C>A (p.Pro135His) rs1565980234
NM_006231.3(POLE):c.4051G>A (p.Val1351Ile) rs138443282
NM_006231.3(POLE):c.4055G>C (p.Gly1352Ala) rs147088333
NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) rs141619382
NM_006231.3(POLE):c.4077G>T (p.Arg1359Ser) rs1064796047
NM_006231.3(POLE):c.4102G>A (p.Val1368Met) rs770558983
NM_006231.3(POLE):c.4149+152C>T
NM_006231.3(POLE):c.4149+2T>C rs1064796760
NM_006231.3(POLE):c.4150-107C>T
NM_006231.3(POLE):c.4150-17C>T rs758539843
NM_006231.3(POLE):c.4150-6C>T rs756837862
NM_006231.3(POLE):c.4150-90dup
NM_006231.3(POLE):c.4157G>A (p.Arg1386Gln) rs969355093
NM_006231.3(POLE):c.4168C>T (p.Arg1390Cys) rs768504121
NM_006231.3(POLE):c.4169G>A (p.Arg1390His) rs200776293
NM_006231.3(POLE):c.4172C>G (p.Ser1391Cys) rs149145495
NM_006231.3(POLE):c.4187A>G (p.Asn1396Ser) rs5744934
NM_006231.3(POLE):c.4220A>G (p.Tyr1407Cys) rs775556994
NM_006231.3(POLE):c.4225G>A (p.Glu1409Lys) rs1060500845
NM_006231.3(POLE):c.4229A>C (p.His1410Pro) rs1313711311
NM_006231.3(POLE):c.4236C>T (p.Asn1412=) rs377245595
NM_006231.3(POLE):c.4237G>A (p.Glu1413Lys) rs372901803
NM_006231.3(POLE):c.4244A>G (p.Asn1415Ser) rs748378612
NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr) rs146711942
NM_006231.3(POLE):c.4259C>T (p.Ala1420Val) rs41561818
NM_006231.3(POLE):c.4267A>G (p.Ile1423Val) rs139498590
NM_006231.3(POLE):c.4269C>T (p.Ile1423=) rs761413102
NM_006231.3(POLE):c.427A>G (p.Asn143Asp)
NM_006231.3(POLE):c.4290+102A>T
NM_006231.3(POLE):c.4290+1G>A rs1565940214
NM_006231.3(POLE):c.4290+5C>T rs5744936
NM_006231.3(POLE):c.4291-12C>T rs564807391
NM_006231.3(POLE):c.4353G>A (p.Leu1451=) rs769149466
NM_006231.3(POLE):c.4370G>T (p.Gly1457Val) rs776534749
NM_006231.3(POLE):c.4390G>C (p.Ala1464Pro) rs778717624
NM_006231.3(POLE):c.4444+4T>A rs5744941
NM_006231.3(POLE):c.4445-33C>T
NM_006231.3(POLE):c.4445G>A (p.Gly1482Glu) rs1555222946
NM_006231.3(POLE):c.4450A>G (p.Ile1484Val) rs772734618
NM_006231.3(POLE):c.4461C>T (p.Ile1487=) rs536917758
NM_006231.3(POLE):c.446A>G (p.Lys149Arg) rs374428362
NM_006231.3(POLE):c.4476C>A (p.His1492Gln) rs5744943
NM_006231.3(POLE):c.4477G>A (p.Ala1493Thr) rs748522633
NM_006231.3(POLE):c.4478_4479CA[1] (p.Gln1494fs)
NM_006231.3(POLE):c.4494G>A (p.Ala1498=) rs777611171
NM_006231.3(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.3(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.3(POLE):c.4525A>G (p.Arg1509Gly) rs1060500816
NM_006231.3(POLE):c.4530A>G (p.Ala1510=) rs5744944
NM_006231.3(POLE):c.4534G>A (p.Val1512Ile) rs147354120
NM_006231.3(POLE):c.4541T>C (p.Val1514Ala) rs116742454
NM_006231.3(POLE):c.4551+10G>A rs1565938933
NM_006231.3(POLE):c.4552-10G>T rs5744946
NM_006231.3(POLE):c.4552-5T>A rs1064795991
NM_006231.3(POLE):c.4555C>T (p.Arg1519Cys) rs542430685
NM_006231.3(POLE):c.456C>T (p.Tyr152=)
NM_006231.3(POLE):c.4587G>A (p.Leu1529=) rs1565938547
NM_006231.3(POLE):c.4603G>A (p.Gly1535Ser) rs138564205
NM_006231.3(POLE):c.461G>A (p.Arg154Lys) rs769882912
NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.3(POLE):c.4647dup (p.Lys1550fs) rs754220952
NM_006231.3(POLE):c.4660G>A (p.Glu1554Lys) rs143247306
NM_006231.3(POLE):c.4680C>T (p.Asp1560=) rs774425403
NM_006231.3(POLE):c.4719C>T (p.Leu1573=) rs115219846
NM_006231.3(POLE):c.4730A>C (p.Glu1577Ala) rs5744948
NM_006231.3(POLE):c.4731G>A (p.Glu1577=) rs772361606
NM_006231.3(POLE):c.4792A>C (p.Ser1598Arg) rs776538943
NM_006231.3(POLE):c.4812G>C (p.Glu1604Asp) rs1064794898
NM_006231.3(POLE):c.4831A>C (p.Ile1611Leu) rs551368454
NM_006231.3(POLE):c.4857_4858insA (p.Gly1620fs) rs1432073374
NM_006231.3(POLE):c.4872G>A (p.Trp1624Ter) rs754982151
NM_006231.3(POLE):c.4873C>G (p.Gln1625Glu) rs1064794648
NM_006231.3(POLE):c.4891C>T (p.Arg1631Cys) rs565413729
NM_006231.3(POLE):c.4892G>A (p.Arg1631His) rs775590365
NM_006231.3(POLE):c.4894A>G (p.Met1632Val) rs1565937490
NM_006231.3(POLE):c.48T>C (p.Asp16=) rs1057523833
NM_006231.3(POLE):c.4901G>A (p.Arg1634His) rs760149463
NM_006231.3(POLE):c.4941C>T (p.Phe1647=) rs145639967
NM_006231.3(POLE):c.4942G>A (p.Glu1648Lys) rs532781183
NM_006231.3(POLE):c.4992C>T (p.Ile1664=) rs1555222515
NM_006231.3(POLE):c.5001C>T (p.Phe1667=) rs112358554
NM_006231.3(POLE):c.5007C>T (p.Ser1669=) rs146761597
NM_006231.3(POLE):c.5010C>T (p.Asp1670=)
NM_006231.3(POLE):c.5036G>T (p.Arg1679Leu) rs748940418
NM_006231.3(POLE):c.5060C>A (p.Ser1687Tyr) rs1565936909
NM_006231.3(POLE):c.5090A>G (p.Lys1697Arg) rs879254207
NM_006231.3(POLE):c.5090_5092AGG[1] (p.Glu1698del) rs1555222471
NM_006231.3(POLE):c.5124C>T (p.Phe1708=) rs114891564
NM_006231.3(POLE):c.5125G>A (p.Asp1709Asn) rs572502366
NM_006231.3(POLE):c.5135C>T (p.Ala1712Val) rs5744950
NM_006231.3(POLE):c.5173+10C>T rs371098994
NM_006231.3(POLE):c.5173+17A>G rs368209692
NM_006231.3(POLE):c.5173+18C>T rs201587262
NM_006231.3(POLE):c.5174T>C (p.Val1725Ala) rs1064796427
NM_006231.3(POLE):c.519C>T (p.Ala173=) rs187690610
NM_006231.3(POLE):c.51C>G (p.Gly17=) rs780436496
NM_006231.3(POLE):c.5215A>G (p.Ile1739Val) rs1064794641
NM_006231.3(POLE):c.5237A>G (p.Asn1746Ser) rs377461656
NM_006231.3(POLE):c.5237A>T (p.Asn1746Ile) rs377461656
NM_006231.3(POLE):c.5278G>A (p.Val1760Met) rs373272795
NM_006231.3(POLE):c.5312C>T (p.Thr1771Met) rs777695766
NM_006231.3(POLE):c.5313G>T (p.Thr1771=) rs201803493
NM_006231.3(POLE):c.5334C>T (p.Ala1778=) rs11146986
NM_006231.3(POLE):c.5346C>T (p.Tyr1782=) rs761902063
NM_006231.3(POLE):c.5361del (p.Cys1788fs) rs752558475
NM_006231.3(POLE):c.5378+1G>T
NM_006231.3(POLE):c.5379-19C>T rs376722984
NM_006231.3(POLE):c.5382C>G (p.Ile1794Met) rs368364666
NM_006231.3(POLE):c.546C>T (p.His182=) rs115257501
NM_006231.3(POLE):c.5476C>T (p.Arg1826Trp) rs762000608
NM_006231.3(POLE):c.5478G>T (p.Arg1826=) rs537648186
NM_006231.3(POLE):c.5480C>T (p.Ser1827Leu) rs763031537
NM_006231.3(POLE):c.5496T>C (p.Leu1832=) rs147543146
NM_006231.3(POLE):c.5515C>T (p.Arg1839Cys) rs141519273
NM_006231.3(POLE):c.553G>A (p.Asp185Asn) rs369506007
NM_006231.3(POLE):c.5553-12C>G rs766922669
NM_006231.3(POLE):c.5553-1G>A rs1064796152
NM_006231.3(POLE):c.5553-43T>C
NM_006231.3(POLE):c.5553-7T>C
NM_006231.3(POLE):c.5569A>G (p.Lys1857Glu) rs773659817
NM_006231.3(POLE):c.556G>A (p.Ala186Thr) rs375213599
NM_006231.3(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.3(POLE):c.5572C>T (p.Arg1858Cys) rs1193081581
NM_006231.3(POLE):c.5583A>C (p.Ser1861=) rs5744972
NM_006231.3(POLE):c.5596G>A (p.Ala1866Thr) rs377662540
NM_006231.3(POLE):c.5607C>T (p.Asn1869=) rs1565932038
NM_006231.3(POLE):c.5608C>T (p.Arg1870Cys) rs138231414
NM_006231.3(POLE):c.561C>T (p.Tyr187=) rs143938822
NM_006231.3(POLE):c.5633G>A (p.Arg1878His) rs374022997
NM_006231.3(POLE):c.5653G>A (p.Ala1885Thr) rs748008084
NM_006231.3(POLE):c.5659G>A (p.Val1887Met) rs114119067
NM_006231.3(POLE):c.5662G>A (p.Glu1888Lys) rs368363850
NM_006231.3(POLE):c.5668A>G (p.Ile1890Val) rs745804149
NM_006231.3(POLE):c.5678+212G>A
NM_006231.3(POLE):c.5678+4C>T rs5744973
NM_006231.3(POLE):c.5678+5G>A rs779223088
NM_006231.3(POLE):c.5678+6G>A
NM_006231.3(POLE):c.5678+78C>G
NM_006231.3(POLE):c.5679-127G>A
NM_006231.3(POLE):c.5679-82A>G
NM_006231.3(POLE):c.5707C>T (p.Leu1903=) rs5744990
NM_006231.3(POLE):c.5726G>A (p.Arg1909Gln) rs201455049
NM_006231.3(POLE):c.5761A>G (p.Asn1921Asp) rs771980261
NM_006231.3(POLE):c.5769C>T (p.Gly1923=) rs375198950
NM_006231.3(POLE):c.5770G>A (p.Gly1924Arg) rs371862779
NM_006231.3(POLE):c.577A>G (p.Ser193Gly) rs760588718
NM_006231.3(POLE):c.579-140T>G
NM_006231.3(POLE):c.5792C>T (p.Ser1931Phe) rs879254232
NM_006231.3(POLE):c.5794C>T (p.Arg1932Cys) rs879254168
NM_006231.3(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991
NM_006231.3(POLE):c.5812-123G>A
NM_006231.3(POLE):c.5812-21G>A
NM_006231.3(POLE):c.5812-95A>G
NM_006231.3(POLE):c.5866G>A (p.Glu1956Lys) rs749992643
NM_006231.3(POLE):c.5871G>A (p.Glu1957=)
NM_006231.3(POLE):c.5900C>T (p.Ala1967Val) rs201273415
NM_006231.3(POLE):c.5907A>C (p.Glu1969Asp)
NM_006231.3(POLE):c.590G>C (p.Arg197Thr) rs528361482
NM_006231.3(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579
NM_006231.3(POLE):c.5966C>G (p.Ala1989Gly) rs745501021
NM_006231.3(POLE):c.6004+11A>G rs201591857
NM_006231.3(POLE):c.6005-12G>A
NM_006231.3(POLE):c.6005-212A>G
NM_006231.3(POLE):c.6012C>T (p.Ile2004=) rs147806951
NM_006231.3(POLE):c.6018C>T (p.Ala2006=) rs111709550
NM_006231.3(POLE):c.602T>C (p.Ile201Thr) rs375209004
NM_006231.3(POLE):c.6039C>T (p.Asp2013=) rs371563366
NM_006231.3(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.3(POLE):c.6068C>T (p.Thr2023Ile) rs771628123
NM_006231.3(POLE):c.6086G>A (p.Gly2029Glu) rs879254239
NM_006231.3(POLE):c.6112G>A (p.Glu2038Lys) rs181570274
NM_006231.3(POLE):c.6120G>A (p.Ala2040=) rs777260502
NM_006231.3(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616
NM_006231.3(POLE):c.6166G>A (p.Ala2056Thr) rs58916399
NM_006231.3(POLE):c.6177C>T (p.Leu2059=) rs1565926820
NM_006231.3(POLE):c.62+15C>T rs2075784
NM_006231.3(POLE):c.62+97T>G
NM_006231.3(POLE):c.6232C>T (p.Arg2078Trp) rs1060500867
NM_006231.3(POLE):c.6252A>G (p.Ser2084=) rs5745022
NM_006231.3(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.3(POLE):c.63-139_63-135del
NM_006231.3(POLE):c.63-223G>A
NM_006231.3(POLE):c.631A>T (p.Ile211Leu) rs1064796126
NM_006231.3(POLE):c.6328A>G (p.Lys2110Glu) rs746736600
NM_006231.3(POLE):c.6330+15G>A rs5745023
NM_006231.3(POLE):c.6330+209A>G
NM_006231.3(POLE):c.6331-8C>T rs769766403
NM_006231.3(POLE):c.6334C>G (p.Leu2112Val) rs373443211
NM_006231.3(POLE):c.6354C>T (p.Ile2118=) rs547872135
NM_006231.3(POLE):c.6391C>T (p.Arg2131Cys) rs369748519
NM_006231.3(POLE):c.6405C>T (p.Val2135=) rs139607077
NM_006231.3(POLE):c.6408C>T (p.Gly2136=) rs1057524549
NM_006231.3(POLE):c.6417C>T (p.Ser2139=) rs766935890
NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys) rs5745066
NM_006231.3(POLE):c.6418del (p.Glu2140fs) rs1064794703
NM_006231.3(POLE):c.6427C>A (p.Gln2143Lys) rs1566309175
NM_006231.3(POLE):c.6446G>A (p.Arg2149His) rs201165149
NM_006231.3(POLE):c.6446G>T (p.Arg2149Leu) rs201165149
NM_006231.3(POLE):c.6453C>T (p.Tyr2151=) rs116076060
NM_006231.3(POLE):c.6454G>A (p.Val2152Met) rs138789360
NM_006231.3(POLE):c.6457del (p.Leu2153fs) rs1064794611
NM_006231.3(POLE):c.6466G>A (p.Val2156Ile) rs542978638
NM_006231.3(POLE):c.6476G>A (p.Arg2159His) rs373092830
NM_006231.3(POLE):c.6494G>A (p.Arg2165His) rs5745068
NM_006231.3(POLE):c.6495C>T (p.Arg2165=) rs114778730
NM_006231.3(POLE):c.6516_6517CT[1] (p.Ser2173fs) rs774417192
NM_006231.3(POLE):c.6531+18C>T
NM_006231.3(POLE):c.6532-14C>G rs1483343976
NM_006231.3(POLE):c.6532-4C>G
NM_006231.3(POLE):c.6537_6541del (p.Ala2180fs) rs879254107
NM_006231.3(POLE):c.6539C>T (p.Ala2180Val) rs552452448
NM_006231.3(POLE):c.6575C>T (p.Ala2192Val) rs756301031
NM_006231.3(POLE):c.6590C>T (p.Ser2197Phe) rs1489412079
NM_006231.3(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006231.3(POLE):c.664C>G (p.Arg222Gly) rs767503360
NM_006231.3(POLE):c.6657+16C>T rs5745075
NM_006231.3(POLE):c.6658-19C>G rs5745081
NM_006231.3(POLE):c.6658-200C>T
NM_006231.3(POLE):c.6658-7C>A rs531482240
NM_006231.3(POLE):c.6658-88G>A
NM_006231.3(POLE):c.665G>A (p.Arg222His) rs1060500862
NM_006231.3(POLE):c.6668A>G (p.Lys2223Arg) rs367970442
NM_006231.3(POLE):c.6674G>A (p.Arg2225His) rs538875477
NM_006231.3(POLE):c.6675C>T (p.Arg2225=) rs149973644
NM_006231.3(POLE):c.6678G>A (p.Gly2226=) rs1162754521
NM_006231.3(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.3(POLE):c.6716C>T (p.Ala2239Val) rs190813054
NM_006231.3(POLE):c.6730C>T (p.Leu2244Phe) rs375741031
NM_006231.3(POLE):c.6734C>G (p.Thr2245Ser) rs747676884
NM_006231.3(POLE):c.6763A>G (p.Ile2255Val) rs73155056
NM_006231.3(POLE):c.6763A>T (p.Ile2255Phe) rs73155056
NM_006231.3(POLE):c.6765C>G (p.Ile2255Met)
NM_006231.3(POLE):c.6766G>A (p.Gly2256Arg) rs116323660
NM_006231.3(POLE):c.6775C>T (p.Arg2259Trp) rs866548835
NM_006231.3(POLE):c.6777G>C (p.Arg2259=) rs540203276
NM_006231.3(POLE):c.6795C>T (p.Tyr2265=) rs142222159
NM_006231.3(POLE):c.6817A>T (p.Thr2273Ser) rs73481453
NM_006231.3(POLE):c.6820C>G (p.Leu2274Val) rs148788180
NM_006231.3(POLE):c.691C>T (p.Arg231Cys) rs146592584
NM_006231.3(POLE):c.712A>T (p.Ile238Phe) rs536684123
NM_006231.3(POLE):c.721-54A>G
NM_006231.3(POLE):c.723T>A (p.Ala241=) rs144422646
NM_006231.3(POLE):c.73G>A (p.Ala25Thr) rs773204331
NM_006231.3(POLE):c.755C>T (p.Ala252Val) rs5744751
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.3(POLE):c.779G>A (p.Arg260Gln) rs5744752
NM_006231.3(POLE):c.786C>T (p.Asp262=) rs201223598
NM_006231.3(POLE):c.797G>A (p.Arg266Gln) rs115786159
NM_006231.3(POLE):c.801+62C>T
NM_006231.3(POLE):c.801+78A>G
NM_006231.3(POLE):c.802-71T>C
NM_006231.3(POLE):c.808G>A (p.Val270Met) rs374237142
NM_006231.3(POLE):c.823G>C (p.Asp275His) rs879254218
NM_006231.3(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.3(POLE):c.84A>T (p.Ser28=) rs774280853
NM_006231.3(POLE):c.850A>G (p.Lys284Glu) rs568483856
NM_006231.3(POLE):c.850_851del (p.Lys284fs) rs1555229421
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.3(POLE):c.87T>G (p.Val29=) rs1565981775
NM_006231.3(POLE):c.903T>C (p.Asp301=)
NM_006231.3(POLE):c.909G>C (p.Gln303His)
NM_006231.3(POLE):c.910-157A>G
NM_006231.3(POLE):c.910-6G>C rs4077170
NM_006231.3(POLE):c.912C>T (p.Gly304=) rs1064794932
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
NM_006231.3(POLE):c.942A>C (p.Ser314=) rs548933169

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.