ClinVar Miner

List of variants in gene POLR1A reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 331
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015425.6(POLR1A):c.1187G>A (p.Ser396Asn) rs35443467 0.00763
NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro) rs146078741 0.00557
NM_015425.6(POLR1A):c.537A>C (p.Ala179=) rs114299317 0.00295
NM_015425.6(POLR1A):c.2040G>A (p.Pro680=) rs112708556 0.00281
NM_015425.6(POLR1A):c.1511G>A (p.Arg504His) rs142266408 0.00229
NM_015425.6(POLR1A):c.4412A>G (p.Glu1471Gly) rs61731718 0.00222
NM_015425.6(POLR1A):c.2017C>G (p.Pro673Ala) rs191928354 0.00170
NM_015425.6(POLR1A):c.1097C>T (p.Ser366Phe) rs183490100 0.00142
NM_015425.6(POLR1A):c.450C>T (p.Pro150=) rs187487275 0.00116
NM_015425.6(POLR1A):c.1089A>G (p.Glu363=) rs201760128 0.00098
NM_015425.6(POLR1A):c.4989G>A (p.Arg1663=) rs147245488 0.00094
NM_015425.6(POLR1A):c.4273-5G>A rs370722814 0.00092
NM_015425.6(POLR1A):c.2039C>T (p.Pro680Leu) rs188057926 0.00069
NM_015425.6(POLR1A):c.1580C>T (p.Thr527Met) rs373804876 0.00064
NM_015425.6(POLR1A):c.3420C>T (p.Ala1140=) rs141026251 0.00061
NM_015425.6(POLR1A):c.878A>G (p.Asn293Ser) rs200158753 0.00056
NM_015425.6(POLR1A):c.4716C>T (p.Asn1572=) rs200374085 0.00050
NM_015425.6(POLR1A):c.1323G>A (p.Ala441=) rs372447807 0.00046
NM_015425.6(POLR1A):c.4323C>T (p.Asp1441=) rs371206733 0.00043
NM_015425.6(POLR1A):c.4272+14T>A rs545170298 0.00039
NM_015425.6(POLR1A):c.4908C>T (p.Val1636=) rs138896884 0.00029
NM_015425.6(POLR1A):c.153C>T (p.Tyr51=) rs370186256 0.00026
NM_015425.6(POLR1A):c.4689C>T (p.Leu1563=) rs180684648 0.00024
NM_015425.6(POLR1A):c.5079G>C (p.Leu1693=) rs148083939 0.00023
NM_015425.6(POLR1A):c.2209-16G>A rs369945407 0.00021
NM_015425.6(POLR1A):c.3615T>C (p.Cys1205=) rs377096813 0.00020
NM_015425.6(POLR1A):c.4311C>T (p.Gly1437=) rs552902907 0.00019
NM_015425.6(POLR1A):c.818-14T>C rs189807884 0.00019
NM_015425.6(POLR1A):c.4528C>T (p.Pro1510Ser) rs761491319 0.00016
NM_015425.6(POLR1A):c.102G>A (p.Thr34=) rs376601511 0.00015
NM_015425.6(POLR1A):c.1503C>T (p.Asp501=) rs543626300 0.00014
NM_015425.6(POLR1A):c.2001C>T (p.Arg667=) rs376203349 0.00014
NM_015425.6(POLR1A):c.768A>G (p.Leu256=) rs200970625 0.00014
NM_015425.6(POLR1A):c.4023C>T (p.Phe1341=) rs756071882 0.00010
NM_015425.6(POLR1A):c.1542G>A (p.Gln514=) rs772316029 0.00009
NM_015425.6(POLR1A):c.4161+14C>G rs183759363 0.00009
NM_015425.6(POLR1A):c.731-10T>A rs374454351 0.00009
NM_015425.6(POLR1A):c.4164A>T (p.Gly1388=) rs201310010 0.00007
NM_015425.6(POLR1A):c.390G>A (p.Gly130=) rs769169893 0.00006
NM_015425.6(POLR1A):c.4909G>A (p.Asp1637Asn) rs193068975 0.00006
NM_015425.6(POLR1A):c.1380+14T>C rs781516662 0.00005
NM_015425.6(POLR1A):c.282+12C>G rs766580750 0.00005
NM_015425.6(POLR1A):c.786C>T (p.Arg262=) rs755173339 0.00005
NM_015425.6(POLR1A):c.138G>A (p.Ser46=) rs372225056 0.00004
NM_015425.6(POLR1A):c.3687C>T (p.Asn1229=) rs888415102 0.00004
NM_015425.6(POLR1A):c.4137C>T (p.Asn1379=) rs373534289 0.00004
NM_015425.6(POLR1A):c.4434C>A (p.Ala1478=) rs759398612 0.00004
NM_015425.6(POLR1A):c.4443G>A (p.Thr1481=) rs771491526 0.00004
NM_015425.6(POLR1A):c.4473G>C (p.Glu1491Asp) rs776089249 0.00004
NM_015425.6(POLR1A):c.4833G>A (p.Thr1611=) rs763548965 0.00004
NM_015425.6(POLR1A):c.4851G>A (p.Ala1617=) rs1219659848 0.00004
NM_015425.6(POLR1A):c.5062+9G>A rs770112715 0.00004
NM_015425.6(POLR1A):c.915G>A (p.Pro305=) rs774970769 0.00004
NM_015425.6(POLR1A):c.945A>G (p.Leu315=) rs754927548 0.00004
NM_015425.6(POLR1A):c.966T>C (p.Asn322=) rs372688066 0.00004
NM_015425.6(POLR1A):c.1167C>T (p.Asn389=) rs1373963220 0.00003
NM_015425.6(POLR1A):c.3135+17C>T rs773082259 0.00003
NM_015425.6(POLR1A):c.534C>T (p.Gly178=) rs199538363 0.00003
NM_015425.6(POLR1A):c.1551C>T (p.Ala517=) rs377476914 0.00002
NM_015425.6(POLR1A):c.3498G>A (p.Lys1166=) rs768613840 0.00002
NM_015425.6(POLR1A):c.4362A>G (p.Glu1454=) rs1469251173 0.00002
NM_015425.6(POLR1A):c.5115C>T (p.Val1705=) rs755691928 0.00002
NM_015425.6(POLR1A):c.126G>C (p.Leu42=) rs754065957 0.00001
NM_015425.6(POLR1A):c.1279C>T (p.Leu427=) rs776569688 0.00001
NM_015425.6(POLR1A):c.1875A>G (p.Gln625=) rs1446458073 0.00001
NM_015425.6(POLR1A):c.1893C>A (p.Ile631=) rs756296810 0.00001
NM_015425.6(POLR1A):c.1998G>A (p.Gly666=) rs1171778888 0.00001
NM_015425.6(POLR1A):c.2058+12A>T rs746253437 0.00001
NM_015425.6(POLR1A):c.2058+14A>G rs781436654 0.00001
NM_015425.6(POLR1A):c.2358C>T (p.Thr786=) rs774659035 0.00001
NM_015425.6(POLR1A):c.2475+15C>T rs958235624 0.00001
NM_015425.6(POLR1A):c.2523G>A (p.Glu841=) rs557807677 0.00001
NM_015425.6(POLR1A):c.267C>T (p.Asn89=) rs147403544 0.00001
NM_015425.6(POLR1A):c.2733+14C>T rs753881669 0.00001
NM_015425.6(POLR1A):c.2733+15G>A rs549815945 0.00001
NM_015425.6(POLR1A):c.286C>T (p.Leu96=) rs1392332426 0.00001
NM_015425.6(POLR1A):c.3136-8T>C rs779127006 0.00001
NM_015425.6(POLR1A):c.3381G>A (p.Leu1127=) rs748040705 0.00001
NM_015425.6(POLR1A):c.3417G>A (p.Ala1139=) rs543854841 0.00001
NM_015425.6(POLR1A):c.3501T>G (p.Val1167=) rs749239874 0.00001
NM_015425.6(POLR1A):c.354C>T (p.His118=) rs772833934 0.00001
NM_015425.6(POLR1A):c.3720C>T (p.Asn1240=) rs373364341 0.00001
NM_015425.6(POLR1A):c.4014C>T (p.Ile1338=) rs935329977 0.00001
NM_015425.6(POLR1A):c.4034+8C>G rs1042945473 0.00001
NM_015425.6(POLR1A):c.432+18G>A rs1157654233 0.00001
NM_015425.6(POLR1A):c.4557C>T (p.Thr1519=) rs746423557 0.00001
NM_015425.6(POLR1A):c.4780-14C>T rs1672320160 0.00001
NM_015425.6(POLR1A):c.4863C>T (p.Ile1621=) rs202201209 0.00001
NM_015425.6(POLR1A):c.5046G>A (p.Lys1682=) rs767106614 0.00001
NM_015425.6(POLR1A):c.5055C>T (p.Thr1685=) rs145409582 0.00001
NM_015425.6(POLR1A):c.519C>T (p.Leu173=) rs763877555 0.00001
NM_015425.6(POLR1A):c.630C>T (p.Thr210=) rs768431800 0.00001
NM_015425.6(POLR1A):c.727C>T (p.Leu243=) rs769345843 0.00001
NM_015425.6(POLR1A):c.730+13G>C rs751882786 0.00001
NM_015425.6(POLR1A):c.975G>A (p.Thr325=) rs368437581 0.00001
NM_015425.6(POLR1A):c.1038C>T (p.Ala346=)
NM_015425.6(POLR1A):c.1086+11C>T
NM_015425.6(POLR1A):c.1114C>A (p.Arg372=) rs752860605
NM_015425.6(POLR1A):c.1179C>T (p.Arg393=)
NM_015425.6(POLR1A):c.1248C>T (p.Gly416=) rs2104419638
NM_015425.6(POLR1A):c.1258-14T>C
NM_015425.6(POLR1A):c.1263G>A (p.Leu421=)
NM_015425.6(POLR1A):c.1281G>T (p.Leu427=)
NM_015425.6(POLR1A):c.1356C>T (p.Asn452=)
NM_015425.6(POLR1A):c.1362C>T (p.Asn454=)
NM_015425.6(POLR1A):c.1377C>T (p.Pro459=)
NM_015425.6(POLR1A):c.1380+20T>C
NM_015425.6(POLR1A):c.1380+2TG[18]
NM_015425.6(POLR1A):c.1381-9C>T
NM_015425.6(POLR1A):c.1398G>C (p.Leu466=)
NM_015425.6(POLR1A):c.1449G>A (p.Ala483=)
NM_015425.6(POLR1A):c.144C>T (p.Asn48=)
NM_015425.6(POLR1A):c.1458C>T (p.Asn486=)
NM_015425.6(POLR1A):c.1491C>T (p.Val497=)
NM_015425.6(POLR1A):c.1557C>T (p.Ala519=) rs1573824436
NM_015425.6(POLR1A):c.1587A>G (p.Ala529=)
NM_015425.6(POLR1A):c.1596C>T (p.Pro532=)
NM_015425.6(POLR1A):c.1611+11G>A
NM_015425.6(POLR1A):c.162T>C (p.Ala54=) rs1052077365
NM_015425.6(POLR1A):c.1867-19T>G rs2104408921
NM_015425.6(POLR1A):c.1879T>C (p.Leu627=)
NM_015425.6(POLR1A):c.1884G>A (p.Ala628=)
NM_015425.6(POLR1A):c.192C>T (p.Cys64=)
NM_015425.6(POLR1A):c.1986G>A (p.Thr662=)
NM_015425.6(POLR1A):c.2013T>C (p.Leu671=)
NM_015425.6(POLR1A):c.2058+19C>T
NM_015425.6(POLR1A):c.2059-8C>G
NM_015425.6(POLR1A):c.2067A>G (p.Ser689=) rs2104400166
NM_015425.6(POLR1A):c.2070G>C (p.Thr690=) rs545753325
NM_015425.6(POLR1A):c.2154G>A (p.Lys718=) rs1315578070
NM_015425.6(POLR1A):c.2164C>A (p.Arg722=)
NM_015425.6(POLR1A):c.2169C>T (p.Ser723=)
NM_015425.6(POLR1A):c.2187T>C (p.Pro729=)
NM_015425.6(POLR1A):c.2193G>A (p.Ser731=)
NM_015425.6(POLR1A):c.2205C>T (p.Ser735=)
NM_015425.6(POLR1A):c.2209-10C>T
NM_015425.6(POLR1A):c.2226G>A (p.Gly742=)
NM_015425.6(POLR1A):c.2238C>T (p.Cys746=)
NM_015425.6(POLR1A):c.2247G>A (p.Leu749=)
NM_015425.6(POLR1A):c.2256G>A (p.Ala752=)
NM_015425.6(POLR1A):c.2268C>T (p.Ser756=)
NM_015425.6(POLR1A):c.2271C>T (p.Ser757=)
NM_015425.6(POLR1A):c.2277C>T (p.Tyr759=)
NM_015425.6(POLR1A):c.2283G>T (p.Leu761=)
NM_015425.6(POLR1A):c.2313C>T (p.Gly771=)
NM_015425.6(POLR1A):c.2322C>T (p.Ser774=)
NM_015425.6(POLR1A):c.2352C>G (p.Leu784=)
NM_015425.6(POLR1A):c.2392+10G>A rs771794451
NM_015425.6(POLR1A):c.2392+12G>A
NM_015425.6(POLR1A):c.2392+13C>G rs142989159
NM_015425.6(POLR1A):c.2392+15C>A rs552233536
NM_015425.6(POLR1A):c.2392+15C>T rs552233536
NM_015425.6(POLR1A):c.2392+16G>A
NM_015425.6(POLR1A):c.2393-16C>T
NM_015425.6(POLR1A):c.2394C>T (p.Gly798=)
NM_015425.6(POLR1A):c.2476-6T>C
NM_015425.6(POLR1A):c.2487T>C (p.Ala829=)
NM_015425.6(POLR1A):c.2496C>T (p.Asn832=)
NM_015425.6(POLR1A):c.2497C>T (p.Leu833=)
NM_015425.6(POLR1A):c.2499G>A (p.Leu833=)
NM_015425.6(POLR1A):c.2565G>C (p.Gln855His)
NM_015425.6(POLR1A):c.2634+14del rs778490838
NM_015425.6(POLR1A):c.2694G>A (p.Val898=)
NM_015425.6(POLR1A):c.2700G>A (p.Ser900=)
NM_015425.6(POLR1A):c.2727G>A (p.Thr909=)
NM_015425.6(POLR1A):c.276C>G (p.Leu92=)
NM_015425.6(POLR1A):c.2970-16G>A
NM_015425.6(POLR1A):c.3000C>T (p.Val1000=)
NM_015425.6(POLR1A):c.3018G>A (p.Thr1006=)
NM_015425.6(POLR1A):c.3021C>T (p.Val1007=)
NM_015425.6(POLR1A):c.3033C>T (p.Asp1011=)
NM_015425.6(POLR1A):c.303G>T (p.Arg101=)
NM_015425.6(POLR1A):c.3045G>A (p.Val1015=)
NM_015425.6(POLR1A):c.3084G>A (p.Lys1028=)
NM_015425.6(POLR1A):c.3111C>T (p.Phe1037=)
NM_015425.6(POLR1A):c.3132C>T (p.Tyr1044=)
NM_015425.6(POLR1A):c.3136-14GTTT[2]
NM_015425.6(POLR1A):c.3136-18_3136-3dup rs1672649303
NM_015425.6(POLR1A):c.3136-18_3136-7del
NM_015425.6(POLR1A):c.3136-5T>C
NM_015425.6(POLR1A):c.3138G>T (p.Val1046=)
NM_015425.6(POLR1A):c.3204C>T (p.His1068=)
NM_015425.6(POLR1A):c.3261C>T (p.Gly1087=)
NM_015425.6(POLR1A):c.3279C>T (p.Ser1093=)
NM_015425.6(POLR1A):c.3318G>A (p.Glu1106=)
NM_015425.6(POLR1A):c.3333T>C (p.Asn1111=)
NM_015425.6(POLR1A):c.3357+16G>A
NM_015425.6(POLR1A):c.3358-15C>T
NM_015425.6(POLR1A):c.3358-19G>A
NM_015425.6(POLR1A):c.3378G>A (p.Glu1126=)
NM_015425.6(POLR1A):c.3399G>A (p.Arg1133=)
NM_015425.6(POLR1A):c.3456T>C (p.Pro1152=)
NM_015425.6(POLR1A):c.3480A>C (p.Ser1160=)
NM_015425.6(POLR1A):c.3492A>G (p.Glu1164=)
NM_015425.6(POLR1A):c.3573-12C>T
NM_015425.6(POLR1A):c.3573-15del
NM_015425.6(POLR1A):c.3573-16C>T
NM_015425.6(POLR1A):c.3573-17C>T
NM_015425.6(POLR1A):c.3573-8G>A
NM_015425.6(POLR1A):c.3573-9C>T
NM_015425.6(POLR1A):c.3591G>A (p.Gln1197=) rs775457939
NM_015425.6(POLR1A):c.3612G>C (p.Leu1204=)
NM_015425.6(POLR1A):c.3618G>A (p.Glu1206=)
NM_015425.6(POLR1A):c.3624C>T (p.Gly1208=)
NM_015425.6(POLR1A):c.3639G>A (p.Leu1213=)
NM_015425.6(POLR1A):c.363C>T (p.Leu121=) rs1673753663
NM_015425.6(POLR1A):c.3642G>C (p.Leu1214=)
NM_015425.6(POLR1A):c.3711C>A (p.Gly1237=)
NM_015425.6(POLR1A):c.3726C>T (p.Thr1242=)
NM_015425.6(POLR1A):c.3740+11C>T
NM_015425.6(POLR1A):c.3741-13T>C
NM_015425.6(POLR1A):c.3877-12G>A
NM_015425.6(POLR1A):c.3877-13C>T
NM_015425.6(POLR1A):c.3877-22CT[2]
NM_015425.6(POLR1A):c.3880T>C (p.Leu1294=)
NM_015425.6(POLR1A):c.3906C>T (p.Ser1302=)
NM_015425.6(POLR1A):c.3942G>T (p.Val1314=)
NM_015425.6(POLR1A):c.3975A>G (p.Ala1325=)
NM_015425.6(POLR1A):c.3996C>T (p.Cys1332=)
NM_015425.6(POLR1A):c.4015C>T (p.Leu1339=)
NM_015425.6(POLR1A):c.4035-10C>G
NM_015425.6(POLR1A):c.4035-7G>A
NM_015425.6(POLR1A):c.4035-7G>C
NM_015425.6(POLR1A):c.4044A>G (p.Lys1348=)
NM_015425.6(POLR1A):c.4047T>G (p.Leu1349=) rs758839454
NM_015425.6(POLR1A):c.408C>T (p.Tyr136=)
NM_015425.6(POLR1A):c.4095G>A (p.Arg1365=)
NM_015425.6(POLR1A):c.4147T>C (p.Leu1383=)
NM_015425.6(POLR1A):c.4161+14C>T
NM_015425.6(POLR1A):c.4161+15G>A
NM_015425.6(POLR1A):c.4161+17G>T
NM_015425.6(POLR1A):c.4161+19G>A
NM_015425.6(POLR1A):c.4161+19G>T
NM_015425.6(POLR1A):c.4161+20T>C
NM_015425.6(POLR1A):c.4162-11A>G rs1384603500
NM_015425.6(POLR1A):c.4162-13C>G
NM_015425.6(POLR1A):c.4194G>A (p.Gly1398=)
NM_015425.6(POLR1A):c.4239T>C (p.Ser1413=)
NM_015425.6(POLR1A):c.4272+12TG[2] rs544790618
NM_015425.6(POLR1A):c.4272+17G>A
NM_015425.6(POLR1A):c.4272+9C>A
NM_015425.6(POLR1A):c.4273-11T>G
NM_015425.6(POLR1A):c.4299G>A (p.Glu1433=)
NM_015425.6(POLR1A):c.429C>T (p.Asn143=)
NM_015425.6(POLR1A):c.432+15G>A
NM_015425.6(POLR1A):c.4320C>T (p.Asn1440=)
NM_015425.6(POLR1A):c.4326T>C (p.Asp1442=)
NM_015425.6(POLR1A):c.433-13C>T
NM_015425.6(POLR1A):c.433-9G>C
NM_015425.6(POLR1A):c.4344A>G (p.Glu1448=)
NM_015425.6(POLR1A):c.4365T>A (p.Gly1455=) rs1672389785
NM_015425.6(POLR1A):c.4401C>T (p.Gly1467=)
NM_015425.6(POLR1A):c.4413G>A (p.Glu1471=)
NM_015425.6(POLR1A):c.4422G>A (p.Pro1474=)
NM_015425.6(POLR1A):c.4464C>T (p.His1488=)
NM_015425.6(POLR1A):c.4485C>T (p.Pro1495=)
NM_015425.6(POLR1A):c.4530G>A (p.Pro1510=)
NM_015425.6(POLR1A):c.4551C>T (p.Tyr1517=)
NM_015425.6(POLR1A):c.4578+12C>T
NM_015425.6(POLR1A):c.4578+20C>A
NM_015425.6(POLR1A):c.4579-17T>C
NM_015425.6(POLR1A):c.4579-18C>T rs2104379442
NM_015425.6(POLR1A):c.4653C>T (p.Ala1551=)
NM_015425.6(POLR1A):c.4707C>T (p.Asn1569=)
NM_015425.6(POLR1A):c.4743A>G (p.Glu1581=) rs1672360044
NM_015425.6(POLR1A):c.4764A>G (p.Leu1588=)
NM_015425.6(POLR1A):c.4779+15C>G
NM_015425.6(POLR1A):c.4779+16_4779+19del
NM_015425.6(POLR1A):c.4779+17G>T
NM_015425.6(POLR1A):c.4780-10C>T
NM_015425.6(POLR1A):c.4780-16T>C
NM_015425.6(POLR1A):c.4780-8C>G
NM_015425.6(POLR1A):c.4788T>C (p.Asp1596=)
NM_015425.6(POLR1A):c.4797C>T (p.Arg1599=)
NM_015425.6(POLR1A):c.4803C>T (p.Tyr1601=)
NM_015425.6(POLR1A):c.4809C>T (p.Asn1603=)
NM_015425.6(POLR1A):c.4818C>T (p.His1606=)
NM_015425.6(POLR1A):c.4860G>T (p.Val1620=)
NM_015425.6(POLR1A):c.4875C>T (p.Ile1625=)
NM_015425.6(POLR1A):c.4897+11C>T
NM_015425.6(POLR1A):c.4897+17G>A
NM_015425.6(POLR1A):c.4897+7G>A
NM_015425.6(POLR1A):c.4898-10C>T
NM_015425.6(POLR1A):c.4898-9G>A
NM_015425.6(POLR1A):c.4902C>T (p.Ile1634=)
NM_015425.6(POLR1A):c.4947C>T (p.Cys1649=) rs1458997458
NM_015425.6(POLR1A):c.495A>G (p.Thr165=)
NM_015425.6(POLR1A):c.498T>C (p.Thr166=) rs2104429024
NM_015425.6(POLR1A):c.5001C>G (p.Ser1667=)
NM_015425.6(POLR1A):c.5062+14C>A
NM_015425.6(POLR1A):c.5062+8C>T
NM_015425.6(POLR1A):c.5063-5G>A
NM_015425.6(POLR1A):c.5063-6T>C
NM_015425.6(POLR1A):c.5070C>T (p.His1690=)
NM_015425.6(POLR1A):c.5124C>G (p.Gly1708=)
NM_015425.6(POLR1A):c.5139C>T (p.Phe1713=)
NM_015425.6(POLR1A):c.513C>T (p.Asn171=)
NM_015425.6(POLR1A):c.540+11A>T
NM_015425.6(POLR1A):c.540+14G>A
NM_015425.6(POLR1A):c.540+14G>C
NM_015425.6(POLR1A):c.541-11T>A
NM_015425.6(POLR1A):c.541-20_541-17del
NM_015425.6(POLR1A):c.549C>T (p.Asn183=) rs754582129
NM_015425.6(POLR1A):c.552G>T (p.Val184=)
NM_015425.6(POLR1A):c.585C>T (p.Phe195=) rs2104428190
NM_015425.6(POLR1A):c.594A>G (p.Ala198=) rs760022156
NM_015425.6(POLR1A):c.626+13del
NM_015425.6(POLR1A):c.626+16C>T
NM_015425.6(POLR1A):c.626+20C>A rs753399815
NM_015425.6(POLR1A):c.627-15T>C rs773070807
NM_015425.6(POLR1A):c.627-9_627-7del
NM_015425.6(POLR1A):c.639C>G (p.Ser213=)
NM_015425.6(POLR1A):c.645C>T (p.Val215=)
NM_015425.6(POLR1A):c.731-12_731-10del rs767099397
NM_015425.6(POLR1A):c.731-18del
NM_015425.6(POLR1A):c.765C>T (p.Tyr255=)
NM_015425.6(POLR1A):c.77+11G>C
NM_015425.6(POLR1A):c.77+11G>T
NM_015425.6(POLR1A):c.77+18T>A
NM_015425.6(POLR1A):c.78-4T>G
NM_015425.6(POLR1A):c.818-4G>A
NM_015425.6(POLR1A):c.818-5C>T
NM_015425.6(POLR1A):c.818-9C>T rs756199202
NM_015425.6(POLR1A):c.891C>T (p.Phe297=)
NM_015425.6(POLR1A):c.924-10C>A
NM_015425.6(POLR1A):c.924-14A>G rs1573828073
NM_015425.6(POLR1A):c.924-16G>A rs763362405
NM_015425.6(POLR1A):c.924-16G>T
NM_015425.6(POLR1A):c.924-17C>T
NM_015425.6(POLR1A):c.951C>T (p.Asp317=)
NM_015425.6(POLR1A):c.978G>A (p.Val326=)

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.