ClinVar Miner

List of variants in gene IARS2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 462
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.220093910del rs57957113 0.46897
NM_018060.4(IARS2):c.950+214A>G rs2789789 0.46839
NM_018060.4(IARS2):c.551-93G>A rs2789788 0.46818
NM_018060.4(IARS2):c.2415-200G>A rs10442693 0.39786
NM_018060.4(IARS2):c.391-268T>G rs2289190 0.26063
NM_018060.4(IARS2):c.2414+222G>A rs3738337 0.25164
NC_000001.11:g.220093908A>T rs58943245 0.16032
NM_018060.4(IARS2):c.*46A>G rs11095 0.14776
NM_018060.4(IARS2):c.2896+115A>G rs3738336 0.14546
NM_018060.4(IARS2):c.950+185C>T rs17563518 0.14442
NM_018060.4(IARS2):c.1946+258G>T rs201023394 0.14440
NM_018060.4(IARS2):c.551-297C>G rs60531981 0.14074
NM_018060.4(IARS2):c.2897-294A>G rs59914129 0.13248
NM_018060.4(IARS2):c.1480-195C>T rs73096599 0.12604
NC_000001.11:g.220093910_220093912del rs570325367 0.09853
NM_018060.4(IARS2):c.2414+84A>G rs141385141 0.09093
NM_018060.4(IARS2):c.2896+306T>G rs11806086 0.08585
NM_018060.4(IARS2):c.2896+12A>G rs75519000 0.07588
NM_018060.4(IARS2):c.268-7A>T rs78836180 0.07149
NM_018060.4(IARS2):c.390+232C>T rs78887187 0.06873
NM_018060.4(IARS2):c.1480-306C>T rs75886035 0.06854
NC_000001.11:g.220093912del rs1193637553 0.06236
NM_018060.4(IARS2):c.1838-68A>G rs35775533 0.05821
NM_018060.4(IARS2):c.551-301G>A rs142081039 0.05347
NM_018060.4(IARS2):c.1744-57T>C rs2289191 0.05337
NM_018060.4(IARS2):c.2049+94A>C rs74902866 0.05335
NM_018060.4(IARS2):c.2752-329T>C rs75657857 0.05219
NM_018060.4(IARS2):c.1066+191T>G rs58256586 0.05084
NM_018060.4(IARS2):c.1726A>G (p.Lys576Glu) rs78770848 0.03301
NM_018060.4(IARS2):c.2415-169C>T rs146345863 0.01905
NM_018060.4(IARS2):c.950+231G>A rs11807333 0.01179
NM_018060.4(IARS2):c.2897-212C>T rs116319760 0.01157
NM_018060.4(IARS2):c.1564A>G (p.Ile522Val) rs11800305 0.01131
NC_000001.11:g.220093912T>A rs1396427718 0.01032
NC_000001.11:g.220093906A>T rs200566584 0.00808
NM_018060.4(IARS2):c.1640+98G>A rs116058576 0.00728
NM_018060.4(IARS2):c.2896+161G>A rs113797562 0.00728
NM_018060.4(IARS2):c.551-305C>T rs181411611 0.00714
NM_018060.4(IARS2):c.2176-289A>C rs112494903 0.00709
NM_018060.4(IARS2):c.391-113G>T rs112076704 0.00600
NM_018060.4(IARS2):c.1237-214G>A rs147301079 0.00592
NM_018060.4(IARS2):c.2307+152G>T rs142485308 0.00475
NM_018060.4(IARS2):c.1479+112T>C rs112492379 0.00472
NM_018060.4(IARS2):c.2176-47G>A rs114389757 0.00448
NM_018060.4(IARS2):c.2896+114C>T rs140873288 0.00444
NM_018060.4(IARS2):c.2752-87C>T rs143527396 0.00388
NM_018060.4(IARS2):c.1067-295A>G rs143213917 0.00380
NM_018060.4(IARS2):c.1067-263T>C rs148305375 0.00323
NM_018060.4(IARS2):c.942T>C (p.Pro314=) rs148564492 0.00307
NM_018060.4(IARS2):c.1164G>A (p.Thr388=) rs143373097 0.00282
NM_018060.4(IARS2):c.700-11G>C rs182226161 0.00276
NM_018060.4(IARS2):c.2897-15T>C rs191806652 0.00228
NM_018060.4(IARS2):c.2050-78G>T rs143710515 0.00226
NM_018060.4(IARS2):c.390+7A>G rs35204279 0.00185
NM_018060.4(IARS2):c.1837+27G>A rs146891512 0.00144
NM_018060.4(IARS2):c.3019G>C (p.Glu1007Gln) rs141564642 0.00141
NM_018060.4(IARS2):c.390+10A>G rs201829262 0.00096
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys) rs143722284 0.00089
NM_018060.4(IARS2):c.1057A>T (p.Thr353Ser) rs141215374 0.00083
NM_018060.4(IARS2):c.951G>A (p.Lys317=) rs146236436 0.00074
NM_018060.4(IARS2):c.2691T>C (p.Asn897=) rs147694424 0.00065
NM_018060.4(IARS2):c.1016C>T (p.Ser339Phe) rs139437119 0.00061
NM_018060.4(IARS2):c.479T>C (p.Ile160Thr) rs149036509 0.00057
NM_018060.4(IARS2):c.268-8T>A rs201594568 0.00038
NM_018060.4(IARS2):c.2073T>C (p.Tyr691=) rs141475516 0.00035
NM_018060.4(IARS2):c.1743+13T>C rs115212411 0.00029
NM_018060.4(IARS2):c.2307+14A>G rs201438337 0.00029
NM_018060.4(IARS2):c.267+5G>C rs117860947 0.00020
NM_018060.4(IARS2):c.990C>T (p.Tyr330=) rs377623873 0.00020
NM_018060.4(IARS2):c.137C>T (p.Ser46Phe) rs772530946 0.00017
NM_018060.4(IARS2):c.2103T>C (p.Ala701=) rs760335851 0.00016
NM_018060.4(IARS2):c.741G>A (p.Pro247=) rs199601961 0.00014
NM_018060.4(IARS2):c.1689T>C (p.Asp563=) rs199819720 0.00013
NM_018060.4(IARS2):c.2014G>A (p.Val672Ile) rs368264345 0.00013
NM_018060.4(IARS2):c.515C>G (p.Ala172Gly) rs141275528 0.00013
NM_018060.4(IARS2):c.1328-18G>T rs551635063 0.00012
NM_018060.4(IARS2):c.2029G>A (p.Val677Ile) rs542365502 0.00011
NM_018060.4(IARS2):c.1943A>G (p.Tyr648Cys) rs142067804 0.00010
NM_018060.4(IARS2):c.2360G>A (p.Arg787Gln) rs189118525 0.00010
NM_018060.4(IARS2):c.700-8T>C rs187251505 0.00010
NM_018060.4(IARS2):c.2238C>T (p.Ser746=) rs1441129862 0.00008
NM_018060.4(IARS2):c.267+10C>G rs779404016 0.00008
NM_018060.4(IARS2):c.2949G>A (p.Thr983=) rs149528664 0.00008
NM_018060.4(IARS2):c.2128G>A (p.Ala710Thr) rs187895132 0.00007
NM_018060.4(IARS2):c.228G>C (p.Leu76=) rs764004253 0.00007
NM_018060.4(IARS2):c.636C>T (p.Tyr212=) rs141996928 0.00007
NM_018060.4(IARS2):c.1285G>C (p.Glu429Gln) rs750212035 0.00006
NM_018060.4(IARS2):c.1946+16T>C rs370439841 0.00006
NM_018060.4(IARS2):c.2575T>C (p.Phe859Leu) rs199840959 0.00006
NM_018060.4(IARS2):c.2781C>T (p.Thr927=) rs765803697 0.00006
NM_018060.4(IARS2):c.2562G>C (p.Glu854Asp) rs368357452 0.00005
NM_018060.4(IARS2):c.749+17C>T rs372618006 0.00005
NM_018060.4(IARS2):c.800G>A (p.Arg267His) rs377432411 0.00005
NM_018060.4(IARS2):c.1160G>T (p.Gly387Val) rs748379506 0.00004
NM_018060.4(IARS2):c.1207G>A (p.Gly403Ser) rs201122237 0.00004
NM_018060.4(IARS2):c.1237-5T>C rs375005263 0.00004
NM_018060.4(IARS2):c.2027A>G (p.Asp676Gly) rs771124236 0.00004
NM_018060.4(IARS2):c.2312C>G (p.Thr771Ser) rs139473192 0.00004
NM_018060.4(IARS2):c.2316A>G (p.Glu772=) rs377178843 0.00004
NM_018060.4(IARS2):c.2620G>A (p.Gly874Arg) rs151241066 0.00004
NM_018060.4(IARS2):c.2804T>C (p.Met935Thr) rs777760234 0.00004
NM_018060.4(IARS2):c.2909G>A (p.Arg970His) rs1265051146 0.00004
NM_018060.4(IARS2):c.555A>T (p.Arg185Ser) rs201046842 0.00004
NM_018060.4(IARS2):c.749G>C (p.Arg250Thr) rs199575981 0.00004
NM_018060.4(IARS2):c.1151T>C (p.Met384Thr) rs182541053 0.00003
NM_018060.4(IARS2):c.1770T>C (p.Tyr590=) rs768336894 0.00003
NM_018060.4(IARS2):c.1809C>T (p.Ser603=) rs201363755 0.00003
NM_018060.4(IARS2):c.1885G>A (p.Gly629Arg) rs754840461 0.00003
NM_018060.4(IARS2):c.2192G>A (p.Arg731His) rs376310850 0.00003
NM_018060.4(IARS2):c.225G>T (p.Leu75=) rs758523600 0.00003
NM_018060.4(IARS2):c.2307+6T>C rs200946043 0.00003
NM_018060.4(IARS2):c.2646G>A (p.Ala882=) rs748375248 0.00003
NM_018060.4(IARS2):c.453C>T (p.Pro151=) rs756654341 0.00003
NM_018060.4(IARS2):c.557C>T (p.Ser186Leu) rs561155210 0.00003
NM_018060.4(IARS2):c.2131A>G (p.Ile711Val) rs376499862 0.00002
NM_018060.4(IARS2):c.2648G>A (p.Cys883Tyr) rs1183112010 0.00002
NM_018060.4(IARS2):c.267+14C>G rs749018477 0.00002
NM_018060.4(IARS2):c.2752-16A>T rs776403762 0.00002
NM_018060.4(IARS2):c.554G>A (p.Arg185Lys) rs779751372 0.00002
NM_018060.4(IARS2):c.740C>T (p.Pro247Leu) rs780062054 0.00002
NM_018060.4(IARS2):c.1027A>G (p.Thr343Ala) rs371011410 0.00001
NM_018060.4(IARS2):c.1066+16T>C rs768799338 0.00001
NM_018060.4(IARS2):c.1163C>T (p.Thr388Met) rs373578830 0.00001
NM_018060.4(IARS2):c.1226A>G (p.Asn409Ser) rs758566597 0.00001
NM_018060.4(IARS2):c.1292A>G (p.Gln431Arg) rs200536496 0.00001
NM_018060.4(IARS2):c.1327+6C>T rs374022663 0.00001
NM_018060.4(IARS2):c.1475C>T (p.Ala492Val) rs373126130 0.00001
NM_018060.4(IARS2):c.1488A>T (p.Leu496Phe) rs1420840874 0.00001
NM_018060.4(IARS2):c.1546A>G (p.Arg516Gly) rs1354258973 0.00001
NM_018060.4(IARS2):c.1549C>T (p.Arg517Trp) rs759787338 0.00001
NM_018060.4(IARS2):c.1551G>A (p.Arg517=) rs1013993041 0.00001
NM_018060.4(IARS2):c.1554A>T (p.Pro518=) rs775197017 0.00001
NM_018060.4(IARS2):c.1620G>T (p.Lys540Asn) rs758999402 0.00001
NM_018060.4(IARS2):c.1640+7T>C rs1236847573 0.00001
NM_018060.4(IARS2):c.1759G>A (p.Ala587Thr) rs779672275 0.00001
NM_018060.4(IARS2):c.1837+12A>G rs751847428 0.00001
NM_018060.4(IARS2):c.1837+17G>C rs762061585 0.00001
NM_018060.4(IARS2):c.2017A>G (p.Ile673Val) rs777839264 0.00001
NM_018060.4(IARS2):c.2049+4G>A rs763579713 0.00001
NM_018060.4(IARS2):c.2369A>G (p.Tyr790Cys) rs1448927304 0.00001
NM_018060.4(IARS2):c.2414+17A>G rs554889503 0.00001
NM_018060.4(IARS2):c.2543A>G (p.His848Arg) rs1228120833 0.00001
NM_018060.4(IARS2):c.2571T>C (p.Ser857=) rs1396112470 0.00001
NM_018060.4(IARS2):c.2669T>G (p.Leu890Arg) rs1409898715 0.00001
NM_018060.4(IARS2):c.267+8C>A rs755614129 0.00001
NM_018060.4(IARS2):c.2702A>G (p.Tyr901Cys) rs1571865543 0.00001
NM_018060.4(IARS2):c.2738T>C (p.Phe913Ser) rs1289191754 0.00001
NM_018060.4(IARS2):c.2752A>G (p.Met918Val) rs762550728 0.00001
NM_018060.4(IARS2):c.2832G>C (p.Gln944His) rs1295947451 0.00001
NM_018060.4(IARS2):c.286C>G (p.Leu96Val) rs1269625252 0.00001
NM_018060.4(IARS2):c.2888A>G (p.Asn963Ser) rs749589295 0.00001
NM_018060.4(IARS2):c.2915A>G (p.Glu972Gly) rs749306919 0.00001
NM_018060.4(IARS2):c.2943G>A (p.Pro981=) rs760174834 0.00001
NM_018060.4(IARS2):c.2976G>A (p.Lys992=) rs143192468 0.00001
NM_018060.4(IARS2):c.2984C>T (p.Ala995Val) rs779950037 0.00001
NM_018060.4(IARS2):c.550+10C>T rs763779261 0.00001
NM_018060.4(IARS2):c.551-15T>C rs751212940 0.00001
NM_018060.4(IARS2):c.999G>A (p.Ala333=) rs577342087 0.00001
NC_000001.10:g.(?_220267559)_(220269588_?)del
NC_000001.10:g.(?_220307724)_(220307872_?)del
NC_000001.10:g.(?_220320815)_(220320977_?)del
NC_000001.11:g.220093907_220093909del rs374211356
NC_000001.11:g.220093907_220093911del rs1475839154
NC_000001.11:g.220093908_220093909del rs374211356
NC_000001.11:g.220093908_220093911del rs1450097145
NC_000001.11:g.220093909AT[8] rs869306837
NC_000001.11:g.220093909_220093910insATATA
NC_000001.11:g.220093909_220093911del rs774844700
NC_000001.11:g.220093909del rs374211356
NM_018060.4(IARS2):c.1013C>T (p.Ala338Val)
NM_018060.4(IARS2):c.1038A>G (p.Thr346=) rs1571845860
NM_018060.4(IARS2):c.1043T>G (p.Phe348Cys) rs2102819226
NM_018060.4(IARS2):c.1057A>G (p.Thr353Ala)
NM_018060.4(IARS2):c.1067-18G>A
NM_018060.4(IARS2):c.1067-7C>T
NM_018060.4(IARS2):c.1088C>T (p.Thr363Ile)
NM_018060.4(IARS2):c.1093A>G (p.Ser365Gly) rs373657129
NM_018060.4(IARS2):c.1096C>T (p.His366Tyr)
NM_018060.4(IARS2):c.1128T>G (p.Leu376=)
NM_018060.4(IARS2):c.1161A>G (p.Gly387=)
NM_018060.4(IARS2):c.1214C>T (p.Ala405Val)
NM_018060.4(IARS2):c.1215G>A (p.Ala405=) rs138462058
NM_018060.4(IARS2):c.1215G>T (p.Ala405=)
NM_018060.4(IARS2):c.1237-11A>G
NM_018060.4(IARS2):c.1237-4A>G
NM_018060.4(IARS2):c.1248G>A (p.Val416=)
NM_018060.4(IARS2):c.1251C>T (p.Asp417=)
NM_018060.4(IARS2):c.1253A>C (p.Glu418Ala)
NM_018060.4(IARS2):c.1256A>G (p.Asp419Gly) rs765057802
NM_018060.4(IARS2):c.1305C>T (p.Val435=)
NM_018060.4(IARS2):c.1314G>A (p.Glu438=)
NM_018060.4(IARS2):c.1327+7A>G
NM_018060.4(IARS2):c.1328-14T>G rs770248468
NM_018060.4(IARS2):c.1328-14_1328-13insG
NM_018060.4(IARS2):c.1328-15T>G
NM_018060.4(IARS2):c.1328-16G>A
NM_018060.4(IARS2):c.1328-198A>T rs191487401
NM_018060.4(IARS2):c.1328-5del rs199649609
NM_018060.4(IARS2):c.1328-5dup rs199649609
NM_018060.4(IARS2):c.1328-6_1328-5dup
NM_018060.4(IARS2):c.1335G>A (p.Lys445=)
NM_018060.4(IARS2):c.1338G>A (p.Met446Ile)
NM_018060.4(IARS2):c.1342C>T (p.Gln448Ter) rs1287308680
NM_018060.4(IARS2):c.1345A>G (p.Thr449Ala) rs2102822923
NM_018060.4(IARS2):c.1378G>T (p.Val460Leu)
NM_018060.4(IARS2):c.1380G>A (p.Val460=)
NM_018060.4(IARS2):c.1392G>A (p.Pro464=)
NM_018060.4(IARS2):c.1404G>A (p.Arg468=)
NM_018060.4(IARS2):c.1426C>T (p.Arg476Cys)
NM_018060.4(IARS2):c.142G>C (p.Ala48Pro)
NM_018060.4(IARS2):c.1431C>T (p.Ala477=)
NM_018060.4(IARS2):c.1457C>T (p.Thr486Met)
NM_018060.4(IARS2):c.1458G>A (p.Thr486=)
NM_018060.4(IARS2):c.1480-16T>C
NM_018060.4(IARS2):c.1506T>C (p.Ile502=) rs573807289
NM_018060.4(IARS2):c.1509T>C (p.Pro503=)
NM_018060.4(IARS2):c.1530G>A (p.Met510Ile)
NM_018060.4(IARS2):c.157C>T (p.Pro53Ser)
NM_018060.4(IARS2):c.1635C>A (p.Ile545=)
NM_018060.4(IARS2):c.1640+14T>A
NM_018060.4(IARS2):c.1640+18dup
NM_018060.4(IARS2):c.1640+19T>G
NM_018060.4(IARS2):c.1641-10C>G
NM_018060.4(IARS2):c.1641-12C>T
NM_018060.4(IARS2):c.1641-13C>T
NM_018060.4(IARS2):c.1641-14C>T
NM_018060.4(IARS2):c.1641-3T>C
NM_018060.4(IARS2):c.1641-8del
NM_018060.4(IARS2):c.1641-9C>G
NM_018060.4(IARS2):c.1641-9dup rs1425274409
NM_018060.4(IARS2):c.1646C>T (p.Thr549Ile)
NM_018060.4(IARS2):c.1680C>T (p.His560=)
NM_018060.4(IARS2):c.1691T>C (p.Ile564Thr)
NM_018060.4(IARS2):c.1707C>T (p.Pro569=)
NM_018060.4(IARS2):c.1708C>G (p.Pro570Ala)
NM_018060.4(IARS2):c.1713A>G (p.Glu571=)
NM_018060.4(IARS2):c.1722T>A (p.Leu574=) rs777773993
NM_018060.4(IARS2):c.1739C>G (p.Ser580Cys)
NM_018060.4(IARS2):c.1743+9C>T
NM_018060.4(IARS2):c.1753C>T (p.Pro585Ser)
NM_018060.4(IARS2):c.1771G>A (p.Val591Met)
NM_018060.4(IARS2):c.1774_1777del (p.Pro592fs) rs2102832737
NM_018060.4(IARS2):c.1780C>G (p.Gln594Glu)
NM_018060.4(IARS2):c.1790T>C (p.Leu597Ser)
NM_018060.4(IARS2):c.1794C>T (p.Asp598=)
NM_018060.4(IARS2):c.1799G>C (p.Trp600Ser)
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter) rs373436822
NM_018060.4(IARS2):c.1827T>C (p.Tyr609=)
NM_018060.4(IARS2):c.1837+15T>C
NM_018060.4(IARS2):c.1838-13A>T
NM_018060.4(IARS2):c.1884C>T (p.Leu628=) rs142865520
NM_018060.4(IARS2):c.1886G>C (p.Gly629Ala)
NM_018060.4(IARS2):c.189G>A (p.Thr63=)
NM_018060.4(IARS2):c.1904C>T (p.Ser635Phe)
NM_018060.4(IARS2):c.1929G>A (p.Arg643=)
NM_018060.4(IARS2):c.1942_1945dup (p.Lys649delinsIleTer) rs2102837157
NM_018060.4(IARS2):c.1943A>C (p.Tyr648Ser) rs142067804
NM_018060.4(IARS2):c.1946+15C>T
NM_018060.4(IARS2):c.1946+275del rs57598038
NM_018060.4(IARS2):c.1946+287G>T rs45454400
NM_018060.4(IARS2):c.1947-12T>C
NM_018060.4(IARS2):c.1947-20T>A
NM_018060.4(IARS2):c.1947-351G>C rs73098527
NM_018060.4(IARS2):c.1973T>G (p.Leu658Arg)
NM_018060.4(IARS2):c.1975G>C (p.Gly659Arg)
NM_018060.4(IARS2):c.1999A>G (p.Lys667Glu)
NM_018060.4(IARS2):c.2035G>A (p.Val679Ile)
NM_018060.4(IARS2):c.2037T>G (p.Val679=)
NM_018060.4(IARS2):c.2040T>C (p.Asn680=)
NM_018060.4(IARS2):c.2045G>A (p.Gly682Glu)
NM_018060.4(IARS2):c.2050-11T>C
NM_018060.4(IARS2):c.2050-15T>C
NM_018060.4(IARS2):c.2050-18T>C
NM_018060.4(IARS2):c.2062G>T (p.Glu688Ter) rs2102839341
NM_018060.4(IARS2):c.2070G>A (p.Pro690=)
NM_018060.4(IARS2):c.208A>G (p.Ser70Gly)
NM_018060.4(IARS2):c.2099T>C (p.Val700Ala)
NM_018060.4(IARS2):c.2102C>T (p.Ala701Val)
NM_018060.4(IARS2):c.2111A>G (p.Asn704Ser) rs138738853
NM_018060.4(IARS2):c.2111A>T (p.Asn704Ile) rs138738853
NM_018060.4(IARS2):c.2142C>T (p.Ser714=)
NM_018060.4(IARS2):c.2163T>C (p.Asp721=)
NM_018060.4(IARS2):c.216C>T (p.Pro72=)
NM_018060.4(IARS2):c.2171G>A (p.Ser724Asn)
NM_018060.4(IARS2):c.2175+18T>C
NM_018060.4(IARS2):c.2175+1G>A rs1057520702
NM_018060.4(IARS2):c.2175+4A>C
NM_018060.4(IARS2):c.2176-13T>C
NM_018060.4(IARS2):c.2178T>C (p.Leu726=)
NM_018060.4(IARS2):c.2191C>T (p.Arg731Cys)
NM_018060.4(IARS2):c.2201T>C (p.Leu734Ser)
NM_018060.4(IARS2):c.221A>G (p.Lys74Arg)
NM_018060.4(IARS2):c.2222A>G (p.Asn741Ser)
NM_018060.4(IARS2):c.222G>A (p.Lys74=)
NM_018060.4(IARS2):c.2237C>G (p.Ser746Cys)
NM_018060.4(IARS2):c.2247A>C (p.Val749=)
NM_018060.4(IARS2):c.2251G>A (p.Asp751Asn)
NM_018060.4(IARS2):c.225G>A (p.Leu75=)
NM_018060.4(IARS2):c.2266G>C (p.Asp756His) rs2102840131
NM_018060.4(IARS2):c.2269C>G (p.Gln757Glu)
NM_018060.4(IARS2):c.2307+20C>A rs2102840190
NM_018060.4(IARS2):c.2307+8T>C
NM_018060.4(IARS2):c.2307+9A>G
NM_018060.4(IARS2):c.2308-16T>C
NM_018060.4(IARS2):c.2313C>T (p.Thr771=)
NM_018060.4(IARS2):c.2334T>C (p.Asp778=)
NM_018060.4(IARS2):c.2342A>G (p.Lys781Arg)
NM_018060.4(IARS2):c.2350C>T (p.Arg784Trp)
NM_018060.4(IARS2):c.2359C>A (p.Arg787=)
NM_018060.4(IARS2):c.2359C>T (p.Arg787Trp)
NM_018060.4(IARS2):c.2364G>A (p.Thr788=)
NM_018060.4(IARS2):c.2414+185G>A rs113142024
NM_018060.4(IARS2):c.2418C>G (p.Leu806=)
NM_018060.4(IARS2):c.2441C>A (p.Pro814His) rs750326380
NM_018060.4(IARS2):c.2442C>T (p.Pro814=)
NM_018060.4(IARS2):c.2446C>T (p.Arg816Ter)
NM_018060.4(IARS2):c.2450G>T (p.Arg817Leu) rs146618526
NM_018060.4(IARS2):c.2457T>C (p.Cys819=)
NM_018060.4(IARS2):c.2466A>C (p.Ala822=)
NM_018060.4(IARS2):c.2483A>T (p.Asp828Val)
NM_018060.4(IARS2):c.2488A>G (p.Ile830Val)
NM_018060.4(IARS2):c.2494C>A (p.Arg832Ser) rs2102841738
NM_018060.4(IARS2):c.2554A>G (p.Ile852Val)
NM_018060.4(IARS2):c.2555T>C (p.Ile852Thr)
NM_018060.4(IARS2):c.2556T>A (p.Ile852=)
NM_018060.4(IARS2):c.2560+15A>C
NM_018060.4(IARS2):c.2560+7A>C
NM_018060.4(IARS2):c.2561-7T>C
NM_018060.4(IARS2):c.2566A>T (p.Lys856Ter)
NM_018060.4(IARS2):c.2578C>T (p.Arg860Cys)
NM_018060.4(IARS2):c.2579G>A (p.Arg860His)
NM_018060.4(IARS2):c.2619C>T (p.Pro873=)
NM_018060.4(IARS2):c.2630A>G (p.Glu877Gly)
NM_018060.4(IARS2):c.2632G>A (p.Ala878Thr)
NM_018060.4(IARS2):c.2645C>T (p.Ala882Val)
NM_018060.4(IARS2):c.267+2T>A rs2102814284
NM_018060.4(IARS2):c.268-12_268-8del
NM_018060.4(IARS2):c.268-4del rs202120344
NM_018060.4(IARS2):c.268-8del rs376359534
NM_018060.4(IARS2):c.268-8dup rs376359534
NM_018060.4(IARS2):c.268-9_268-8del
NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu) rs587783070
NM_018060.4(IARS2):c.2739T>G (p.Phe913Leu) rs2102842496
NM_018060.4(IARS2):c.2751+14T>C
NM_018060.4(IARS2):c.2751+3A>G
NM_018060.4(IARS2):c.2752-11C>G
NM_018060.4(IARS2):c.2752-269G>C rs144303641
NM_018060.4(IARS2):c.2752-9T>C
NM_018060.4(IARS2):c.275G>A (p.Gly92Glu)
NM_018060.4(IARS2):c.2766A>G (p.Glu922=)
NM_018060.4(IARS2):c.2767G>A (p.Glu923Lys)
NM_018060.4(IARS2):c.2775C>T (p.Ser925=)
NM_018060.4(IARS2):c.2775del (p.Ser926fs)
NM_018060.4(IARS2):c.2776A>G (p.Ser926Gly)
NM_018060.4(IARS2):c.2792A>G (p.Asn931Ser)
NM_018060.4(IARS2):c.2806G>A (p.Ala936Thr) rs2102843852
NM_018060.4(IARS2):c.2806G>T (p.Ala936Ser)
NM_018060.4(IARS2):c.2810C>G (p.Ser937Cys)
NM_018060.4(IARS2):c.2811T>C (p.Ser937=)
NM_018060.4(IARS2):c.2832G>A (p.Gln944=) rs1295947451
NM_018060.4(IARS2):c.2840G>A (p.Arg947Gln)
NM_018060.4(IARS2):c.2848A>C (p.Thr950Pro) rs1657570498
NM_018060.4(IARS2):c.2862C>A (p.Ile954=)
NM_018060.4(IARS2):c.2862C>T (p.Ile954=)
NM_018060.4(IARS2):c.2865G>C (p.Glu955Asp)
NM_018060.4(IARS2):c.2883C>T (p.Leu961=)
NM_018060.4(IARS2):c.288T>G (p.Leu96=)
NM_018060.4(IARS2):c.288_289del (p.Tyr97fs)
NM_018060.4(IARS2):c.2896+11G>A
NM_018060.4(IARS2):c.2896+17A>C
NM_018060.4(IARS2):c.2896+6_2896+8del
NM_018060.4(IARS2):c.2897-11T>A
NM_018060.4(IARS2):c.2897-16A>G
NM_018060.4(IARS2):c.2897-18T>G
NM_018060.4(IARS2):c.2897-20C>G
NM_018060.4(IARS2):c.2897-20C>T
NM_018060.4(IARS2):c.2897-4A>G
NM_018060.4(IARS2):c.2897-5T>A
NM_018060.4(IARS2):c.2897-5dup rs781485617
NM_018060.4(IARS2):c.289T>C (p.Tyr97His)
NM_018060.4(IARS2):c.2906T>C (p.Ile969Thr) rs2102845383
NM_018060.4(IARS2):c.2928A>G (p.Lys976=)
NM_018060.4(IARS2):c.2934T>C (p.Ile978=)
NM_018060.4(IARS2):c.2951A>C (p.Lys984Thr) rs752016185
NM_018060.4(IARS2):c.2952_2958dup (p.Cys987fs) rs1553272319
NM_018060.4(IARS2):c.2964C>T (p.Pro988=)
NM_018060.4(IARS2):c.2965C>G (p.Arg989Gly)
NM_018060.4(IARS2):c.2977T>C (p.Tyr993His)
NM_018060.4(IARS2):c.2980A>G (p.Thr994Ala)
NM_018060.4(IARS2):c.2985G>A (p.Ala995=)
NM_018060.4(IARS2):c.3010C>T (p.Arg1004Ter)
NM_018060.4(IARS2):c.3017C>T (p.Ala1006Val)
NM_018060.4(IARS2):c.3028A>G (p.Ser1010Gly) rs2102845506
NM_018060.4(IARS2):c.3036dup (p.Ter1013IleextTer?) rs770785731
NM_018060.4(IARS2):c.314_318del (p.Val105fs)
NM_018060.4(IARS2):c.324A>G (p.Glu108=)
NM_018060.4(IARS2):c.351T>G (p.Tyr117Ter) rs897456214
NM_018060.4(IARS2):c.353C>T (p.Ala118Val)
NM_018060.4(IARS2):c.369T>C (p.His123=)
NM_018060.4(IARS2):c.372T>A (p.Val124=)
NM_018060.4(IARS2):c.390+14A>G
NM_018060.4(IARS2):c.390G>A (p.Lys130=)
NM_018060.4(IARS2):c.391-17T>C
NM_018060.4(IARS2):c.391-5T>C rs2102817615
NM_018060.4(IARS2):c.406G>A (p.Ala136Thr) rs2102817625
NM_018060.4(IARS2):c.417C>G (p.Phe139Leu) rs1263416901
NM_018060.4(IARS2):c.419del (p.His140fs)
NM_018060.4(IARS2):c.435C>T (p.Ser145=)
NM_018060.4(IARS2):c.454G>A (p.Gly152Ser)
NM_018060.4(IARS2):c.526T>G (p.Ser176Ala) rs1370909726
NM_018060.4(IARS2):c.527C>T (p.Ser176Leu)
NM_018060.4(IARS2):c.537A>C (p.Glu179Asp)
NM_018060.4(IARS2):c.547_550del (p.Lys183fs)
NM_018060.4(IARS2):c.550+11T>G
NM_018060.4(IARS2):c.550+13T>C
NM_018060.4(IARS2):c.550+20G>C
NM_018060.4(IARS2):c.550+6T>A
NM_018060.4(IARS2):c.551-14C>T
NM_018060.4(IARS2):c.551-16T>G rs373464940
NM_018060.4(IARS2):c.551-17T>C
NM_018060.4(IARS2):c.551-3del rs574253271
NM_018060.4(IARS2):c.570A>C (p.Ala190=)
NM_018060.4(IARS2):c.575T>C (p.Ile192Thr)
NM_018060.4(IARS2):c.594A>C (p.Ala198=) rs2102818491
NM_018060.4(IARS2):c.597T>C (p.Phe199=)
NM_018060.4(IARS2):c.603T>C (p.Arg201=)
NM_018060.4(IARS2):c.615G>T (p.Met205Ile)
NM_018060.4(IARS2):c.639T>C (p.Tyr213=)
NM_018060.4(IARS2):c.677C>A (p.Thr226Asn)
NM_018060.4(IARS2):c.686A>G (p.Gln229Arg)
NM_018060.4(IARS2):c.692A>G (p.Tyr231Cys)
NM_018060.4(IARS2):c.699+17dup rs571001903
NM_018060.4(IARS2):c.699+20_699+21del
NM_018060.4(IARS2):c.705G>C (p.Leu235Phe)
NM_018060.4(IARS2):c.718T>G (p.Tyr240Asp)
NM_018060.4(IARS2):c.746C>T (p.Ser249Phe)
NM_018060.4(IARS2):c.749+18G>A
NM_018060.4(IARS2):c.749+8T>A
NM_018060.4(IARS2):c.750-20T>G
NM_018060.4(IARS2):c.750-5C>T
NM_018060.4(IARS2):c.750-7C>T
NM_018060.4(IARS2):c.752C>T (p.Thr251Ile)
NM_018060.4(IARS2):c.753T>C (p.Thr251=)
NM_018060.4(IARS2):c.784C>T (p.Pro262Ser)
NM_018060.4(IARS2):c.788A>G (p.Glu263Gly)
NM_018060.4(IARS2):c.799C>T (p.Arg267Cys)
NM_018060.4(IARS2):c.858A>T (p.Ile286=)
NM_018060.4(IARS2):c.859+11T>C
NM_018060.4(IARS2):c.859+8T>G
NM_018060.4(IARS2):c.866C>T (p.Ser289Leu) rs1571845317
NM_018060.4(IARS2):c.888C>T (p.Val296=)
NM_018060.4(IARS2):c.900A>G (p.Gln300=)
NM_018060.4(IARS2):c.920A>G (p.Asn307Ser)
NM_018060.4(IARS2):c.950+13T>C
NM_018060.4(IARS2):c.950+16C>T rs1488379251
NM_018060.4(IARS2):c.950+3G>A
NM_018060.4(IARS2):c.951-7A>G
NM_018060.4(IARS2):c.959T>C (p.Val320Ala)
NM_018060.4(IARS2):c.986T>C (p.Leu329Pro)
NM_018060.4(IARS2):c.991G>A (p.Val331Ile)
NM_018060.4(IARS2):c.996G>A (p.Leu332=)
NM_018060.4(IARS2):c.998C>T (p.Ala333Val)

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