ClinVar Miner

List of variants in gene AARS2 studied for not provided

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 407
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.1015A>G (p.Ile339Val) rs324136 0.89518
NM_020745.4(AARS2):c.2871A>G (p.Ser957=) rs325008 0.87930
NM_020745.4(AARS2):c.2683-20A>G rs325007 0.87773
NM_020745.4(AARS2):c.2598+117G>C rs325005 0.87685
NM_020745.4(AARS2):c.2607G>A (p.Lys869=) rs498512 0.67400
NM_020745.4(AARS2):c.243+6G>A rs167772 0.50019
NM_020745.4(AARS2):c.1301-23T>G rs324137 0.48996
NM_020745.4(AARS2):c.2146-24G>A rs325001 0.47169
NM_020745.4(AARS2):c.2365-115G>C rs325004 0.46847
NM_020745.4(AARS2):c.581+16T>C rs9688508 0.28633
NM_020745.4(AARS2):c.436-37G>A rs41282672 0.28595
NM_020745.4(AARS2):c.749+139T>C rs10807297 0.14253
NM_020745.4(AARS2):c.1015= (p.Ile339=) rs324136 0.10482
NM_020745.4(AARS2):c.1753-54G>T rs74964556 0.03854
NM_020745.4(AARS2):c.1753-14C>G rs74950428 0.03853
NM_020745.4(AARS2):c.2599-221A>G rs12204222 0.03647
NM_020745.4(AARS2):c.2188G>A (p.Val730Met) rs35623954 0.03189
NM_020745.4(AARS2):c.243+209G>A rs116516830 0.02439
NM_020745.4(AARS2):c.243+151G>A rs17288082 0.02262
NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln) rs35967387 0.01853
NM_020745.4(AARS2):c.2548A>G (p.Met850Val) rs35783144 0.01782
NM_020745.4(AARS2):c.420G>A (p.Gly140=) rs75506489 0.01671
NM_020745.4(AARS2):c.2440G>A (p.Val814Met) rs111325758 0.01670
NM_020745.4(AARS2):c.1753-13T>C rs80339975 0.01667
NM_020745.4(AARS2):c.749+136C>A rs116720208 0.01461
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu) rs115815965 0.01205
NM_020745.4(AARS2):c.2794-143G>A rs77287454 0.01085
NM_020745.4(AARS2):c.2598+16G>T rs113721536 0.01078
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) rs113433939 0.01077
NM_020745.4(AARS2):c.1580-48C>T rs76002081 0.01064
NM_020745.4(AARS2):c.436-92G>C rs36117074 0.01056
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln) rs34530313 0.01004
NM_020745.4(AARS2):c.749+14G>A rs74709196 0.00947
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) rs112247130 0.00812
NM_020745.4(AARS2):c.2364+111T>C rs115619046 0.00800
NM_001318876.2(POLR1C):c.946-128378C>A rs115632431 0.00781
NM_020745.4(AARS2):c.750-5G>A rs78410483 0.00739
NM_020745.4(AARS2):c.2683-45G>C rs77555031 0.00720
NM_020745.4(AARS2):c.2682+31G>C rs77920790 0.00719
NM_020745.4(AARS2):c.2008-81A>C rs77510689 0.00682
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) rs78525157 0.00653
NM_020745.4(AARS2):c.436-164A>G rs150281682 0.00638
NM_020745.4(AARS2):c.2007+8C>T rs150125794 0.00599
NM_020745.4(AARS2):c.2256-51C>G rs325003 0.00577
NM_020745.4(AARS2):c.435+150T>G rs138936100 0.00545
NM_020745.4(AARS2):c.894+257T>A rs141196093 0.00384
NM_020745.4(AARS2):c.2365-87C>T rs59078350 0.00382
NM_020745.4(AARS2):c.2488-101A>G rs144194985 0.00357
NM_020745.4(AARS2):c.2008-44G>A rs199785702 0.00348
NM_020745.4(AARS2):c.2033G>A (p.Arg678Gln) rs150973108 0.00340
NM_020745.4(AARS2):c.1398C>T (p.Ser466=) rs146711725 0.00249
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) rs78397386 0.00210
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu) rs147091256 0.00185
NM_020745.4(AARS2):c.2682+27C>T rs190179603 0.00185
NM_020745.4(AARS2):c.-1G>C rs369453852 0.00127
NM_020745.4(AARS2):c.2905G>T (p.Asp969Tyr) rs150039184 0.00123
NM_020745.4(AARS2):c.1621G>A (p.Glu541Lys) rs142094090 0.00087
NM_020745.4(AARS2):c.1649G>C (p.Gly550Ala) rs79962181 0.00087
NM_020745.4(AARS2):c.1173A>G (p.Gln391=) rs150184415 0.00081
NM_020745.4(AARS2):c.960G>A (p.Ala320=) rs775818472 0.00081
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) rs146512155 0.00073
NM_020745.4(AARS2):c.2598+11G>A rs376223052 0.00073
NM_020745.4(AARS2):c.2164C>T (p.Arg722Trp) rs145436818 0.00070
NM_020745.4(AARS2):c.1558C>T (p.Leu520=) rs139032394 0.00066
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys) rs146924860 0.00060
NM_020745.4(AARS2):c.1195A>C (p.Asn399His) rs148363748 0.00059
NM_020745.4(AARS2):c.1150-4C>G rs141516924 0.00049
NM_020745.4(AARS2):c.243+19T>C rs367781252 0.00049
NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln) rs141941157 0.00048
NM_020745.4(AARS2):c.533C>T (p.Ala178Val) rs200343365 0.00043
NM_020745.4(AARS2):c.1569C>T (p.Ser523=) rs374173311 0.00042
NM_020745.4(AARS2):c.895-16C>T rs199695987 0.00039
NM_020745.4(AARS2):c.1300+9G>T rs372864557 0.00025
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_020745.4(AARS2):c.678C>T (p.Tyr226=) rs78135749 0.00023
NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr) rs202171981 0.00021
NM_020745.4(AARS2):c.2683-10C>T rs372088350 0.00021
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val) rs143271585 0.00019
NM_020745.4(AARS2):c.2131C>T (p.Arg711Cys) rs758466937 0.00019
NM_020745.4(AARS2):c.2729C>G (p.Thr910Arg) rs148429504 0.00019
NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr) rs146765163 0.00016
NM_020745.4(AARS2):c.1756G>A (p.Val586Met) rs201873561 0.00015
NM_020745.4(AARS2):c.1661G>A (p.Arg554His) rs139280416 0.00014
NM_020745.4(AARS2):c.2365-16T>C rs367739956 0.00014
NM_020745.4(AARS2):c.2551C>G (p.Leu851Val) rs376103315 0.00014
NM_020745.4(AARS2):c.2892C>T (p.Thr964=) rs371151506 0.00014
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln) rs139974034 0.00014
NM_020745.4(AARS2):c.2682+18C>T rs549379670 0.00013
NM_020745.4(AARS2):c.*9C>T rs772455600 0.00012
NM_020745.4(AARS2):c.1076G>A (p.Arg359His) rs200485499 0.00011
NM_020745.4(AARS2):c.1579+8C>A rs367985989 0.00011
NM_020745.4(AARS2):c.1867-6T>G rs370783971 0.00011
NM_020745.4(AARS2):c.1250G>A (p.Arg417Gln) rs200188616 0.00009
NM_020745.4(AARS2):c.435+9C>T rs199955037 0.00009
NM_020745.4(AARS2):c.673C>T (p.His225Tyr) rs200704447 0.00009
NM_020745.4(AARS2):c.679G>A (p.Asp227Asn) rs765016818 0.00009
NM_020745.4(AARS2):c.824C>T (p.Ala275Val) rs753386864 0.00009
NM_020745.4(AARS2):c.940G>A (p.Glu314Lys) rs546851135 0.00009
NM_020745.4(AARS2):c.82C>G (p.Arg28Gly) rs758360552 0.00008
NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys) rs753324375 0.00007
NM_020745.4(AARS2):c.2730G>A (p.Thr910=) rs201616927 0.00007
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala) rs199919912 0.00007
NM_020745.4(AARS2):c.1474T>C (p.Leu492=) rs141076788 0.00006
NM_020745.4(AARS2):c.147C>T (p.Phe49=) rs766876544 0.00006
NM_020745.4(AARS2):c.1533C>T (p.Asp511=) rs372094957 0.00006
NM_020745.4(AARS2):c.162T>C (p.His54=) rs139144637 0.00006
NM_020745.4(AARS2):c.1832G>A (p.Arg611Gln) rs150402972 0.00006
NM_020745.4(AARS2):c.10T>A (p.Ser4Thr) rs755011099 0.00005
NM_020745.4(AARS2):c.1444C>T (p.Arg482Trp) rs749519355 0.00005
NM_020745.4(AARS2):c.1626C>T (p.Asp542=) rs752676508 0.00005
NM_020745.4(AARS2):c.2097G>T (p.Val699=) rs779714788 0.00005
NM_020745.4(AARS2):c.882C>T (p.Asn294=) rs141636040 0.00005
NM_020745.4(AARS2):c.1595A>G (p.Glu532Gly) rs150729948 0.00004
NM_020745.4(AARS2):c.2220C>T (p.Ala740=) rs147163018 0.00004
NM_020745.4(AARS2):c.2416C>T (p.Arg806Trp) rs200653667 0.00004
NM_020745.4(AARS2):c.244-7C>T rs200662122 0.00004
NM_020745.4(AARS2):c.2579G>A (p.Arg860His) rs775755633 0.00004
NM_020745.4(AARS2):c.2702G>A (p.Arg901Gln) rs768583871 0.00004
NM_020745.4(AARS2):c.60C>T (p.Pro20=) rs781361302 0.00004
NM_020745.4(AARS2):c.1052G>A (p.Arg351His) rs863223862 0.00003
NM_020745.4(AARS2):c.1191C>T (p.Ile397=) rs745806197 0.00003
NM_020745.4(AARS2):c.1435-14T>C rs376986027 0.00003
NM_020745.4(AARS2):c.1926G>A (p.Leu642=) rs766170481 0.00003
NM_020745.4(AARS2):c.2132G>A (p.Arg711His) rs752743037 0.00003
NM_020745.4(AARS2):c.2165G>A (p.Arg722Gln) rs566667883 0.00003
NM_020745.4(AARS2):c.221T>A (p.Phe74Tyr) rs757169781 0.00003
NM_020745.4(AARS2):c.2283G>T (p.Gly761=) rs761550766 0.00003
NM_020745.4(AARS2):c.2417G>A (p.Arg806Gln) rs148172134 0.00003
NM_020745.4(AARS2):c.2561G>A (p.Arg854His) rs751611980 0.00003
NM_020745.4(AARS2):c.2679C>T (p.Leu893=) rs766642839 0.00003
NM_020745.4(AARS2):c.2812A>C (p.Thr938Pro) rs763868546 0.00003
NM_020745.4(AARS2):c.2861C>T (p.Ala954Val) rs747312867 0.00003
NM_020745.4(AARS2):c.436-4G>T rs750609705 0.00003
NM_020745.4(AARS2):c.872C>T (p.Pro291Leu) rs199985183 0.00003
NM_020745.4(AARS2):c.967G>A (p.Val323Met) rs770774995 0.00003
NM_020745.4(AARS2):c.1310C>A (p.Ala437Asp) rs777835089 0.00002
NM_020745.4(AARS2):c.1890G>A (p.Ala630=) rs757968286 0.00002
NM_020745.4(AARS2):c.2146-14C>T rs752755816 0.00002
NM_020745.4(AARS2):c.2221G>A (p.Ala741Thr) rs536579476 0.00002
NM_020745.4(AARS2):c.2445G>A (p.Ala815=) rs540249556 0.00002
NM_020745.4(AARS2):c.2668G>A (p.Ala890Thr) rs752797271 0.00002
NM_020745.4(AARS2):c.670A>C (p.Ile224Leu) rs772630843 0.00002
NM_020745.4(AARS2):c.966C>T (p.Arg322=) rs774493482 0.00002
NM_020745.4(AARS2):c.1047T>G (p.Val349=) rs555363880 0.00001
NM_020745.4(AARS2):c.1064G>A (p.Arg355His) rs768992661 0.00001
NM_020745.4(AARS2):c.1189-11G>C rs1346509852 0.00001
NM_020745.4(AARS2):c.1244G>A (p.Gly415Asp) rs151044424 0.00001
NM_020745.4(AARS2):c.132C>T (p.Ala44=) rs756852994 0.00001
NM_020745.4(AARS2):c.1411C>T (p.Arg471Trp) rs766085905 0.00001
NM_020745.4(AARS2):c.1445G>A (p.Arg482Gln) rs368303351 0.00001
NM_020745.4(AARS2):c.1519G>C (p.Val507Leu) rs182596701 0.00001
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter) rs587777591 0.00001
NM_020745.4(AARS2):c.1584C>T (p.Phe528=) rs781363059 0.00001
NM_020745.4(AARS2):c.1644C>A (p.Ser548=) rs377764395 0.00001
NM_020745.4(AARS2):c.1764C>T (p.Phe588=) rs200425170 0.00001
NM_020745.4(AARS2):c.1831C>T (p.Arg611Trp) rs370481312 0.00001
NM_020745.4(AARS2):c.1867-13A>C rs747012040 0.00001
NM_020745.4(AARS2):c.1874G>A (p.Arg625His) rs898375030 0.00001
NM_020745.4(AARS2):c.2146-11C>T rs886061487 0.00001
NM_020745.4(AARS2):c.2219C>T (p.Ala740Val) rs753952552 0.00001
NM_020745.4(AARS2):c.2270C>T (p.Thr757Ile) rs371852804 0.00001
NM_020745.4(AARS2):c.2353C>G (p.Gln785Glu) rs863223859 0.00001
NM_020745.4(AARS2):c.2369G>A (p.Arg790Gln) rs1327430475 0.00001
NM_020745.4(AARS2):c.2392C>T (p.Gln798Ter) rs751187394 0.00001
NM_020745.4(AARS2):c.2406G>A (p.Ala802=) rs762616214 0.00001
NM_020745.4(AARS2):c.2488-16C>T rs764253221 0.00001
NM_020745.4(AARS2):c.2524C>T (p.Arg842Trp) rs778582339 0.00001
NM_020745.4(AARS2):c.2525G>A (p.Arg842Gln) rs199677657 0.00001
NM_020745.4(AARS2):c.2598+1G>T rs768351915 0.00001
NM_020745.4(AARS2):c.267C>T (p.Thr89=) rs752629942 0.00001
NM_020745.4(AARS2):c.2952G>C (p.Gln984His) rs760967545 0.00001
NM_020745.4(AARS2):c.298C>T (p.Arg100Ter) rs771082902 0.00001
NM_020745.4(AARS2):c.368G>T (p.Arg123Leu) rs745761471 0.00001
NM_020745.4(AARS2):c.639G>A (p.Gly213=) rs751373717 0.00001
NM_020745.4(AARS2):c.77G>A (p.Ser26Asn) rs747099630 0.00001
NM_020745.4(AARS2):c.923G>A (p.Arg308Gln) rs368473952 0.00001
NM_020745.4(AARS2):c.946C>T (p.Arg316Cys) rs765720580 0.00001
NM_020745.4(AARS2):c.959C>T (p.Ala320Val) rs201471937 0.00001
NC_000006.11:g.(?_44274640)_(44278200_?)del
NM_020745.4(AARS2):c.1028T>C (p.Met343Thr)
NM_020745.4(AARS2):c.1036C>A (p.Pro346Thr)
NM_020745.4(AARS2):c.1037C>T (p.Pro346Leu)
NM_020745.4(AARS2):c.1040+10G>C rs2153355392
NM_020745.4(AARS2):c.1041-29A>G rs7740535
NM_020745.4(AARS2):c.1042C>T (p.Leu348=)
NM_020745.4(AARS2):c.1067G>A (p.Arg356Gln)
NM_020745.4(AARS2):c.106G>A (p.Ala36Thr) rs1786528830
NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe) rs2153355304
NM_020745.4(AARS2):c.109G>A (p.Ala37Thr) rs1786528628
NM_020745.4(AARS2):c.1132G>A (p.Val378Ile)
NM_020745.4(AARS2):c.1145C>T (p.Thr382Ile)
NM_020745.4(AARS2):c.1149+8C>T
NM_020745.4(AARS2):c.1150-13C>T
NM_020745.4(AARS2):c.1150-18C>T
NM_020745.4(AARS2):c.115dup (p.Ala39fs) rs971969514
NM_020745.4(AARS2):c.1161T>C (p.Tyr387=)
NM_020745.4(AARS2):c.1188+16G>A
NM_020745.4(AARS2):c.1189-16_1189-14del rs144914586
NM_020745.4(AARS2):c.1189-5T>G
NM_020745.4(AARS2):c.1199T>C (p.Leu400Pro)
NM_020745.4(AARS2):c.119C>G (p.Ser40Trp)
NM_020745.4(AARS2):c.119C>T (p.Ser40Leu) rs778971317
NM_020745.4(AARS2):c.120G>A (p.Ser40=)
NM_020745.4(AARS2):c.1210_1221dup (p.Ala407_Phe408insAspGluAlaAla) rs2153355103
NM_020745.4(AARS2):c.1212C>T (p.Asp404=)
NM_020745.4(AARS2):c.1231T>G (p.Ser411Ala)
NM_020745.4(AARS2):c.1236G>A (p.Leu412=) rs754383916
NM_020745.4(AARS2):c.1249C>A (p.Arg417=)
NM_020745.4(AARS2):c.1249C>T (p.Arg417Trp)
NM_020745.4(AARS2):c.1257T>C (p.Ile419=) rs1583055571
NM_020745.4(AARS2):c.1261C>T (p.Arg421Trp)
NM_020745.4(AARS2):c.1262G>A (p.Arg421Gln)
NM_020745.4(AARS2):c.1281G>A (p.Gly427=) rs557359115
NM_020745.4(AARS2):c.1316C>T (p.Ser439Phe)
NM_020745.4(AARS2):c.1317C>T (p.Ser439=)
NM_020745.4(AARS2):c.1329T>A (p.Cys443Ter)
NM_020745.4(AARS2):c.1350G>A (p.Leu450=)
NM_020745.4(AARS2):c.1366A>G (p.Met456Val)
NM_020745.4(AARS2):c.1379A>G (p.Lys460Arg)
NM_020745.4(AARS2):c.1430C>T (p.Ala477Val)
NM_020745.4(AARS2):c.1434+14C>T
NM_020745.4(AARS2):c.1434+19C>T
NM_020745.4(AARS2):c.1435-13G>A
NM_020745.4(AARS2):c.1435C>T (p.His479Tyr)
NM_020745.4(AARS2):c.1438C>T (p.Arg480Trp)
NM_020745.4(AARS2):c.1440G>A (p.Arg480=)
NM_020745.4(AARS2):c.1446G>T (p.Arg482=)
NM_020745.4(AARS2):c.1486G>A (p.Val496Ile)
NM_020745.4(AARS2):c.1491T>C (p.His497=)
NM_020745.4(AARS2):c.1492G>A (p.Ala498Thr)
NM_020745.4(AARS2):c.1496T>G (p.Leu499Arg) rs2153354700
NM_020745.4(AARS2):c.1506G>A (p.Leu502=) rs2153354698
NM_020745.4(AARS2):c.1508A>G (p.Gln503Arg)
NM_020745.4(AARS2):c.1511G>T (p.Arg504Leu)
NM_020745.4(AARS2):c.1542C>G (p.Pro514=)
NM_020745.4(AARS2):c.1564C>T (p.Pro522Ser) rs943891187
NM_020745.4(AARS2):c.1565C>G (p.Pro522Arg)
NM_020745.4(AARS2):c.156C>T (p.Asp52=)
NM_020745.4(AARS2):c.1570G>A (p.Gly524Arg)
NM_020745.4(AARS2):c.1578T>C (p.Tyr526=)
NM_020745.4(AARS2):c.1587C>T (p.Gly529=)
NM_020745.4(AARS2):c.1612C>A (p.Leu538Met)
NM_020745.4(AARS2):c.1627G>C (p.Gly543Arg)
NM_020745.4(AARS2):c.1629G>A (p.Gly543=)
NM_020745.4(AARS2):c.1632A>G (p.Thr544=) rs2153354539
NM_020745.4(AARS2):c.1634C>T (p.Ala545Val)
NM_020745.4(AARS2):c.1644C>T (p.Ser548=) rs377764395
NM_020745.4(AARS2):c.1645G>A (p.Val549Met)
NM_020745.4(AARS2):c.1662C>T (p.Arg554=) rs912274637
NM_020745.4(AARS2):c.1669C>T (p.Leu557Phe)
NM_020745.4(AARS2):c.1681A>C (p.Arg561=) rs958387642
NM_020745.4(AARS2):c.1696G>A (p.Ala566Thr)
NM_020745.4(AARS2):c.1699G>A (p.Glu567Lys)
NM_020745.4(AARS2):c.16G>A (p.Ala6Thr)
NM_020745.4(AARS2):c.1703_1704del (p.Gln568fs)
NM_020745.4(AARS2):c.1705G>C (p.Gly569Arg)
NM_020745.4(AARS2):c.1710C>G (p.Gly570=) rs2153354504
NM_020745.4(AARS2):c.1738C>T (p.Arg580Trp)
NM_020745.4(AARS2):c.1739G>A (p.Arg580Gln)
NM_020745.4(AARS2):c.1753-6C>T
NM_020745.4(AARS2):c.1755C>T (p.Asp585=)
NM_020745.4(AARS2):c.1809G>C (p.Glu603Asp)
NM_020745.4(AARS2):c.1844A>C (p.Gln615Pro)
NM_020745.4(AARS2):c.1848G>A (p.Val616=) rs957556458
NM_020745.4(AARS2):c.1867-11A>C
NM_020745.4(AARS2):c.1899G>A (p.Thr633=)
NM_020745.4(AARS2):c.1904C>A (p.Thr635Asn)
NM_020745.4(AARS2):c.1936C>T (p.Leu646=)
NM_020745.4(AARS2):c.1988G>A (p.Arg663His)
NM_020745.4(AARS2):c.19G>C (p.Ala7Pro) rs750230257
NM_020745.4(AARS2):c.2007+1G>C rs2153354335
NM_020745.4(AARS2):c.2007+9G>A
NM_020745.4(AARS2):c.2008-11C>G
NM_020745.4(AARS2):c.2008-7C>A rs372126423
NM_020745.4(AARS2):c.2008-7C>G
NM_020745.4(AARS2):c.2008-9C>A
NM_020745.4(AARS2):c.2050G>C (p.Val684Leu)
NM_020745.4(AARS2):c.2057del (p.Glu686fs)
NM_020745.4(AARS2):c.2058G>A (p.Glu686=)
NM_020745.4(AARS2):c.2086A>T (p.Met696Leu) rs955369277
NM_020745.4(AARS2):c.2127C>G (p.Gly709=)
NM_020745.4(AARS2):c.2136T>C (p.Ser712=)
NM_020745.4(AARS2):c.2137C>T (p.Leu713=)
NM_020745.4(AARS2):c.2168T>C (p.Val723Ala)
NM_020745.4(AARS2):c.217C>G (p.Leu73Val)
NM_020745.4(AARS2):c.2187C>T (p.Pro729=)
NM_020745.4(AARS2):c.2195A>G (p.His732Arg)
NM_020745.4(AARS2):c.2200T>C (p.Leu734=)
NM_020745.4(AARS2):c.2210C>G (p.Ala737Gly)
NM_020745.4(AARS2):c.2223A>G (p.Ala741=) rs2153354052
NM_020745.4(AARS2):c.222T>C (p.Phe74=) rs1583062512
NM_020745.4(AARS2):c.2255+12C>T
NM_020745.4(AARS2):c.2255+35C>A rs325002
NM_020745.4(AARS2):c.2255C>T (p.Thr752Met)
NM_020745.4(AARS2):c.2256-2A>G rs2153353988
NM_020745.4(AARS2):c.2267G>A (p.Arg756His)
NM_020745.4(AARS2):c.2289G>C (p.Leu763=)
NM_020745.4(AARS2):c.2305C>T (p.Arg769Cys)
NM_020745.4(AARS2):c.2306G>A (p.Arg769His)
NM_020745.4(AARS2):c.2322C>T (p.Gly774=)
NM_020745.4(AARS2):c.2329C>T (p.Arg777Cys)
NM_020745.4(AARS2):c.2330G>A (p.Arg777His)
NM_020745.4(AARS2):c.2362C>G (p.Gln788Glu)
NM_020745.4(AARS2):c.2364+19C>G
NM_020745.4(AARS2):c.2365-10C>T
NM_020745.4(AARS2):c.2365-11C>A
NM_020745.4(AARS2):c.2393del (p.Gln798fs)
NM_020745.4(AARS2):c.2397A>G (p.Glu799=)
NM_020745.4(AARS2):c.2430del (p.Ser811fs)
NM_020745.4(AARS2):c.2435G>A (p.Arg812Gln)
NM_020745.4(AARS2):c.244-13T>C
NM_020745.4(AARS2):c.2444C>T (p.Ala815Val)
NM_020745.4(AARS2):c.2502T>C (p.Ala834=)
NM_020745.4(AARS2):c.2522G>A (p.Arg841Gln)
NM_020745.4(AARS2):c.2528A>G (p.Glu843Gly)
NM_020745.4(AARS2):c.2542G>A (p.Val848Met) rs2153353779
NM_020745.4(AARS2):c.2556G>A (p.Gln852=)
NM_020745.4(AARS2):c.2577C>T (p.Ile859=)
NM_020745.4(AARS2):c.2598+130_2598+132del rs3831223
NM_020745.4(AARS2):c.2598+3G>A
NM_020745.4(AARS2):c.2598+9_2598+11del rs773017457
NM_020745.4(AARS2):c.25G>T (p.Ala9Ser) rs537231845
NM_020745.4(AARS2):c.2607del (p.Thr871fs)
NM_020745.4(AARS2):c.2611dup (p.Thr871fs) rs749666514
NM_020745.4(AARS2):c.2622G>A (p.Leu874=)
NM_020745.4(AARS2):c.262G>A (p.Gly88Ser) rs2153357655
NM_020745.4(AARS2):c.2636C>T (p.Ser879Leu)
NM_020745.4(AARS2):c.2643G>T (p.Gly881=)
NM_020745.4(AARS2):c.2654T>G (p.Val885Gly)
NM_020745.4(AARS2):c.2658C>A (p.Asp886Glu) rs758434921
NM_020745.4(AARS2):c.2682+10A>T
NM_020745.4(AARS2):c.2683-21_2683-20inv
NM_020745.4(AARS2):c.2683-2A>G
NM_020745.4(AARS2):c.2685G>C (p.Val895=)
NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp) rs145086947
NM_020745.4(AARS2):c.2709G>A (p.Leu903=)
NM_020745.4(AARS2):c.2718G>C (p.Gln906His)
NM_020745.4(AARS2):c.2722C>A (p.Pro908Thr)
NM_020745.4(AARS2):c.2722C>T (p.Pro908Ser) rs202149382
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs) rs780343109
NM_020745.4(AARS2):c.2729C>T (p.Thr910Met)
NM_020745.4(AARS2):c.2757C>T (p.Pro919=)
NM_020745.4(AARS2):c.2793+20A>G
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA rs10627820
NM_020745.4(AARS2):c.2794G>A (p.Gly932Ser) rs886061485
NM_020745.4(AARS2):c.282C>T (p.Ser94=)
NM_020745.4(AARS2):c.2830C>T (p.Leu944=)
NM_020745.4(AARS2):c.2871_2872inv (p.Arg958Ter)
NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter)
NM_020745.4(AARS2):c.2908C>T (p.Leu970=)
NM_020745.4(AARS2):c.2937C>G (p.Thr979=) rs200778121
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del) rs562829310
NM_020745.4(AARS2):c.321A>G (p.Lys107=)
NM_020745.4(AARS2):c.325G>T (p.Val109Leu)
NM_020745.4(AARS2):c.344A>T (p.His115Leu) rs757866075
NM_020745.4(AARS2):c.348C>T (p.Asn116=)
NM_020745.4(AARS2):c.352C>G (p.Leu118Val)
NM_020745.4(AARS2):c.367C>T (p.Arg123Ter)
NM_020745.4(AARS2):c.384T>C (p.His128=)
NM_020745.4(AARS2):c.387CTT[1] (p.Phe131del) rs1561943859
NM_020745.4(AARS2):c.401T>C (p.Leu134Pro)
NM_020745.4(AARS2):c.451A>T (p.Met151Leu)
NM_020745.4(AARS2):c.455C>G (p.Ala152Gly) rs2153357333
NM_020745.4(AARS2):c.46A>G (p.Ile16Val)
NM_020745.4(AARS2):c.486C>A (p.Ile162=)
NM_020745.4(AARS2):c.4G>A (p.Ala2Thr)
NM_020745.4(AARS2):c.502T>C (p.Trp168Arg) rs2153357315
NM_020745.4(AARS2):c.509C>T (p.Ser170Phe) rs1367537494
NM_020745.4(AARS2):c.539T>C (p.Leu180Pro) rs2153357304
NM_020745.4(AARS2):c.547G>C (p.Asp183His)
NM_020745.4(AARS2):c.566T>G (p.Ile189Ser)
NM_020745.4(AARS2):c.572T>G (p.Leu191Arg)
NM_020745.4(AARS2):c.582-16C>G
NM_020745.4(AARS2):c.582-17C>G
NM_020745.4(AARS2):c.582-6C>T
NM_020745.4(AARS2):c.600G>A (p.Val200=)
NM_020745.4(AARS2):c.604T>C (p.Ser202Pro)
NM_020745.4(AARS2):c.63A>C (p.Ala21=)
NM_020745.4(AARS2):c.647dup (p.Cys218fs) rs587777589
NM_020745.4(AARS2):c.651T>C (p.Pro217=)
NM_020745.4(AARS2):c.653G>C (p.Cys218Ser)
NM_020745.4(AARS2):c.671T>A (p.Ile224Asn) rs1786308486
NM_020745.4(AARS2):c.682C>T (p.Leu228Phe)
NM_020745.4(AARS2):c.711G>A (p.Leu237=)
NM_020745.4(AARS2):c.726C>T (p.Asn242=) rs1786303047
NM_020745.4(AARS2):c.739C>A (p.Gln247Lys)
NM_020745.4(AARS2):c.749+17G>A
NM_020745.4(AARS2):c.750-81del rs540341777
NM_020745.4(AARS2):c.755C>G (p.Ala252Gly) rs748309472
NM_020745.4(AARS2):c.781del (p.Gln261fs) rs1554148927
NM_020745.4(AARS2):c.816G>T (p.Arg272Ser)
NM_020745.4(AARS2):c.846C>G (p.Ser282=)
NM_020745.4(AARS2):c.85C>T (p.Pro29Ser)
NM_020745.4(AARS2):c.881A>G (p.Asn294Ser)
NM_020745.4(AARS2):c.894+16_894+20del
NM_020745.4(AARS2):c.895-13_895-12inv
NM_020745.4(AARS2):c.895-64C>A rs41282670
NM_020745.4(AARS2):c.907C>A (p.Pro303Thr)
NM_020745.4(AARS2):c.922C>A (p.Arg308=) rs770902982
NM_020745.4(AARS2):c.929G>T (p.Gly310Val)
NM_020745.4(AARS2):c.941_943del (p.Glu314del)
NM_020745.4(AARS2):c.947G>A (p.Arg316His)
NM_020745.4(AARS2):c.965G>A (p.Arg322His)
NM_020745.4(AARS2):c.96G>T (p.Ser32=)
NM_020745.4(AARS2):c.984C>G (p.Ile328Met) rs2153355427

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