ClinVar Miner

List of variants in gene QARS1 reported as uncertain significance for Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

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Gene type:
ClinVar version:
Total variants: 341
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HGVS dbSNP gnomAD frequency
NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu) rs142327602 0.00108
NM_005051.3(QARS1):c.1051C>T (p.Arg351Cys) rs763901654 0.00037
NM_005051.3(QARS1):c.316G>A (p.Asp106Asn) rs141983717 0.00034
NM_005051.3(QARS1):c.2261A>G (p.Asp754Gly) rs142480574 0.00026
NM_005051.3(QARS1):c.1246G>A (p.Val416Ile) rs147076980 0.00024
NM_005051.3(QARS1):c.1568G>A (p.Arg523Gln) rs201013732 0.00021
NM_005051.3(QARS1):c.400C>T (p.Arg134Trp) rs142831772 0.00018
NM_005051.3(QARS1):c.143T>C (p.Ile48Thr) rs201397059 0.00016
NM_005051.3(QARS1):c.1195G>A (p.Glu399Lys) rs143072084 0.00014
NM_005051.3(QARS1):c.1712T>C (p.Val571Ala) rs755259427 0.00014
NM_005051.3(QARS1):c.451+4A>C rs370688039 0.00014
NM_005051.3(QARS1):c.947C>T (p.Thr316Met) rs151217558 0.00014
NM_005051.3(QARS1):c.2085-12C>G rs549153964 0.00012
NM_005051.3(QARS1):c.610G>A (p.Ala204Thr) rs148374607 0.00012
NM_005051.3(QARS1):c.1999C>T (p.Arg667Trp) rs370587517 0.00011
NM_005051.3(QARS1):c.337G>A (p.Val113Met) rs767616063 0.00011
NM_005051.3(QARS1):c.461G>A (p.Arg154Gln) rs201032950 0.00010
NM_005051.3(QARS1):c.1585C>T (p.Pro529Ser) rs373719958 0.00009
NM_005051.3(QARS1):c.451+5G>C rs376304606 0.00009
NM_005051.3(QARS1):c.1612C>T (p.Arg538Trp) rs201176263 0.00007
NM_005051.3(QARS1):c.1886G>A (p.Arg629His) rs139730889 0.00007
NM_005051.3(QARS1):c.1559C>T (p.Thr520Met) rs764216449 0.00006
NM_005051.3(QARS1):c.297G>C (p.Leu99Phe) rs147794116 0.00006
NM_005051.3(QARS1):c.601C>T (p.Arg201Trp) rs200703354 0.00006
NM_005051.3(QARS1):c.901C>T (p.Arg301Cys) rs1370265763 0.00006
NM_005051.3(QARS1):c.1613G>A (p.Arg538Gln) rs778807845 0.00005
NM_005051.3(QARS1):c.2110C>G (p.Pro704Ala) rs527504481 0.00005
NM_005051.3(QARS1):c.818A>G (p.Asn273Ser) rs200736711 0.00005
NM_005051.3(QARS1):c.1163A>G (p.Glu388Gly) rs777424712 0.00004
NM_005051.3(QARS1):c.1279C>T (p.Arg427Cys) rs746114521 0.00004
NM_005051.3(QARS1):c.1304A>G (p.Tyr435Cys) rs143462532 0.00004
NM_005051.3(QARS1):c.1727G>A (p.Arg576Gln) rs983282837 0.00004
NM_005051.3(QARS1):c.1741A>G (p.Asn581Asp) rs777671697 0.00004
NM_005051.3(QARS1):c.2085-3C>T rs1024765171 0.00004
NM_005051.3(QARS1):c.2174C>T (p.Ala725Val) rs913919560 0.00004
NM_005051.3(QARS1):c.2210C>T (p.Pro737Leu) rs772699618 0.00004
NM_005051.3(QARS1):c.2215G>A (p.Asp739Asn) rs749055007 0.00004
NM_005051.3(QARS1):c.2218A>C (p.Lys740Gln) rs925254000 0.00004
NM_005051.3(QARS1):c.418G>C (p.Glu140Gln) rs896454620 0.00004
NM_005051.3(QARS1):c.697A>C (p.Lys233Gln) rs1248234116 0.00004
NM_005051.3(QARS1):c.8C>T (p.Ala3Val) rs748155291 0.00004
NM_005051.3(QARS1):c.1004C>T (p.Ala335Val) rs778484822 0.00003
NM_005051.3(QARS1):c.1085G>T (p.Gly362Val) rs763512186 0.00003
NM_005051.3(QARS1):c.1292A>C (p.Lys431Thr) rs778340693 0.00003
NM_005051.3(QARS1):c.1607G>C (p.Cys536Ser) rs771579029 0.00003
NM_005051.3(QARS1):c.1738A>G (p.Thr580Ala) rs750907390 0.00003
NM_005051.3(QARS1):c.2069G>A (p.Arg690His) rs201781920 0.00003
NM_005051.3(QARS1):c.2223C>G (p.Phe741Leu) rs1282040984 0.00003
NM_005051.3(QARS1):c.668A>G (p.Gln223Arg) rs750460731 0.00003
NM_005051.3(QARS1):c.1094T>C (p.Leu365Pro) rs962759884 0.00002
NM_005051.3(QARS1):c.1172G>A (p.Arg391His) rs746827969 0.00002
NM_005051.3(QARS1):c.1189G>C (p.Glu397Gln) rs758759632 0.00002
NM_005051.3(QARS1):c.140C>T (p.Thr47Ile) rs1342775742 0.00002
NM_005051.3(QARS1):c.1457G>A (p.Arg486His) rs1250051938 0.00002
NM_005051.3(QARS1):c.1614+3A>G rs1485211824 0.00002
NM_005051.3(QARS1):c.1841T>C (p.Ile614Thr) rs778303235 0.00002
NM_005051.3(QARS1):c.1876G>C (p.Gly626Arg) rs758025209 0.00002
NM_005051.3(QARS1):c.187C>G (p.Leu63Val) rs540260992 0.00002
NM_005051.3(QARS1):c.1928A>G (p.Tyr643Cys) rs1396216642 0.00002
NM_005051.3(QARS1):c.2075A>G (p.Tyr692Cys) rs557972227 0.00002
NM_005051.3(QARS1):c.2164G>A (p.Val722Met) rs781454677 0.00002
NM_005051.3(QARS1):c.2195T>C (p.Val732Ala) rs763741745 0.00002
NM_005051.3(QARS1):c.388A>G (p.Ile130Val) rs777778390 0.00002
NM_005051.3(QARS1):c.602G>A (p.Arg201Gln) rs192040640 0.00002
NM_005051.3(QARS1):c.665A>C (p.Glu222Ala) rs1349950171 0.00002
NM_005051.3(QARS1):c.800G>A (p.Arg267Gln) rs777675321 0.00002
NM_005051.3(QARS1):c.1028A>G (p.Tyr343Cys) rs2042454007 0.00001
NM_005051.3(QARS1):c.1031C>T (p.Ala344Val) rs749995144 0.00001
NM_005051.3(QARS1):c.1052G>A (p.Arg351His) rs1450459883 0.00001
NM_005051.3(QARS1):c.1060C>G (p.Leu354Val) rs1370961350 0.00001
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) rs185476065 0.00001
NM_005051.3(QARS1):c.1133G>A (p.Arg378His) rs777116688 0.00001
NM_005051.3(QARS1):c.1160T>G (p.Phe387Cys) rs899079673 0.00001
NM_005051.3(QARS1):c.1164+6G>C rs1553751939 0.00001
NM_005051.3(QARS1):c.1164G>T (p.Glu388Asp) rs201842141 0.00001
NM_005051.3(QARS1):c.1170G>A (p.Met390Ile) rs1559967769 0.00001
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp) rs587777332 0.00001
NM_005051.3(QARS1):c.1208G>A (p.Arg403Gln) rs370681625 0.00001
NM_005051.3(QARS1):c.1267A>G (p.Thr423Ala) rs746791896 0.00001
NM_005051.3(QARS1):c.1280G>A (p.Arg427His) rs148004466 0.00001
NM_005051.3(QARS1):c.128C>G (p.Thr43Ser) rs550717519 0.00001
NM_005051.3(QARS1):c.1313A>G (p.Tyr438Cys) rs1020521977 0.00001
NM_005051.3(QARS1):c.1315G>A (p.Asp439Asn) rs764347049 0.00001
NM_005051.3(QARS1):c.1385C>T (p.Ala462Val) rs373289986 0.00001
NM_005051.3(QARS1):c.1389-3C>A rs368358627 0.00001
NM_005051.3(QARS1):c.1390C>T (p.Arg464Cys) rs141072684 0.00001
NM_005051.3(QARS1):c.1423G>C (p.Asp475His) rs1367183765 0.00001
NM_005051.3(QARS1):c.1435C>T (p.Pro479Ser) rs766391690 0.00001
NM_005051.3(QARS1):c.1456C>T (p.Arg486Cys) rs750282631 0.00001
NM_005051.3(QARS1):c.1507G>A (p.Val503Ile) rs1287967203 0.00001
NM_005051.3(QARS1):c.1560G>A (p.Thr520=) rs1216381228 0.00001
NM_005051.3(QARS1):c.1630G>A (p.Ala544Thr) rs918156086 0.00001
NM_005051.3(QARS1):c.1672C>T (p.Arg558Cys) rs150328993 0.00001
NM_005051.3(QARS1):c.1687G>A (p.Asp563Asn) rs974143738 0.00001
NM_005051.3(QARS1):c.1732A>G (p.Ile578Val) rs758929887 0.00001
NM_005051.3(QARS1):c.1774G>C (p.Val592Leu) rs751191501 0.00001
NM_005051.3(QARS1):c.1787C>T (p.Pro596Leu) rs148882908 0.00001
NM_005051.3(QARS1):c.1805G>C (p.Gly602Ala) rs972789446 0.00001
NM_005051.3(QARS1):c.1822T>G (p.Phe608Val) rs145548376 0.00001
NM_005051.3(QARS1):c.1832T>G (p.Ile611Ser) rs757743183 0.00001
NM_005051.3(QARS1):c.1847G>A (p.Arg616Lys) rs2042428248 0.00001
NM_005051.3(QARS1):c.1972G>C (p.Val658Leu) rs748978904 0.00001
NM_005051.3(QARS1):c.2000G>A (p.Arg667Gln) rs1037325022 0.00001
NM_005051.3(QARS1):c.200G>A (p.Arg67Gln) rs1575404377 0.00001
NM_005051.3(QARS1):c.2083C>G (p.Leu695Val) rs376482152 0.00001
NM_005051.3(QARS1):c.2153C>T (p.Ala718Val) rs1332410993 0.00001
NM_005051.3(QARS1):c.2209C>A (p.Pro737Thr) rs527864842 0.00001
NM_005051.3(QARS1):c.2234G>A (p.Arg745His) rs770019480 0.00001
NM_005051.3(QARS1):c.2251G>A (p.Val751Met) rs781617872 0.00001
NM_005051.3(QARS1):c.226A>G (p.Ile76Val) rs755600734 0.00001
NM_005051.3(QARS1):c.2277+1G>C rs1193194264 0.00001
NM_005051.3(QARS1):c.2290C>T (p.Arg764Ter) rs746327492 0.00001
NM_005051.3(QARS1):c.2291G>A (p.Arg764Gln) rs1291965738 0.00001
NM_005051.3(QARS1):c.2311G>A (p.Asp771Asn) rs754648501 0.00001
NM_005051.3(QARS1):c.2317G>A (p.Gly773Arg) rs762570876 0.00001
NM_005051.3(QARS1):c.2320A>G (p.Lys774Glu) rs373300144 0.00001
NM_005051.3(QARS1):c.248C>T (p.Thr83Ile) rs2042510350 0.00001
NM_005051.3(QARS1):c.253C>A (p.Pro85Thr) rs1264945460 0.00001
NM_005051.3(QARS1):c.274G>C (p.Glu92Gln) rs201997520 0.00001
NM_005051.3(QARS1):c.277T>C (p.Tyr93His) rs1205366710 0.00001
NM_005051.3(QARS1):c.401G>A (p.Arg134Gln) rs751676545 0.00001
NM_005051.3(QARS1):c.419A>G (p.Glu140Gly) rs750778308 0.00001
NM_005051.3(QARS1):c.421C>T (p.Arg141Cys) rs765585957 0.00001
NM_005051.3(QARS1):c.422G>A (p.Arg141His) rs1293633518 0.00001
NM_005051.3(QARS1):c.460C>T (p.Arg154Trp) rs766000850 0.00001
NM_005051.3(QARS1):c.487A>G (p.Lys163Glu) rs1398173228 0.00001
NM_005051.3(QARS1):c.4G>A (p.Ala2Thr) rs1375795727 0.00001
NM_005051.3(QARS1):c.513G>A (p.Met171Ile) rs1158546093 0.00001
NM_005051.3(QARS1):c.539A>G (p.Lys180Arg) rs1052975324 0.00001
NM_005051.3(QARS1):c.557A>G (p.Glu186Gly) rs1346246672 0.00001
NM_005051.3(QARS1):c.608C>T (p.Thr203Met) rs371204910 0.00001
NM_005051.3(QARS1):c.625G>A (p.Glu209Lys) rs2042480469 0.00001
NM_005051.3(QARS1):c.676G>C (p.Gly226Arg) rs769241806 0.00001
NM_005051.3(QARS1):c.699G>T (p.Lys233Asn) rs2042475313 0.00001
NM_005051.3(QARS1):c.781G>C (p.Gly261Arg) rs779251239 0.00001
NM_005051.3(QARS1):c.794G>A (p.Arg265His) rs916890735 0.00001
NM_005051.3(QARS1):c.902G>A (p.Arg301His) rs1553752019 0.00001
NM_005051.3(QARS1):c.943T>C (p.Phe315Leu) rs779300608 0.00001
NM_005051.3(QARS1):c.977G>A (p.Gly326Asp) rs746002985 0.00001
NM_005051.3(QARS1):c.1004C>G (p.Ala335Gly) rs778484822
NM_005051.3(QARS1):c.1013A>G (p.Tyr338Cys) rs1174267054
NM_005051.3(QARS1):c.1036G>A (p.Ala346Thr) rs2042453818
NM_005051.3(QARS1):c.1049T>G (p.Ile350Ser)
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005051.3(QARS1):c.1067A>T (p.Tyr356Phe) rs2107103019
NM_005051.3(QARS1):c.1073G>T (p.Cys358Phe) rs2042451884
NM_005051.3(QARS1):c.1090G>C (p.Glu364Gln)
NM_005051.3(QARS1):c.1097A>G (p.Lys366Arg) rs2042451493
NM_005051.3(QARS1):c.1099G>A (p.Gly367Ser)
NM_005051.3(QARS1):c.10C>G (p.Leu4Val)
NM_005051.3(QARS1):c.1114C>T (p.Pro372Ser)
NM_005051.3(QARS1):c.1132C>G (p.Arg378Gly) rs185476065
NM_005051.3(QARS1):c.1139T>G (p.Met380Arg) rs2042451058
NM_005051.3(QARS1):c.1141GAG[1] (p.Glu382del) rs2042450960
NM_005051.3(QARS1):c.1156C>T (p.Leu386Phe) rs1291156079
NM_005051.3(QARS1):c.1160T>C (p.Phe387Ser)
NM_005051.3(QARS1):c.1162G>C (p.Glu388Gln)
NM_005051.3(QARS1):c.1164+3G>A
NM_005051.3(QARS1):c.1164+6G>A rs1553751939
NM_005051.3(QARS1):c.1168A>G (p.Met390Val)
NM_005051.3(QARS1):c.118-3C>T
NM_005051.3(QARS1):c.1181A>G (p.Lys394Arg) rs2107102257
NM_005051.3(QARS1):c.11T>C (p.Leu4Pro) rs368809933
NM_005051.3(QARS1):c.1223T>C (p.Met408Thr) rs2107102130
NM_005051.3(QARS1):c.1229A>G (p.Asp410Gly) rs2107102098
NM_005051.3(QARS1):c.1253A>G (p.Tyr418Cys) rs772662033
NM_005051.3(QARS1):c.1256G>A (p.Arg419Gln)
NM_005051.3(QARS1):c.125A>C (p.Gln42Pro) rs546520104
NM_005051.3(QARS1):c.1265A>G (p.Tyr422Cys)
NM_005051.3(QARS1):c.1270C>G (p.Pro424Ala) rs918533004
NM_005051.3(QARS1):c.1270C>T (p.Pro424Ser) rs918533004
NM_005051.3(QARS1):c.1274A>G (p.His425Arg)
NM_005051.3(QARS1):c.1274A>T (p.His425Leu) rs2107101880
NM_005051.3(QARS1):c.1276C>A (p.His426Asn)
NM_005051.3(QARS1):c.1283C>T (p.Thr428Ile)
NM_005051.3(QARS1):c.1286G>A (p.Gly429Glu) rs2042446400
NM_005051.3(QARS1):c.1288G>A (p.Asp430Asn)
NM_005051.3(QARS1):c.1301T>C (p.Ile434Thr) rs1559967530
NM_005051.3(QARS1):c.1307C>A (p.Pro436His) rs1456791515
NM_005051.3(QARS1):c.1307C>T (p.Pro436Leu) rs1456791515
NM_005051.3(QARS1):c.1309A>T (p.Thr437Ser) rs2042443898
NM_005051.3(QARS1):c.130C>A (p.Leu44Met) rs752660207
NM_005051.3(QARS1):c.131T>C (p.Leu44Pro) rs1559970954
NM_005051.3(QARS1):c.1342A>G (p.Ile448Val) rs2042443370
NM_005051.3(QARS1):c.1375G>A (p.Glu459Lys)
NM_005051.3(QARS1):c.1388G>A (p.Arg463Gln) rs374178767
NM_005051.3(QARS1):c.1389-3C>T
NM_005051.3(QARS1):c.1417G>C (p.Ala473Pro) rs2042439830
NM_005051.3(QARS1):c.1418C>T (p.Ala473Val) rs1064797070
NM_005051.3(QARS1):c.1420C>G (p.Leu474Val) rs754909328
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) rs1172486173
NM_005051.3(QARS1):c.1453G>C (p.Gly485Arg) rs878854751
NM_005051.3(QARS1):c.1478T>A (p.Val493Asp) rs1060502308
NM_005051.3(QARS1):c.1486A>G (p.Lys496Glu) rs2042438753
NM_005051.3(QARS1):c.149A>G (p.Lys50Arg) rs1559970922
NM_005051.3(QARS1):c.1505T>G (p.Leu502Arg) rs2042438556
NM_005051.3(QARS1):c.1507G>T (p.Val503Leu)
NM_005051.3(QARS1):c.1528G>A (p.Asp510Asn) rs2042436829
NM_005051.3(QARS1):c.1559C>G (p.Thr520Arg) rs764216449
NM_005051.3(QARS1):c.155C>T (p.Thr52Ile) rs371410194
NM_005051.3(QARS1):c.1561G>A (p.Ala521Thr) rs756375405
NM_005051.3(QARS1):c.1571G>A (p.Arg524Gln)
NM_005051.3(QARS1):c.1571G>T (p.Arg524Leu) rs767053528
NM_005051.3(QARS1):c.1573C>T (p.Arg525Trp) rs1553751726
NM_005051.3(QARS1):c.1582C>G (p.Pro528Ala)
NM_005051.3(QARS1):c.1582C>T (p.Pro528Ser) rs1559967000
NM_005051.3(QARS1):c.1591G>A (p.Ala531Thr)
NM_005051.3(QARS1):c.1613G>T (p.Arg538Leu)
NM_005051.3(QARS1):c.1615-2A>T rs369802930
NM_005051.3(QARS1):c.1648C>T (p.Pro550Ser)
NM_005051.3(QARS1):c.1651C>T (p.His551Tyr) rs775185486
NM_005051.3(QARS1):c.1654C>G (p.Leu552Val) rs2107099204
NM_005051.3(QARS1):c.1658T>A (p.Leu553Gln) rs1559966841
NM_005051.3(QARS1):c.1667G>A (p.Cys556Tyr) rs879232053
NM_005051.3(QARS1):c.1669G>A (p.Val557Met)
NM_005051.3(QARS1):c.1672C>A (p.Arg558Ser) rs150328993
NM_005051.3(QARS1):c.1673G>A (p.Arg558His)
NM_005051.3(QARS1):c.1681C>G (p.Leu561Val) rs1559966804
NM_005051.3(QARS1):c.1694C>T (p.Ala565Val) rs2107098980
NM_005051.3(QARS1):c.1700G>A (p.Arg567Gln) rs1468382416
NM_005051.3(QARS1):c.1726C>T (p.Arg576Trp) rs780301490
NM_005051.3(QARS1):c.1735A>G (p.Ile579Val)
NM_005051.3(QARS1):c.1739C>T (p.Thr580Ile) rs2107098823
NM_005051.3(QARS1):c.1746T>A (p.Phe582Leu) rs762223639
NM_005051.3(QARS1):c.1747C>A (p.Pro583Thr)
NM_005051.3(QARS1):c.1757A>G (p.Lys586Arg) rs2107098749
NM_005051.3(QARS1):c.1758+4G>A
NM_005051.3(QARS1):c.1758G>C (p.Lys586Asn) rs2107098742
NM_005051.3(QARS1):c.1770C>G (p.Ile590Met)
NM_005051.3(QARS1):c.1786C>T (p.Pro596Ser)
NM_005051.3(QARS1):c.1826C>T (p.Ala609Val) rs909987369
NM_005051.3(QARS1):c.184C>G (p.Arg62Gly)
NM_005051.3(QARS1):c.1855T>C (p.Phe619Leu) rs758004160
NM_005051.3(QARS1):c.185G>A (p.Arg62Gln) rs1060502307
NM_005051.3(QARS1):c.1864-3T>G
NM_005051.3(QARS1):c.1864-7T>G rs756620094
NM_005051.3(QARS1):c.1872G>T (p.Glu624Asp) rs537960607
NM_005051.3(QARS1):c.1885C>T (p.Arg629Cys) rs979330776
NM_005051.3(QARS1):c.1886G>T (p.Arg629Leu)
NM_005051.3(QARS1):c.1925G>C (p.Gly642Ala) rs2042423880
NM_005051.3(QARS1):c.1930G>A (p.Val644Ile)
NM_005051.3(QARS1):c.1930G>T (p.Val644Phe) rs775375268
NM_005051.3(QARS1):c.1946A>G (p.His649Arg) rs2107096780
NM_005051.3(QARS1):c.1954A>G (p.Lys652Glu)
NM_005051.3(QARS1):c.1958G>T (p.Gly653Val) rs770657741
NM_005051.3(QARS1):c.1967G>C (p.Gly656Ala) rs1298749529
NM_005051.3(QARS1):c.1978A>T (p.Ser660Cys) rs2042421299
NM_005051.3(QARS1):c.1979G>C (p.Ser660Thr) rs755672487
NM_005051.3(QARS1):c.199C>G (p.Arg67Gly) rs780618692
NM_005051.3(QARS1):c.202C>G (p.Arg68Gly)
NM_005051.3(QARS1):c.205C>T (p.Leu69Phe) rs1223986953
NM_005051.3(QARS1):c.2081G>A (p.Arg694Gln) rs772994973
NM_005051.3(QARS1):c.2084+19G>A
NM_005051.3(QARS1):c.2087T>G (p.Phe696Cys)
NM_005051.3(QARS1):c.2092C>T (p.His698Tyr)
NM_005051.3(QARS1):c.2093A>C (p.His698Pro) rs2042417727
NM_005051.3(QARS1):c.209C>T (p.Ser70Phe) rs748894610
NM_005051.3(QARS1):c.2104G>A (p.Glu702Lys) rs2107095526
NM_005051.3(QARS1):c.2114C>A (p.Thr705Asn)
NM_005051.3(QARS1):c.2116G>A (p.Glu706Lys)
NM_005051.3(QARS1):c.2122C>G (p.Pro708Ala) rs778699748
NM_005051.3(QARS1):c.2142C>A (p.Asp714Glu)
NM_005051.3(QARS1):c.2149C>G (p.Leu717Val) rs760143907
NM_005051.3(QARS1):c.214C>T (p.Leu72Phe) rs1362208293
NM_005051.3(QARS1):c.2152G>C (p.Ala718Pro) rs2042415174
NM_005051.3(QARS1):c.2167G>C (p.Val723Leu)
NM_005051.3(QARS1):c.2170G>C (p.Asp724His) rs2042414914
NM_005051.3(QARS1):c.2173G>C (p.Ala725Pro) rs2042414825
NM_005051.3(QARS1):c.2210C>A (p.Pro737His) rs772699618
NM_005051.3(QARS1):c.2220G>C (p.Lys740Asn)
NM_005051.3(QARS1):c.2226G>T (p.Gln742His) rs370685207
NM_005051.3(QARS1):c.2249C>T (p.Ser750Phe) rs1293778465
NM_005051.3(QARS1):c.224A>G (p.Tyr75Cys) rs2042510780
NM_005051.3(QARS1):c.2265C>G (p.Ser755Arg) rs2042413109
NM_005051.3(QARS1):c.2270A>G (p.Gln757Arg) rs1426097729
NM_005051.3(QARS1):c.2277+16_2277+17delinsAC
NM_005051.3(QARS1):c.2277+3G>A rs2042412962
NM_005051.3(QARS1):c.2277G>T (p.Lys759Asn)
NM_005051.3(QARS1):c.228A>G (p.Ile76Met)
NM_005051.3(QARS1):c.2293del (p.Thr765fs) rs2107087591
NM_005051.3(QARS1):c.2312A>C (p.Asp771Ala)
NM_005051.3(QARS1):c.232A>G (p.Ser78Gly) rs767410688
NM_005051.3(QARS1):c.250G>A (p.Glu84Lys) rs2042510296
NM_005051.3(QARS1):c.252_253insAAG (p.Glu84_Pro85insLys) rs2042510195
NM_005051.3(QARS1):c.253C>T (p.Pro85Ser) rs1264945460
NM_005051.3(QARS1):c.264C>A (p.Ser88Arg) rs1483058377
NM_005051.3(QARS1):c.266-9_266-6del
NM_005051.3(QARS1):c.296T>C (p.Leu99Ser) rs2107112761
NM_005051.3(QARS1):c.319T>C (p.Phe107Leu)
NM_005051.3(QARS1):c.321C>A (p.Phe107Leu) rs201359259
NM_005051.3(QARS1):c.337G>C (p.Val113Leu) rs767616063
NM_005051.3(QARS1):c.346A>G (p.Ile116Val)
NM_005051.3(QARS1):c.377T>C (p.Val126Ala) rs749082327
NM_005051.3(QARS1):c.425A>T (p.Tyr142Phe)
NM_005051.3(QARS1):c.452-13C>T
NM_005051.3(QARS1):c.455A>C (p.Glu152Ala) rs2042496370
NM_005051.3(QARS1):c.511A>G (p.Met171Val) rs2107111057
NM_005051.3(QARS1):c.518T>G (p.Val173Gly) rs2107109072
NM_005051.3(QARS1):c.553C>A (p.Leu185Met)
NM_005051.3(QARS1):c.559AAG[1] (p.Lys188del)
NM_005051.3(QARS1):c.562_563inv (p.Lys188Leu)
NM_005051.3(QARS1):c.570+2_570+4dup rs2107108872
NM_005051.3(QARS1):c.570+5G>A rs2107108867
NM_005051.3(QARS1):c.571-3C>G rs1060502309
NM_005051.3(QARS1):c.584G>A (p.Arg195Gln) rs781731563
NM_005051.3(QARS1):c.5C>A (p.Ala2Glu)
NM_005051.3(QARS1):c.611C>T (p.Ala204Val) rs911977359
NM_005051.3(QARS1):c.623T>C (p.Val208Ala) rs2042480502
NM_005051.3(QARS1):c.695A>G (p.His232Arg) rs2107107384
NM_005051.3(QARS1):c.703+6T>C
NM_005051.3(QARS1):c.722C>T (p.Pro241Leu) rs1553752233
NM_005051.3(QARS1):c.725G>A (p.Gly242Asp)
NM_005051.3(QARS1):c.737C>T (p.Thr246Ile)
NM_005051.3(QARS1):c.769C>A (p.Leu257Met) rs1037854666
NM_005051.3(QARS1):c.790-2_806dup rs1553752165
NM_005051.3(QARS1):c.793C>A (p.Arg265Ser) rs1559968699
NM_005051.3(QARS1):c.793C>T (p.Arg265Cys) rs1559968699
NM_005051.3(QARS1):c.799C>T (p.Arg267Trp)
NM_005051.3(QARS1):c.806C>T (p.Pro269Leu)
NM_005051.3(QARS1):c.815C>G (p.Pro272Arg)
NM_005051.3(QARS1):c.818A>C (p.Asn273Thr)
NM_005051.3(QARS1):c.827T>C (p.Leu276Pro) rs2042468624
NM_005051.3(QARS1):c.832A>G (p.Ile278Val)
NM_005051.3(QARS1):c.833T>C (p.Ile278Thr) rs2107106208
NM_005051.3(QARS1):c.835G>A (p.Gly279Arg) rs2042468435
NM_005051.3(QARS1):c.839A>G (p.His280Arg)
NM_005051.3(QARS1):c.839A>T (p.His280Leu) rs2107106158
NM_005051.3(QARS1):c.862T>C (p.Phe288Leu)
NM_005051.3(QARS1):c.877-9C>G
NM_005051.3(QARS1):c.884A>G (p.Asn295Ser)
NM_005051.3(QARS1):c.889A>G (p.Ile297Val) rs962335441
NM_005051.3(QARS1):c.895T>C (p.Phe299Leu)
NM_005051.3(QARS1):c.905T>C (p.Phe302Ser) rs2107104202
NM_005051.3(QARS1):c.937A>C (p.Lys313Gln) rs746386543
NM_005051.3(QARS1):c.950C>T (p.Ala317Val)
NM_005051.3(QARS1):c.973C>T (p.Leu325=) rs2107103966
NM_005051.3(QARS1):c.977-3C>G rs1333221962
NM_005051.3(QARS1):c.979T>C (p.Tyr327His) rs1435075957
NM_005051.3(QARS1):c.991A>C (p.Lys331Gln)
NM_005051.3(QARS1):c.991A>G (p.Lys331Glu)
NM_005051.3(QARS1):c.992A>G (p.Lys331Arg) rs2107103604

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