ClinVar Miner

List of variants in gene GARS1 reported as uncertain significance for Charcot-Marie-Tooth disease type 2

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Gene type:
ClinVar version:
Total variants: 329
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HGVS dbSNP gnomAD frequency
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) rs369466037 0.00011
NM_002047.4(GARS1):c.1451A>C (p.Lys484Thr) rs528223570 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002047.4(GARS1):c.2065C>G (p.Arg689Gly) rs376308368 0.00006
NM_002047.4(GARS1):c.123C>A (p.Cys41Ter) rs988893052 0.00005
NM_002047.4(GARS1):c.1219G>A (p.Gly407Ser) rs370650205 0.00004
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln) rs200726600 0.00004
NM_002047.4(GARS1):c.1779C>A (p.Phe593Leu) rs372368483 0.00004
NM_002047.4(GARS1):c.1991T>C (p.Ile664Thr) rs1064797334 0.00004
NM_002047.4(GARS1):c.324+3G>A rs372776194 0.00004
NM_002047.4(GARS1):c.3G>T (p.Met1Ile) rs781520666 0.00004
NM_002047.4(GARS1):c.757G>A (p.Glu253Lys) rs760051768 0.00004
NM_002047.4(GARS1):c.782A>G (p.Tyr261Cys) rs780902152 0.00004
NM_002047.4(GARS1):c.163A>G (p.Met55Val) rs900324585 0.00003
NM_002047.4(GARS1):c.1760C>T (p.Thr587Met) rs750292154 0.00003
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920 0.00003
NM_002047.4(GARS1):c.305A>G (p.Lys102Arg) rs369224847 0.00003
NM_002047.4(GARS1):c.52C>A (p.Leu18Met) rs368574634 0.00003
NM_002047.4(GARS1):c.866G>A (p.Gly289Glu) rs1343637666 0.00003
NM_002047.4(GARS1):c.-6A>G rs747409671 0.00002
NM_002047.4(GARS1):c.1108G>C (p.Asp370His) rs769026859 0.00002
NM_002047.4(GARS1):c.112G>A (p.Ala38Thr) rs759499740 0.00002
NM_002047.4(GARS1):c.1138G>A (p.Ala380Thr) rs772145843 0.00002
NM_002047.4(GARS1):c.1359C>T (p.Tyr453=) rs901778260 0.00002
NM_002047.4(GARS1):c.1817G>A (p.Ser606Asn) rs773316961 0.00002
NM_002047.4(GARS1):c.196C>T (p.Pro66Ser) rs776478280 0.00002
NM_002047.4(GARS1):c.271G>A (p.Val91Ile) rs374616031 0.00002
NM_002047.4(GARS1):c.403G>T (p.Asp135Tyr) rs778553007 0.00002
NM_002047.4(GARS1):c.637C>T (p.Arg213Cys) rs769780656 0.00002
NM_002047.4(GARS1):c.1000A>G (p.Ile334Val) rs1554338260 0.00001
NM_002047.4(GARS1):c.101G>A (p.Arg34Gln) rs1189675611 0.00001
NM_002047.4(GARS1):c.1042A>G (p.Met348Val) rs368832379 0.00001
NM_002047.4(GARS1):c.1087C>G (p.Pro363Ala) rs267601479 0.00001
NM_002047.4(GARS1):c.1234C>T (p.Arg412Cys) rs770924455 0.00001
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met) rs746139865 0.00001
NM_002047.4(GARS1):c.125C>T (p.Pro42Leu) rs1316245045 0.00001
NM_002047.4(GARS1):c.1359+1G>A rs868796615 0.00001
NM_002047.4(GARS1):c.1399T>A (p.Tyr467Asn) rs368388267 0.00001
NM_002047.4(GARS1):c.1432G>A (p.Val478Ile) rs1238026762 0.00001
NM_002047.4(GARS1):c.1454C>T (p.Pro485Leu) rs1159290036 0.00001
NM_002047.4(GARS1):c.1487A>G (p.Gln496Arg) rs1325522512 0.00001
NM_002047.4(GARS1):c.1511T>C (p.Ile504Thr) rs762264480 0.00001
NM_002047.4(GARS1):c.1573T>C (p.Cys525Arg) rs752812365 0.00001
NM_002047.4(GARS1):c.1612G>C (p.Gly538Arg) rs1415135637 0.00001
NM_002047.4(GARS1):c.1624A>G (p.Ile542Val) rs1060502837 0.00001
NM_002047.4(GARS1):c.1729C>A (p.Pro577Thr) rs754547488 0.00001
NM_002047.4(GARS1):c.1751T>A (p.Ile584Asn) rs864622616 0.00001
NM_002047.4(GARS1):c.1755G>A (p.Met585Ile) rs780441296 0.00001
NM_002047.4(GARS1):c.1829T>C (p.Val610Ala) rs1554340666 0.00001
NM_002047.4(GARS1):c.1859C>T (p.Pro620Leu) rs892958904 0.00001
NM_002047.4(GARS1):c.186G>C (p.Glu62Asp) rs1554336540 0.00001
NM_002047.4(GARS1):c.1904-3T>A rs775575408 0.00001
NM_002047.4(GARS1):c.1905G>A (p.Ser635=) rs773889809 0.00001
NM_002047.4(GARS1):c.1960A>G (p.Ile654Val) rs1406586832 0.00001
NM_002047.4(GARS1):c.1969C>T (p.Arg657Cys) rs781585447 0.00001
NM_002047.4(GARS1):c.2008G>C (p.Val670Leu) rs376585160 0.00001
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) rs879254346 0.00001
NM_002047.4(GARS1):c.2044C>A (p.His682Asn) rs1437642803 0.00001
NM_002047.4(GARS1):c.208G>C (p.Ala70Pro) rs1008199275 0.00001
NM_002047.4(GARS1):c.2108C>T (p.Pro703Leu) rs1002052289 0.00001
NM_002047.4(GARS1):c.2123A>T (p.Asp708Val) rs776108138 0.00001
NM_002047.4(GARS1):c.2156T>C (p.Val719Ala) rs750501453 0.00001
NM_002047.4(GARS1):c.2177T>C (p.Phe726Ser) rs1397264514 0.00001
NM_002047.4(GARS1):c.227A>G (p.Asp76Gly) rs780858299 0.00001
NM_002047.4(GARS1):c.281C>A (p.Ala94Glu) rs1389930859 0.00001
NM_002047.4(GARS1):c.332C>T (p.Ala111Val) rs370531212 0.00001
NM_002047.4(GARS1):c.352A>G (p.Ile118Val) rs200025018 0.00001
NM_002047.4(GARS1):c.362G>A (p.Arg121Gln) rs1363263798 0.00001
NM_002047.4(GARS1):c.37C>T (p.Arg13Cys) rs1467460367 0.00001
NM_002047.4(GARS1):c.401A>G (p.Tyr134Cys) rs898879117 0.00001
NM_002047.4(GARS1):c.436G>A (p.Gly146Ser) rs1309618721 0.00001
NM_002047.4(GARS1):c.471G>C (p.Leu157Phe) rs367915362 0.00001
NM_002047.4(GARS1):c.478A>G (p.Asn160Asp) rs372198757 0.00001
NM_002047.4(GARS1):c.662A>G (p.His221Arg) rs1279978899 0.00001
NM_002047.4(GARS1):c.668A>G (p.Gln223Arg) rs750901652 0.00001
NM_002047.4(GARS1):c.671A>T (p.Lys224Ile) rs756641901 0.00001
NM_002047.4(GARS1):c.733C>A (p.Gln245Lys) rs756629704 0.00001
NM_002047.4(GARS1):c.737T>G (p.Leu246Arg) rs200437855 0.00001
NM_002047.4(GARS1):c.843G>A (p.Met281Ile) rs545669679 0.00001
NM_002047.4(GARS1):c.855C>G (p.Phe285Leu) rs786204099 0.00001
NM_002047.4(GARS1):c.980G>C (p.Gly327Ala) rs774283805 0.00001
NC_000007.13:g.(?_30634538)_(30673476_?)dup
NC_000007.13:g.(?_30642630)_(30649366_?)del
NC_000007.14:g.(?_30598776)_(30598917_?)del
NC_000007.14:g.(?_30615886)_(30633870_?)dup
NM_002047.4(GARS1):c.*50_*51del rs70983380
NM_002047.4(GARS1):c.*51del rs70983380
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met) rs1303447354
NM_002047.4(GARS1):c.1009C>T (p.Arg337Ter) rs767696937
NM_002047.4(GARS1):c.1010G>A (p.Arg337Gln)
NM_002047.4(GARS1):c.101G>T (p.Arg34Leu)
NM_002047.4(GARS1):c.1031+1G>A rs1554338272
NM_002047.4(GARS1):c.1031+6G>T rs2128134034
NM_002047.4(GARS1):c.1032-6T>C
NM_002047.4(GARS1):c.1046C>T (p.Ala349Val)
NM_002047.4(GARS1):c.104C>G (p.Ser35Cys) rs770934994
NM_002047.4(GARS1):c.104C>T (p.Ser35Phe)
NM_002047.4(GARS1):c.1067A>G (p.Asp356Gly)
NM_002047.4(GARS1):c.1068T>A (p.Asp356Glu) rs1344399581
NM_002047.4(GARS1):c.1088C>G (p.Pro363Arg)
NM_002047.4(GARS1):c.1092G>T (p.Lys364Asn) rs1357360844
NM_002047.4(GARS1):c.1109A>G (p.Asp370Gly)
NM_002047.4(GARS1):c.110G>A (p.Ser37Asn) rs2128131936
NM_002047.4(GARS1):c.110del (p.Ser37fs) rs1284420601
NM_002047.4(GARS1):c.1154A>G (p.Gln385Arg) rs2128134481
NM_002047.4(GARS1):c.1155G>C (p.Gln385His) rs1584038245
NM_002047.4(GARS1):c.1162C>G (p.Arg388Gly) rs759277467
NM_002047.4(GARS1):c.1162C>T (p.Arg388Trp) rs759277467
NM_002047.4(GARS1):c.1168A>G (p.Met390Val)
NM_002047.4(GARS1):c.1169T>C (p.Met390Thr)
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser) rs370057212
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1172G>T (p.Arg391Leu)
NM_002047.4(GARS1):c.1181A>G (p.Asp394Gly) rs1278294610
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) rs1060502836
NM_002047.4(GARS1):c.1198G>A (p.Val400Met) rs1782903666
NM_002047.4(GARS1):c.11C>G (p.Pro4Arg)
NM_002047.4(GARS1):c.1208A>G (p.Asn403Ser) rs1000458033
NM_002047.4(GARS1):c.1210A>C (p.Thr404Pro)
NM_002047.4(GARS1):c.1225T>G (p.Phe409Val) rs1782904125
NM_002047.4(GARS1):c.1227C>A (p.Phe409Leu) rs1241301935
NM_002047.4(GARS1):c.1235G>A (p.Arg412His)
NM_002047.4(GARS1):c.1237A>G (p.Ile413Val)
NM_002047.4(GARS1):c.1264A>C (p.Ile422Leu)
NM_002047.4(GARS1):c.1264A>G (p.Ile422Val)
NM_002047.4(GARS1):c.1282C>T (p.Arg428Cys) rs951085877
NM_002047.4(GARS1):c.1283G>T (p.Arg428Leu) rs1203971547
NM_002047.4(GARS1):c.1289G>A (p.Arg430Gln) rs1430190191
NM_002047.4(GARS1):c.128C>G (p.Pro43Arg) rs570608946
NM_002047.4(GARS1):c.1291C>A (p.Gln431Lys) rs375133923
NM_002047.4(GARS1):c.1297A>C (p.Met433Leu)
NM_002047.4(GARS1):c.1312G>A (p.Ala438Thr)
NM_002047.4(GARS1):c.1315C>T (p.His439Tyr) rs1782906838
NM_002047.4(GARS1):c.131T>G (p.Ile44Ser) rs1791215308
NM_002047.4(GARS1):c.1337A>T (p.Asp446Val) rs1554338834
NM_002047.4(GARS1):c.1348A>G (p.Lys450Glu)
NM_002047.4(GARS1):c.1359+3A>G
NM_002047.4(GARS1):c.1375G>A (p.Val459Ile)
NM_002047.4(GARS1):c.1379G>C (p.Gly460Ala) rs924595179
NM_002047.4(GARS1):c.1381T>C (p.Cys461Arg)
NM_002047.4(GARS1):c.1387G>T (p.Asp463Tyr) rs1554339284
NM_002047.4(GARS1):c.1391_1407del (p.Arg464fs) rs2128135088
NM_002047.4(GARS1):c.1396T>C (p.Cys466Arg) rs2128135092
NM_002047.4(GARS1):c.1397G>A (p.Cys466Tyr)
NM_002047.4(GARS1):c.1397G>T (p.Cys466Phe) rs756498678
NM_002047.4(GARS1):c.1400A>T (p.Tyr467Phe)
NM_002047.4(GARS1):c.1409C>G (p.Ser470Cys)
NM_002047.4(GARS1):c.140C>T (p.Pro47Leu)
NM_002047.4(GARS1):c.1411T>A (p.Cys471Ser)
NM_002047.4(GARS1):c.1420C>G (p.Arg474Gly)
NM_002047.4(GARS1):c.1420C>T (p.Arg474Ter)
NM_002047.4(GARS1):c.1421G>A (p.Arg474Gln) rs1345590827
NM_002047.4(GARS1):c.1433T>A (p.Val478Asp) rs2128135103
NM_002047.4(GARS1):c.1445C>G (p.Ala482Gly)
NM_002047.4(GARS1):c.1447G>A (p.Glu483Lys)
NM_002047.4(GARS1):c.1454C>G (p.Pro485Arg)
NM_002047.4(GARS1):c.145G>C (p.Ala49Pro)
NM_002047.4(GARS1):c.1490T>G (p.Phe497Cys)
NM_002047.4(GARS1):c.1499G>C (p.Ser500Thr)
NM_002047.4(GARS1):c.1510A>G (p.Ile504Val)
NM_002047.4(GARS1):c.1531G>C (p.Asp511His)
NM_002047.4(GARS1):c.154C>G (p.Arg52Gly)
NM_002047.4(GARS1):c.1568A>T (p.Asp523Val) rs779225125
NM_002047.4(GARS1):c.1574G>A (p.Cys525Tyr) rs758225567
NM_002047.4(GARS1):c.1592A>C (p.Glu531Ala) rs1783032476
NM_002047.4(GARS1):c.1592A>G (p.Glu531Gly)
NM_002047.4(GARS1):c.1613+3A>G
NM_002047.4(GARS1):c.1614-13T>A
NM_002047.4(GARS1):c.1622C>G (p.Thr541Arg) rs745739050
NM_002047.4(GARS1):c.1625T>C (p.Ile542Thr)
NM_002047.4(GARS1):c.1646T>C (p.Phe549Ser)
NM_002047.4(GARS1):c.164T>C (p.Met55Thr)
NM_002047.4(GARS1):c.1657A>G (p.Lys553Glu) rs1783125497
NM_002047.4(GARS1):c.1675A>G (p.Lys559Glu)
NM_002047.4(GARS1):c.1697A>G (p.Tyr566Cys)
NM_002047.4(GARS1):c.1699+6T>A rs1362621582
NM_002047.4(GARS1):c.1700-1G>A rs1584051498
NM_002047.4(GARS1):c.170_171delinsAT (p.Gly57Asp)
NM_002047.4(GARS1):c.1719T>G (p.Asn573Lys) rs1242186885
NM_002047.4(GARS1):c.1720G>A (p.Val574Ile)
NM_002047.4(GARS1):c.172G>C (p.Ala58Pro)
NM_002047.4(GARS1):c.1734del (p.Phe579fs)
NM_002047.4(GARS1):c.1744_1745delinsAA (p.Gly582Asn)
NM_002047.4(GARS1):c.1745G>A (p.Gly582Asp) rs2128135873
NM_002047.4(GARS1):c.1786C>T (p.Arg596Ter)
NM_002047.4(GARS1):c.1790_1792del (p.Glu597del) rs879254345
NM_002047.4(GARS1):c.17C>T (p.Pro6Leu)
NM_002047.4(GARS1):c.1802A>G (p.Gln601Arg)
NM_002047.4(GARS1):c.1805G>A (p.Arg602Lys)
NM_002047.4(GARS1):c.1809+1G>A rs1554340340
NM_002047.4(GARS1):c.1810-2A>T
NM_002047.4(GARS1):c.1810T>G (p.Phe604Val)
NM_002047.4(GARS1):c.1817G>C (p.Ser606Thr)
NM_002047.4(GARS1):c.1835C>T (p.Ala612Val)
NM_002047.4(GARS1):c.1850C>A (p.Ser617Tyr) rs765235116
NM_002047.4(GARS1):c.1885C>G (p.Pro629Ala)
NM_002047.4(GARS1):c.1902A>G (p.Leu634=) rs2128136213
NM_002047.4(GARS1):c.1903+16T>A
NM_002047.4(GARS1):c.1903+4_1903+67dup
NM_002047.4(GARS1):c.190_192dup (p.Leu64dup) rs1562769487
NM_002047.4(GARS1):c.1918A>G (p.Arg640Gly)
NM_002047.4(GARS1):c.1927G>A (p.Val643Ile) rs1554340789
NM_002047.4(GARS1):c.1933C>T (p.His645Tyr)
NM_002047.4(GARS1):c.1943A>G (p.Asp648Gly)
NM_002047.4(GARS1):c.194C>A (p.Ala65Glu)
NM_002047.4(GARS1):c.194C>T (p.Ala65Val) rs1179352387
NM_002047.4(GARS1):c.1970G>A (p.Arg657His)
NM_002047.4(GARS1):c.197C>G (p.Pro66Arg)
NM_002047.4(GARS1):c.1981A>G (p.Thr661Ala) rs1783252231
NM_002047.4(GARS1):c.1A>T (p.Met1Leu) rs1345458433
NM_002047.4(GARS1):c.2005G>A (p.Gly669Ser)
NM_002047.4(GARS1):c.2014A>G (p.Ile672Val) rs1562784262
NM_002047.4(GARS1):c.2015T>C (p.Ile672Thr) rs1554340824
NM_002047.4(GARS1):c.2029G>C (p.Val677Leu) rs2128136305
NM_002047.4(GARS1):c.2037del (p.Thr680fs)
NM_002047.4(GARS1):c.2047A>G (p.Thr683Ala)
NM_002047.4(GARS1):c.2062G>C (p.Asp688His)
NM_002047.4(GARS1):c.2065C>T (p.Arg689Cys) rs376308368
NM_002047.4(GARS1):c.2073_2074del (p.Met692fs)
NM_002047.4(GARS1):c.2077C>T (p.Arg693Trp)
NM_002047.4(GARS1):c.2078G>A (p.Arg693Gln)
NM_002047.4(GARS1):c.2110A>G (p.Ser704Gly)
NM_002047.4(GARS1):c.2121A>C (p.Gln707His) rs1554340999
NM_002047.4(GARS1):c.212T>C (p.Val71Ala)
NM_002047.4(GARS1):c.2153A>G (p.Asp718Gly)
NM_002047.4(GARS1):c.2159A>T (p.Glu720Val)
NM_002047.4(GARS1):c.2165_2169del (p.Arg722fs)
NM_002047.4(GARS1):c.2173C>G (p.Leu725Val)
NM_002047.4(GARS1):c.2182G>A (p.Gly728Arg) rs1422434626
NM_002047.4(GARS1):c.2188G>C (p.Glu730Gln) rs1783283131
NM_002047.4(GARS1):c.218A>T (p.Gln73Leu)
NM_002047.4(GARS1):c.2193T>A (p.Thr731=)
NM_002047.4(GARS1):c.2198A>T (p.Lys733Ile)
NM_002047.4(GARS1):c.2206A>G (p.Thr736Ala) rs1785775131
NM_002047.4(GARS1):c.2209A>G (p.Ile737Val)
NM_002047.4(GARS1):c.2218T>A (p.Ter740Arg)
NM_002047.4(GARS1):c.222+6G>A
NM_002047.4(GARS1):c.2220A>C (p.Ter740Cys) rs1783284502
NM_002047.4(GARS1):c.235C>T (p.Arg79Ter) rs1479788149
NM_002047.4(GARS1):c.250G>A (p.Asp84Asn) rs2128132417
NM_002047.4(GARS1):c.263A>G (p.Gln88Arg)
NM_002047.4(GARS1):c.28A>G (p.Arg10Gly)
NM_002047.4(GARS1):c.309G>C (p.Arg103Ser) rs768571328
NM_002047.4(GARS1):c.311T>C (p.Val104Ala)
NM_002047.4(GARS1):c.313C>G (p.Leu105Val) rs1791317535
NM_002047.4(GARS1):c.324G>A (p.Lys108=)
NM_002047.4(GARS1):c.325-2A>G
NM_002047.4(GARS1):c.325G>A (p.Glu109Lys) rs1036198120
NM_002047.4(GARS1):c.344A>G (p.Lys115Arg) rs1554336991
NM_002047.4(GARS1):c.348T>G (p.Asp116Glu) rs2128132552
NM_002047.4(GARS1):c.349G>A (p.Asp117Asn)
NM_002047.4(GARS1):c.34G>A (p.Ala12Thr) rs1584017035
NM_002047.4(GARS1):c.350A>G (p.Asp117Gly)
NM_002047.4(GARS1):c.353T>C (p.Ile118Thr) rs1791340048
NM_002047.4(GARS1):c.373G>C (p.Glu125Gln) rs797044855
NM_002047.4(GARS1):c.376G>A (p.Asp126Asn)
NM_002047.4(GARS1):c.377A>T (p.Asp126Val) rs766540026
NM_002047.4(GARS1):c.38_39delinsCT (p.Arg13Pro) rs1554336495
NM_002047.4(GARS1):c.3G>A (p.Met1Ile) rs781520666
NM_002047.4(GARS1):c.406C>A (p.Gln136Lys) rs2128132565
NM_002047.4(GARS1):c.418A>C (p.Ile140Leu) rs888805042
NM_002047.4(GARS1):c.418A>G (p.Ile140Val)
NM_002047.4(GARS1):c.427G>A (p.Gly143Ser) rs1584022929
NM_002047.4(GARS1):c.446A>G (p.Asp149Gly) rs1791365947
NM_002047.4(GARS1):c.450T>A (p.Phe150Leu) rs751505742
NM_002047.4(GARS1):c.463T>A (p.Cys155Ser)
NM_002047.4(GARS1):c.47TGC[6] (p.Leu20dup) rs150213018
NM_002047.4(GARS1):c.47TGC[7] (p.Leu19_Leu20dup) rs150213018
NM_002047.4(GARS1):c.516_517delinsTA (p.Glu172_Glu173delinsAspLys) rs2128132720
NM_002047.4(GARS1):c.529G>C (p.Glu177Gln)
NM_002047.4(GARS1):c.532A>G (p.Ile178Val) rs1791369066
NM_002047.4(GARS1):c.534C>G (p.Ile178Met) rs774732829
NM_002047.4(GARS1):c.535G>A (p.Asp179Asn)
NM_002047.4(GARS1):c.542C>T (p.Thr181Ile) rs1425456318
NM_002047.4(GARS1):c.551C>T (p.Thr184Ile)
NM_002047.4(GARS1):c.570-8T>G
NM_002047.4(GARS1):c.575C>G (p.Ser192Cys)
NM_002047.4(GARS1):c.578G>A (p.Gly193Asp) rs1791411808
NM_002047.4(GARS1):c.5C>T (p.Pro2Leu)
NM_002047.4(GARS1):c.614A>T (p.Asp205Val) rs2128132956
NM_002047.4(GARS1):c.614_615delinsTA (p.Asp205Val) rs2128132958
NM_002047.4(GARS1):c.616G>A (p.Val206Ile) rs1584026136
NM_002047.4(GARS1):c.628G>T (p.Glu210Ter) rs1791412752
NM_002047.4(GARS1):c.638G>A (p.Arg213His) rs780116880
NM_002047.4(GARS1):c.641C>A (p.Ala214Asp)
NM_002047.4(GARS1):c.646C>T (p.His216Tyr)
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002047.4(GARS1):c.656A>C (p.Lys219Thr)
NM_002047.4(GARS1):c.658+3G>T
NM_002047.4(GARS1):c.659-14C>G
NM_002047.4(GARS1):c.659-3del rs1791421299
NM_002047.4(GARS1):c.659C>A (p.Ala220Asp)
NM_002047.4(GARS1):c.683A>C (p.Asp228Ala) rs1791422443
NM_002047.4(GARS1):c.685AAG[1] (p.Lys230del)
NM_002047.4(GARS1):c.689A>G (p.Lys230Arg)
NM_002047.4(GARS1):c.691T>G (p.Cys231Gly) rs1584026626
NM_002047.4(GARS1):c.694del (p.Ser232fs) rs1791422813
NM_002047.4(GARS1):c.695C>T (p.Ser232Phe)
NM_002047.4(GARS1):c.701A>G (p.Glu234Gly)
NM_002047.4(GARS1):c.705G>T (p.Lys235Asn) rs759012168
NM_002047.4(GARS1):c.710C>A (p.Ser237Ter) rs2128133017
NM_002047.4(GARS1):c.719A>C (p.Glu240Ala) rs1791423440
NM_002047.4(GARS1):c.719A>T (p.Glu240Val) rs1791423440
NM_002047.4(GARS1):c.722G>C (p.Ser241Thr) rs775140242
NM_002047.4(GARS1):c.751C>G (p.Gln251Glu)
NM_002047.4(GARS1):c.764C>A (p.Ala255Glu) rs765478968
NM_002047.4(GARS1):c.764C>G (p.Ala255Gly)
NM_002047.4(GARS1):c.770T>A (p.Leu257His)
NM_002047.4(GARS1):c.790_792del (p.Lys264del) rs1791556326
NM_002047.4(GARS1):c.801T>G (p.Ile267Met)
NM_002047.4(GARS1):c.80G>A (p.Arg27Gln)
NM_002047.4(GARS1):c.818C>T (p.Ser273Phe) rs1554337983
NM_002047.4(GARS1):c.835A>G (p.Asn279Asp)
NM_002047.4(GARS1):c.837C>A (p.Asn279Lys)
NM_002047.4(GARS1):c.842T>A (p.Met281Lys) rs1791558334
NM_002047.4(GARS1):c.857T>C (p.Ile286Thr)
NM_002047.4(GARS1):c.86C>T (p.Ser29Leu)
NM_002047.4(GARS1):c.878C>T (p.Pro293Leu)
NM_002047.4(GARS1):c.883T>A (p.Tyr295Asn) rs1782769087
NM_002047.4(GARS1):c.884dup (p.Tyr295Ter)
NM_002047.4(GARS1):c.895G>C (p.Glu299Gln)
NM_002047.4(GARS1):c.8C>A (p.Ser3Tyr) rs1184401493
NM_002047.4(GARS1):c.93_94delinsCG (p.Leu32Val)
NM_002047.4(GARS1):c.944A>G (p.Asn315Ser)
NM_002047.4(GARS1):c.953A>T (p.Lys318Met) rs2128134017
NM_002047.4(GARS1):c.968C>T (p.Ala323Val) rs2128134021
NM_002047.4(GARS1):c.974A>T (p.Gln325Leu)
NM_002047.4(GARS1):c.979G>C (p.Gly327Arg) rs1584034430
NM_002047.4(GARS1):c.982A>G (p.Asn328Asp)

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