ClinVar Miner

List of variants in gene AARS1 reported as likely benign for Charcot-Marie-Tooth disease type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 552
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_001605.3(AARS1):c.600C>T (p.Ala200=) rs150080663 0.00056
NM_001605.3(AARS1):c.2178-14G>A rs371633904 0.00045
NM_001605.3(AARS1):c.2722-16C>T rs373540049 0.00040
NM_001605.3(AARS1):c.480-9C>T rs376371821 0.00034
NM_001605.3(AARS1):c.966T>C (p.Tyr322=) rs145859060 0.00034
NM_001605.3(AARS1):c.2222C>T (p.Thr741Met) rs148383122 0.00030
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr) rs147187788 0.00030
NM_001605.3(AARS1):c.1839C>T (p.Phe613=) rs141374386 0.00024
NM_001605.3(AARS1):c.2217C>T (p.Ile739=) rs770980206 0.00022
NM_001605.3(AARS1):c.2275G>A (p.Glu759Lys) rs137894161 0.00022
NM_001605.3(AARS1):c.2721+8C>T rs577958349 0.00021
NM_001605.3(AARS1):c.2520+19A>G rs376619331 0.00020
NM_001605.3(AARS1):c.1493-7T>C rs376087556 0.00019
NM_001605.3(AARS1):c.2817G>A (p.Gln939=) rs140048586 0.00019
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser) rs140135726 0.00018
NM_001605.3(AARS1):c.2521-10T>C rs199521984 0.00016
NM_001605.3(AARS1):c.480-8T>C rs751472610 0.00016
NM_001605.3(AARS1):c.128A>G (p.Asn43Ser) rs748803390 0.00014
NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu) rs150873930 0.00013
NM_001605.3(AARS1):c.2287-16C>T rs375747367 0.00013
NM_001605.3(AARS1):c.385C>G (p.Pro129Ala) rs370622071 0.00013
NM_001605.3(AARS1):c.480-17C>T rs372467445 0.00013
NM_001605.3(AARS1):c.1671+10C>T rs184240527 0.00012
NM_001605.3(AARS1):c.962+12G>C rs376863001 0.00012
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234 0.00010
NM_001605.3(AARS1):c.1740C>T (p.Tyr580=) rs777419181 0.00010
NM_001605.3(AARS1):c.2730C>T (p.Ala910=) rs199839663 0.00010
NM_001605.3(AARS1):c.962+16A>G rs768846274 0.00010
NM_001605.3(AARS1):c.2182C>T (p.Leu728=) rs761565869 0.00009
NM_001605.3(AARS1):c.2401-16C>T rs372138128 0.00009
NM_001605.3(AARS1):c.2770T>G (p.Ser924Ala) rs766897796 0.00009
NM_001605.3(AARS1):c.525C>T (p.Phe175=) rs369147317 0.00009
NM_001605.3(AARS1):c.1222+7A>T rs200591546 0.00008
NM_001605.3(AARS1):c.1222+7_1222+8insTTGC rs372280293 0.00008
NM_001605.3(AARS1):c.1405G>A (p.Ala469Thr) rs141486562 0.00008
NM_001605.3(AARS1):c.1722A>G (p.Leu574=) rs140678149 0.00008
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe) rs527414180 0.00007
NM_001605.3(AARS1):c.1140G>A (p.Val380=) rs149055899 0.00007
NM_001605.3(AARS1):c.1671+7C>T rs747794570 0.00007
NM_001605.3(AARS1):c.1689G>A (p.Val563=) rs536370318 0.00007
NM_001605.3(AARS1):c.2286+18G>A rs780996918 0.00007
NM_001605.3(AARS1):c.58A>G (p.Arg20Gly) rs770697148 0.00007
NM_001605.3(AARS1):c.1344C>T (p.Ala448=) rs920455151 0.00006
NM_001605.3(AARS1):c.1546G>C (p.Val516Leu) rs143844046 0.00006
NM_001605.3(AARS1):c.1878C>T (p.Gly626=) rs752673097 0.00006
NM_001605.3(AARS1):c.1996G>A (p.Val666Ile) rs374254987 0.00006
NM_001605.3(AARS1):c.2028G>A (p.Ala676=) rs376280288 0.00006
NM_001605.3(AARS1):c.479+12C>T rs201596086 0.00006
NM_001605.3(AARS1):c.597C>T (p.Asp199=) rs371595834 0.00006
NM_001605.3(AARS1):c.865G>A (p.Asp289Asn) rs764718265 0.00006
NM_001605.3(AARS1):c.951C>T (p.Asn317=) rs763632935 0.00006
NM_001605.3(AARS1):c.1395G>A (p.Leu465=) rs890095859 0.00005
NM_001605.3(AARS1):c.177A>G (p.Pro59=) rs758674184 0.00005
NM_001605.3(AARS1):c.2025A>G (p.Ala675=) rs745695764 0.00005
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) rs142850278 0.00005
NM_001605.3(AARS1):c.2223G>A (p.Thr741=) rs375400530 0.00005
NM_001605.3(AARS1):c.894G>A (p.Leu298=) rs776027503 0.00005
NM_001605.3(AARS1):c.1361G>T (p.Gly454Val) rs761208550 0.00004
NM_001605.3(AARS1):c.145-17C>T rs375832841 0.00004
NM_001605.3(AARS1):c.1992+15G>A rs368023282 0.00004
NM_001605.3(AARS1):c.2532G>A (p.Lys844=) rs371712914 0.00004
NM_001605.3(AARS1):c.849T>C (p.Val283=) rs773866431 0.00004
NM_001605.3(AARS1):c.1060G>A (p.Val354Ile) rs762395098 0.00003
NM_001605.3(AARS1):c.1219C>A (p.Pro407Thr) rs139618202 0.00003
NM_001605.3(AARS1):c.1221C>T (p.Pro407=) rs199547987 0.00003
NM_001605.3(AARS1):c.1275T>C (p.Thr425=) rs750552137 0.00003
NM_001605.3(AARS1):c.1348-9T>C rs201538906 0.00003
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile) rs771059047 0.00003
NM_001605.3(AARS1):c.2046A>G (p.Leu682=) rs757898507 0.00003
NM_001605.3(AARS1):c.2193G>C (p.Ser731=) rs746349849 0.00003
NM_001605.3(AARS1):c.2306G>C (p.Ser769Thr) rs377051192 0.00003
NM_001605.3(AARS1):c.2485T>C (p.Leu829=) rs760816488 0.00003
NM_001605.3(AARS1):c.2722-12C>T rs781277357 0.00003
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser) rs746822330 0.00003
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly) rs765398055 0.00003
NM_001605.3(AARS1):c.145-4T>G rs771322532 0.00002
NM_001605.3(AARS1):c.1704C>T (p.Val568=) rs757658801 0.00002
NM_001605.3(AARS1):c.1881A>G (p.Ser627=) rs1486965038 0.00002
NM_001605.3(AARS1):c.2070T>C (p.Tyr690=) rs754266971 0.00002
NM_001605.3(AARS1):c.2178-17T>C rs758490328 0.00002
NM_001605.3(AARS1):c.2361A>C (p.Pro787=) rs768782095 0.00002
NM_001605.3(AARS1):c.2401-15G>A rs763386228 0.00002
NM_001605.3(AARS1):c.2505C>T (p.Ala835=) rs769571173 0.00002
NM_001605.3(AARS1):c.2547C>T (p.Ile849=) rs746615745 0.00002
NM_001605.3(AARS1):c.2593G>A (p.Gly865Ser) rs757295540 0.00002
NM_001605.3(AARS1):c.2603C>T (p.Ala868Val) rs759415214 0.00002
NM_001605.3(AARS1):c.2754G>A (p.Glu918=) rs754523456 0.00002
NM_001605.3(AARS1):c.333+17A>G rs370831078 0.00002
NM_001605.3(AARS1):c.360A>G (p.Glu120=) rs1175499706 0.00002
NM_001605.3(AARS1):c.366C>T (p.Leu122=) rs769023747 0.00002
NM_001605.3(AARS1):c.618G>T (p.Gln206His) rs139785247 0.00002
NM_001605.3(AARS1):c.630T>C (p.Asn210=) rs561149621 0.00002
NM_001605.3(AARS1):c.671+12T>C rs375862322 0.00002
NM_001605.3(AARS1):c.732G>A (p.Leu244=) rs967485459 0.00002
NM_001605.3(AARS1):c.817-7T>C rs770186013 0.00002
NM_001605.3(AARS1):c.823G>A (p.Gly275Ser) rs747142680 0.00002
NM_001605.3(AARS1):c.828C>G (p.Ala276=) rs914414911 0.00002
NM_001605.3(AARS1):c.84G>A (p.Ser28=) rs781488034 0.00002
NM_001605.3(AARS1):c.95T>C (p.Ile32Thr) rs751721557 0.00002
NM_001605.3(AARS1):c.1002C>T (p.Tyr334=) rs753317193 0.00001
NM_001605.3(AARS1):c.1008T>C (p.His336=) rs1374423400 0.00001
NM_001605.3(AARS1):c.1059C>T (p.Val353=) rs1054385792 0.00001
NM_001605.3(AARS1):c.1230T>C (p.Thr410=) rs748544878 0.00001
NM_001605.3(AARS1):c.1284T>A (p.Ile428=) rs1210163050 0.00001
NM_001605.3(AARS1):c.1302G>A (p.Leu434=) rs752566988 0.00001
NM_001605.3(AARS1):c.1306G>A (p.Val436Ile) rs561137479 0.00001
NM_001605.3(AARS1):c.1347+10T>C rs1424574012 0.00001
NM_001605.3(AARS1):c.1398C>T (p.Asp466=) rs770132954 0.00001
NM_001605.3(AARS1):c.1419C>G (p.Leu473=) rs375571275 0.00001
NM_001605.3(AARS1):c.1437G>A (p.Glu479=) rs751074806 0.00001
NM_001605.3(AARS1):c.1493-10C>T rs529835734 0.00001
NM_001605.3(AARS1):c.1533G>A (p.Arg511=) rs375230340 0.00001
NM_001605.3(AARS1):c.1536G>A (p.Glu512=) rs774309980 0.00001
NM_001605.3(AARS1):c.1554G>A (p.Glu518=) rs746835558 0.00001
NM_001605.3(AARS1):c.1578A>G (p.Gly526=) rs376138540 0.00001
NM_001605.3(AARS1):c.1650G>A (p.Lys550=) rs770856423 0.00001
NM_001605.3(AARS1):c.1672-10C>T rs1245852151 0.00001
NM_001605.3(AARS1):c.1672-5C>T rs371238822 0.00001
NM_001605.3(AARS1):c.1672-7C>G rs1294076779 0.00001
NM_001605.3(AARS1):c.1785+16G>C rs375451856 0.00001
NM_001605.3(AARS1):c.1882T>C (p.Leu628=) rs200896501 0.00001
NM_001605.3(AARS1):c.1962G>A (p.Glu654=) rs1291557995 0.00001
NM_001605.3(AARS1):c.1992+11C>T rs756739953 0.00001
NM_001605.3(AARS1):c.1992+14C>T rs945873486 0.00001
NM_001605.3(AARS1):c.1993-9G>C rs1410746723 0.00001
NM_001605.3(AARS1):c.1995C>T (p.Ala665=) rs754212203 0.00001
NM_001605.3(AARS1):c.2017C>T (p.Leu673=) rs762839576 0.00001
NM_001605.3(AARS1):c.2019G>C (p.Leu673=) rs775476419 0.00001
NM_001605.3(AARS1):c.2079T>C (p.Pro693=) rs766834986 0.00001
NM_001605.3(AARS1):c.2103C>T (p.Val701=) rs1476539357 0.00001
NM_001605.3(AARS1):c.2106G>A (p.Pro702=) rs746709009 0.00001
NM_001605.3(AARS1):c.2109G>C (p.Val703=) rs777499923 0.00001
NM_001605.3(AARS1):c.2112C>T (p.Ser704=) rs936240936 0.00001
NM_001605.3(AARS1):c.2119C>T (p.Leu707=) rs1597435214 0.00001
NM_001605.3(AARS1):c.2130C>T (p.Pro710=) rs780604407 0.00001
NM_001605.3(AARS1):c.2154T>G (p.Thr718=) rs1410315443 0.00001
NM_001605.3(AARS1):c.2178-7C>T rs773114681 0.00001
NM_001605.3(AARS1):c.2191T>G (p.Ser731Ala) rs139720461 0.00001
NM_001605.3(AARS1):c.2199T>C (p.His733=) rs781647738 0.00001
NM_001605.3(AARS1):c.2238C>T (p.Ala746=) rs767405300 0.00001
NM_001605.3(AARS1):c.2326G>C (p.Val776Leu) rs373664027 0.00001
NM_001605.3(AARS1):c.2385C>T (p.Ile795=) rs1283711323 0.00001
NM_001605.3(AARS1):c.2400+8C>T rs113824201 0.00001
NM_001605.3(AARS1):c.2401-17T>C rs1200891254 0.00001
NM_001605.3(AARS1):c.2403C>G (p.Ala801=) rs771133578 0.00001
NM_001605.3(AARS1):c.2409C>T (p.Ala803=) rs1329271301 0.00001
NM_001605.3(AARS1):c.2412T>C (p.Thr804=) rs761717573 0.00001
NM_001605.3(AARS1):c.2521-5T>G rs1555539335 0.00001
NM_001605.3(AARS1):c.2535G>A (p.Thr845=) rs770634653 0.00001
NM_001605.3(AARS1):c.2608-17C>T rs955702969 0.00001
NM_001605.3(AARS1):c.2611C>T (p.Leu871=) rs777889928 0.00001
NM_001605.3(AARS1):c.2835T>C (p.Val945=) rs1192286853 0.00001
NM_001605.3(AARS1):c.288C>T (p.Thr96=) rs1373682530 0.00001
NM_001605.3(AARS1):c.417C>T (p.Gly139=) rs758260278 0.00001
NM_001605.3(AARS1):c.498C>T (p.Ile166=) rs999924082 0.00001
NM_001605.3(AARS1):c.540C>T (p.Asp180=) rs1486931495 0.00001
NM_001605.3(AARS1):c.549C>G (p.Pro183=) rs749065539 0.00001
NM_001605.3(AARS1):c.576C>T (p.Tyr192=) rs930696946 0.00001
NM_001605.3(AARS1):c.634C>T (p.Leu212=) rs777378111 0.00001
NM_001605.3(AARS1):c.63C>T (p.Asn21=) rs773045737 0.00001
NM_001605.3(AARS1):c.642C>A (p.Ile214=) rs758977241 0.00001
NM_001605.3(AARS1):c.72G>A (p.Thr24=) rs780609058 0.00001
NM_001605.3(AARS1):c.751C>T (p.Leu251=) rs375106256 0.00001
NM_001605.3(AARS1):c.816+10C>G rs780413612 0.00001
NM_001605.3(AARS1):c.817-20C>T rs761335139 0.00001
NM_001605.3(AARS1):c.817-4A>G rs746210439 0.00001
NM_001605.3(AARS1):c.81C>T (p.His27=) rs750765656 0.00001
NM_001605.3(AARS1):c.837C>T (p.Tyr279=) rs201865481 0.00001
NM_001605.3(AARS1):c.864C>T (p.Ala288=) rs765247500 0.00001
NM_001605.3(AARS1):c.919G>A (p.Val307Met) rs1316227824 0.00001
NM_001605.3(AARS1):c.957G>A (p.Gly319=) rs762546700 0.00001
NM_001605.3(AARS1):c.962+15C>T rs779150762 0.00001
NM_001605.3(AARS1):c.963-6T>C rs768897279 0.00001
NM_001605.3(AARS1):c.9T>G (p.Ser3=) rs539360231 0.00001
NM_001605.3(AARS1):c.100T>C (p.Leu34=)
NM_001605.3(AARS1):c.1035C>T (p.Phe345=)
NM_001605.3(AARS1):c.1041T>C (p.Ala347=)
NM_001605.3(AARS1):c.1044G>A (p.Thr348=) rs181264712
NM_001605.3(AARS1):c.1050G>A (p.Val350=)
NM_001605.3(AARS1):c.105T>C (p.Asp35=)
NM_001605.3(AARS1):c.1068C>G (p.Ser356=)
NM_001605.3(AARS1):c.1071+15C>A rs1310673800
NM_001605.3(AARS1):c.1071+15C>T
NM_001605.3(AARS1):c.1072-10C>A
NM_001605.3(AARS1):c.1072-10C>T
NM_001605.3(AARS1):c.1072-12C>T
NM_001605.3(AARS1):c.1072-15C>A
NM_001605.3(AARS1):c.1072-16G>A
NM_001605.3(AARS1):c.1072-18T>C
NM_001605.3(AARS1):c.1074A>C (p.Gly358=)
NM_001605.3(AARS1):c.1074A>T (p.Gly358=) rs1555541137
NM_001605.3(AARS1):c.1083T>C (p.Phe361=) rs2152160273
NM_001605.3(AARS1):c.108C>T (p.Asp36=)
NM_001605.3(AARS1):c.1122C>T (p.Ile374=) rs752057589
NM_001605.3(AARS1):c.1125T>C (p.Ile375=)
NM_001605.3(AARS1):c.1143G>A (p.Gln381=) rs778064460
NM_001605.3(AARS1):c.1149C>G (p.Leu383=)
NM_001605.3(AARS1):c.1155T>G (p.Thr385=)
NM_001605.3(AARS1):c.1167G>T (p.Gly389=) rs1960296503
NM_001605.3(AARS1):c.1171C>A (p.Arg391Ser)
NM_001605.3(AARS1):c.117G>A (p.Leu39=)
NM_001605.3(AARS1):c.1192C>G (p.Gln398Glu)
NM_001605.3(AARS1):c.1197C>T (p.Ser399=)
NM_001605.3(AARS1):c.1200G>T (p.Leu400=)
NM_001605.3(AARS1):c.1206C>T (p.Asp402=)
NM_001605.3(AARS1):c.1209C>T (p.Ser403=) rs769521539
NM_001605.3(AARS1):c.120C>T (p.Leu40=) rs2152170372
NM_001605.3(AARS1):c.1215C>T (p.Thr405=)
NM_001605.3(AARS1):c.1222+17G>A rs755205317
NM_001605.3(AARS1):c.1222+18C>T
NM_001605.3(AARS1):c.1222+19C>T
NM_001605.3(AARS1):c.1222+7A>G rs200591546
NM_001605.3(AARS1):c.1223-12T>C
NM_001605.3(AARS1):c.1223-15C>T
NM_001605.3(AARS1):c.1223-18C>T
NM_001605.3(AARS1):c.1223-9G>T rs2152158800
NM_001605.3(AARS1):c.1227C>T (p.Asp409=)
NM_001605.3(AARS1):c.1233T>C (p.Ala411=)
NM_001605.3(AARS1):c.1251C>G (p.Thr417=)
NM_001605.3(AARS1):c.1254T>C (p.Tyr418=)
NM_001605.3(AARS1):c.1263A>G (p.Pro421=) rs756280590
NM_001605.3(AARS1):c.126C>G (p.Ala42=)
NM_001605.3(AARS1):c.1272G>A (p.Leu424=) rs1412346348
NM_001605.3(AARS1):c.1299C>T (p.Gly433=)
NM_001605.3(AARS1):c.129T>C (p.Asn43=)
NM_001605.3(AARS1):c.1302G>C (p.Leu434=)
NM_001605.3(AARS1):c.1305G>T (p.Val435=)
NM_001605.3(AARS1):c.1347+10T>A
NM_001605.3(AARS1):c.1347+13G>C
NM_001605.3(AARS1):c.1347+16A>G
NM_001605.3(AARS1):c.1347+19G>A
NM_001605.3(AARS1):c.1347+7A>G
NM_001605.3(AARS1):c.1347+9C>T
NM_001605.3(AARS1):c.1348-10T>A rs760431632
NM_001605.3(AARS1):c.1348-10T>C
NM_001605.3(AARS1):c.1348-11C>G rs1332894937
NM_001605.3(AARS1):c.1348-17G>A
NM_001605.3(AARS1):c.1348-20C>G rs371734869
NM_001605.3(AARS1):c.1348-20C>T
NM_001605.3(AARS1):c.1374T>G (p.Gly458=)
NM_001605.3(AARS1):c.1377G>C (p.Gly459=)
NM_001605.3(AARS1):c.144+14C>T rs757604499
NM_001605.3(AARS1):c.144+19T>C
NM_001605.3(AARS1):c.144+7G>A
NM_001605.3(AARS1):c.144+8T>C
NM_001605.3(AARS1):c.145-15G>C rs2152167095
NM_001605.3(AARS1):c.145-17C>A
NM_001605.3(AARS1):c.145-18G>T
NM_001605.3(AARS1):c.1461C>T (p.Tyr487=) rs1410121757
NM_001605.3(AARS1):c.1479C>T (p.Ser493=)
NM_001605.3(AARS1):c.1488C>T (p.Ser496=) rs1057048498
NM_001605.3(AARS1):c.1492+10T>A
NM_001605.3(AARS1):c.1492+10TG[3] rs758577376
NM_001605.3(AARS1):c.1492+13G>A rs2152158273
NM_001605.3(AARS1):c.1492+14C>T
NM_001605.3(AARS1):c.1492+15T>C
NM_001605.3(AARS1):c.1492+19T>C rs749277642
NM_001605.3(AARS1):c.1492+7T>C
NM_001605.3(AARS1):c.1493-15A>G
NM_001605.3(AARS1):c.1493-19A>G
NM_001605.3(AARS1):c.1493-8T>G
NM_001605.3(AARS1):c.1493-9C>A rs780911124
NM_001605.3(AARS1):c.1494A>G (p.Val498=)
NM_001605.3(AARS1):c.1506A>G (p.Thr502=)
NM_001605.3(AARS1):c.1515G>A (p.Thr505=) rs1057518288
NM_001605.3(AARS1):c.153C>T (p.Pro51=) rs1191170313
NM_001605.3(AARS1):c.1545C>T (p.Phe515=)
NM_001605.3(AARS1):c.1551A>G (p.Glu517=) rs1597437798
NM_001605.3(AARS1):c.1560C>T (p.Ser520=)
NM_001605.3(AARS1):c.1563A>G (p.Thr521=) rs1273011840
NM_001605.3(AARS1):c.156T>C (p.Ile52=)
NM_001605.3(AARS1):c.1572G>A (p.Glu524=)
NM_001605.3(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.3(AARS1):c.1590C>T (p.Asp530=)
NM_001605.3(AARS1):c.1596C>T (p.Thr532=) rs142181559
NM_001605.3(AARS1):c.1602C>T (p.Phe534=)
NM_001605.3(AARS1):c.162G>A (p.Leu54=) rs2152167067
NM_001605.3(AARS1):c.1642C>T (p.Leu548=)
NM_001605.3(AARS1):c.1647G>A (p.Val549=)
NM_001605.3(AARS1):c.1671+12G>C
NM_001605.3(AARS1):c.1671+19C>T
NM_001605.3(AARS1):c.1671+20T>C
NM_001605.3(AARS1):c.1671+8_1671+15del
NM_001605.3(AARS1):c.1671+9A>G rs1013897408
NM_001605.3(AARS1):c.1672-15C>T
NM_001605.3(AARS1):c.1672-7C>T
NM_001605.3(AARS1):c.1710A>G (p.Gly570=)
NM_001605.3(AARS1):c.1719G>A (p.Val573=)
NM_001605.3(AARS1):c.1728T>C (p.Ile576=)
NM_001605.3(AARS1):c.1737C>G (p.Ile579Met) rs144323646
NM_001605.3(AARS1):c.1746C>T (p.Asp582=)
NM_001605.3(AARS1):c.1773G>A (p.Leu591=)
NM_001605.3(AARS1):c.1785+10G>A
NM_001605.3(AARS1):c.1785+10del
NM_001605.3(AARS1):c.1785+20C>T
NM_001605.3(AARS1):c.1786-17C>A
NM_001605.3(AARS1):c.1786-7T>C rs2152154564
NM_001605.3(AARS1):c.1809C>T (p.Ser603=)
NM_001605.3(AARS1):c.1824G>A (p.Thr608=) rs199644417
NM_001605.3(AARS1):c.1824G>C (p.Thr608=) rs199644417
NM_001605.3(AARS1):c.1824G>T (p.Thr608=)
NM_001605.3(AARS1):c.1827C>T (p.His609=)
NM_001605.3(AARS1):c.1836C>T (p.Asn612=) rs1555540045
NM_001605.3(AARS1):c.1842C>T (p.Ala614=) rs1057521642
NM_001605.3(AARS1):c.1851A>G (p.Ser617=)
NM_001605.3(AARS1):c.1854G>A (p.Val618=) rs2152154469
NM_001605.3(AARS1):c.1860G>C (p.Gly620=) rs2152154460
NM_001605.3(AARS1):c.1902C>T (p.Leu634=) rs2152154407
NM_001605.3(AARS1):c.1929C>T (p.Ala643=)
NM_001605.3(AARS1):c.1953G>A (p.Lys651=)
NM_001605.3(AARS1):c.1956T>G (p.Ala652=) rs1194294732
NM_001605.3(AARS1):c.1965T>C (p.Ile655=)
NM_001605.3(AARS1):c.1989C>T (p.Ala663=) rs2152154316
NM_001605.3(AARS1):c.1992+12G>A
NM_001605.3(AARS1):c.1992+19G>C rs1960065308
NM_001605.3(AARS1):c.1992+7T>C
NM_001605.3(AARS1):c.1993-13_1993-11del rs1960041397
NM_001605.3(AARS1):c.1993-16C>G
NM_001605.3(AARS1):c.1993-18G>C
NM_001605.3(AARS1):c.1993-7C>T rs753213408
NM_001605.3(AARS1):c.1993-8T>C
NM_001605.3(AARS1):c.2004C>T (p.Thr668=) rs1283821119
NM_001605.3(AARS1):c.2010T>C (p.Asp670=)
NM_001605.3(AARS1):c.2025A>T (p.Ala675=)
NM_001605.3(AARS1):c.2034C>T (p.Ala678=)
NM_001605.3(AARS1):c.2037C>A (p.Ile679=)
NM_001605.3(AARS1):c.2049G>A (p.Arg683=)
NM_001605.3(AARS1):c.2049G>T (p.Arg683=) rs1960038059
NM_001605.3(AARS1):c.2053G>A (p.Val685Met) rs531257362
NM_001605.3(AARS1):c.2082G>A (p.Val694=) rs1960037082
NM_001605.3(AARS1):c.2088C>T (p.Val696=)
NM_001605.3(AARS1):c.2091C>T (p.Val697=)
NM_001605.3(AARS1):c.2100G>A (p.Gly700=) rs2152153574
NM_001605.3(AARS1):c.2103C>A (p.Val701=) rs1476539357
NM_001605.3(AARS1):c.2112C>A (p.Ser704=)
NM_001605.3(AARS1):c.2112C>G (p.Ser704=)
NM_001605.3(AARS1):c.2148C>T (p.Ser716=)
NM_001605.3(AARS1):c.2149C>T (p.Leu717=)
NM_001605.3(AARS1):c.2157T>C (p.Ser719=)
NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu) rs115882953
NM_001605.3(AARS1):c.2169T>C (p.Cys723=) rs2152153481
NM_001605.3(AARS1):c.2177+11C>T
NM_001605.3(AARS1):c.2177+13del
NM_001605.3(AARS1):c.2177+20A>G
NM_001605.3(AARS1):c.2177+9T>A
NM_001605.3(AARS1):c.2177+9T>G rs2152153451
NM_001605.3(AARS1):c.2178-11C>T
NM_001605.3(AARS1):c.2178-14G>T rs371633904
NM_001605.3(AARS1):c.2178-17del
NM_001605.3(AARS1):c.2178-4dup rs1567602041
NM_001605.3(AARS1):c.2178-5T>C
NM_001605.3(AARS1):c.2178-9G>C
NM_001605.3(AARS1):c.2187G>A (p.Arg729=)
NM_001605.3(AARS1):c.2193G>A (p.Ser731=) rs746349849
NM_001605.3(AARS1):c.2202A>T (p.Ala734=)
NM_001605.3(AARS1):c.2205A>T (p.Gly735=)
NM_001605.3(AARS1):c.2223G>C (p.Thr741=)
NM_001605.3(AARS1):c.2241G>A (p.Lys747=)
NM_001605.3(AARS1):c.2248C>A (p.Arg750=)
NM_001605.3(AARS1):c.2259G>A (p.Val753=)
NM_001605.3(AARS1):c.225C>T (p.Cys75=) rs2152167029
NM_001605.3(AARS1):c.2265C>T (p.Val755=) rs1027921501
NM_001605.3(AARS1):c.2268A>C (p.Thr756=)
NM_001605.3(AARS1):c.2274C>T (p.Ala758=) rs143430116
NM_001605.3(AARS1):c.2286+7A>G rs1597433975
NM_001605.3(AARS1):c.2286+8G>A
NM_001605.3(AARS1):c.2287-10C>T
NM_001605.3(AARS1):c.2287-12G>T
NM_001605.3(AARS1):c.2295G>A (p.Arg765=)
NM_001605.3(AARS1):c.2307C>T (p.Ser769=) rs2152150785
NM_001605.3(AARS1):c.2310G>A (p.Leu770=)
NM_001605.3(AARS1):c.231G>T (p.Arg77=) rs2152167020
NM_001605.3(AARS1):c.2322C>G (p.Leu774=) rs35769308
NM_001605.3(AARS1):c.2322C>T (p.Leu774=) rs35769308
NM_001605.3(AARS1):c.2328C>T (p.Val776=) rs146969194
NM_001605.3(AARS1):c.2358T>C (p.Ala786=) rs2152150749
NM_001605.3(AARS1):c.2382G>A (p.Glu794=)
NM_001605.3(AARS1):c.2391C>T (p.Asp797=) rs2152150720
NM_001605.3(AARS1):c.2400+15C>T
NM_001605.3(AARS1):c.2400+18C>T
NM_001605.3(AARS1):c.2400+20C>T
NM_001605.3(AARS1):c.2400+7G>A
NM_001605.3(AARS1):c.2400+8C>A
NM_001605.3(AARS1):c.2400+8C>G
NM_001605.3(AARS1):c.2400+9G>A
NM_001605.3(AARS1):c.2401-11A>C rs377576408
NM_001605.3(AARS1):c.2401-11A>G rs377576408
NM_001605.3(AARS1):c.2401-11A>T rs377576408
NM_001605.3(AARS1):c.2401-13C>T
NM_001605.3(AARS1):c.2401-16C>G
NM_001605.3(AARS1):c.2401-18G>A
NM_001605.3(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.3(AARS1):c.2448G>C (p.Arg816=)
NM_001605.3(AARS1):c.2457C>G (p.Leu819=) rs1485047907
NM_001605.3(AARS1):c.2469G>A (p.Lys823=)
NM_001605.3(AARS1):c.2475C>T (p.Val825=) rs1160997883
NM_001605.3(AARS1):c.2490C>T (p.Asp830=)
NM_001605.3(AARS1):c.2506G>A (p.Asp836Asn) rs1217292644
NM_001605.3(AARS1):c.2508T>C (p.Asp836=)
NM_001605.3(AARS1):c.2517A>G (p.Lys839=)
NM_001605.3(AARS1):c.2520+12C>T
NM_001605.3(AARS1):c.2520+18C>T
NM_001605.3(AARS1):c.2520+7C>T
NM_001605.3(AARS1):c.2521-11T>C
NM_001605.3(AARS1):c.2521-12T>C rs200328881
NM_001605.3(AARS1):c.2521-16G>A
NM_001605.3(AARS1):c.2521-41_2521-16del
NM_001605.3(AARS1):c.252C>T (p.Asp84=)
NM_001605.3(AARS1):c.2550C>T (p.Asp850=)
NM_001605.3(AARS1):c.2577C>T (p.Ile859=)
NM_001605.3(AARS1):c.2607+12G>C
NM_001605.3(AARS1):c.2607+13C>A
NM_001605.3(AARS1):c.2607+14C>T
NM_001605.3(AARS1):c.2607+17G>A
NM_001605.3(AARS1):c.2607+18G>A rs760437667
NM_001605.3(AARS1):c.2607+18G>T rs760437667
NM_001605.3(AARS1):c.2607+20C>G
NM_001605.3(AARS1):c.2607+8A>G rs1597432621
NM_001605.3(AARS1):c.2608-11C>G
NM_001605.3(AARS1):c.2608-14G>A
NM_001605.3(AARS1):c.2608-16C>G rs371163247
NM_001605.3(AARS1):c.2608-17C>G rs955702969
NM_001605.3(AARS1):c.2608-18G>T
NM_001605.3(AARS1):c.2622C>T (p.Ala874=) rs1597432428
NM_001605.3(AARS1):c.2667C>T (p.Leu889=)
NM_001605.3(AARS1):c.2673G>A (p.Thr891=)
NM_001605.3(AARS1):c.2706G>A (p.Leu902=) rs1214694193
NM_001605.3(AARS1):c.2706G>T (p.Leu902=)
NM_001605.3(AARS1):c.270G>A (p.Lys90=) rs1597446213
NM_001605.3(AARS1):c.2712A>G (p.Gln904=) rs1555539241
NM_001605.3(AARS1):c.2715T>A (p.Val905=) rs4081753
NM_001605.3(AARS1):c.2716C>G (p.Pro906Ala)
NM_001605.3(AARS1):c.2721+12C>T
NM_001605.3(AARS1):c.2721+14C>G rs369055609
NM_001605.3(AARS1):c.2721+15G>A rs377325175
NM_001605.3(AARS1):c.2721+15G>C rs377325175
NM_001605.3(AARS1):c.2721+15G>T rs377325175
NM_001605.3(AARS1):c.2721+17A>T rs2152149667
NM_001605.3(AARS1):c.2721+20A>G
NM_001605.3(AARS1):c.2722-13T>G
NM_001605.3(AARS1):c.2722-20C>G
NM_001605.3(AARS1):c.2722-7C>T rs2152149455
NM_001605.3(AARS1):c.2722-9del
NM_001605.3(AARS1):c.2724T>C (p.Asn908=) rs2152149449
NM_001605.3(AARS1):c.2736G>T (p.Arg912=)
NM_001605.3(AARS1):c.2748C>T (p.Ala916=)
NM_001605.3(AARS1):c.2751C>T (p.Ser917=)
NM_001605.3(AARS1):c.276C>G (p.Val92=) rs774991720
NM_001605.3(AARS1):c.2776T>C (p.Leu926=) rs1597432045
NM_001605.3(AARS1):c.2811T>C (p.Ser937=)
NM_001605.3(AARS1):c.2814A>C (p.Ala938=)
NM_001605.3(AARS1):c.2838C>T (p.Gly946=)
NM_001605.3(AARS1):c.2841C>T (p.Cys947=) rs1555539162
NM_001605.3(AARS1):c.2842C>T (p.Leu948=)
NM_001605.3(AARS1):c.2853G>A (p.Ala951=)
NM_001605.3(AARS1):c.2860C>T (p.Leu954=) rs1959872785
NM_001605.3(AARS1):c.2868T>G (p.Thr956=)
NM_001605.3(AARS1):c.2874C>T (p.Phe958=)
NM_001605.3(AARS1):c.2889C>G (p.Leu963=) rs75033663
NM_001605.3(AARS1):c.2889C>T (p.Leu963=) rs75033663
NM_001605.3(AARS1):c.2906del (p.Asn968_Ter969insTer)
NM_001605.3(AARS1):c.294C>T (p.Phe98=)
NM_001605.3(AARS1):c.333+12G>A
NM_001605.3(AARS1):c.333+15G>A
NM_001605.3(AARS1):c.333+18_333+20del rs2152166939
NM_001605.3(AARS1):c.333+9A>T
NM_001605.3(AARS1):c.334-10C>A rs758124515
NM_001605.3(AARS1):c.334-13_334-9del
NM_001605.3(AARS1):c.334-14T>G rs2152166778
NM_001605.3(AARS1):c.334-15C>T
NM_001605.3(AARS1):c.334-17C>T
NM_001605.3(AARS1):c.334-19C>G
NM_001605.3(AARS1):c.334-19CT[2] rs1305114725
NM_001605.3(AARS1):c.336A>G (p.Glu112=) rs759137116
NM_001605.3(AARS1):c.337T>C (p.Leu113=)
NM_001605.3(AARS1):c.342A>C (p.Ala114=) rs190680402
NM_001605.3(AARS1):c.342A>G (p.Ala114=) rs190680402
NM_001605.3(AARS1):c.354T>C (p.Ala118=)
NM_001605.3(AARS1):c.387C>T (p.Pro129=) rs1960557000
NM_001605.3(AARS1):c.399T>G (p.Leu133=)
NM_001605.3(AARS1):c.429A>C (p.Ala143=) rs1457318201
NM_001605.3(AARS1):c.436T>C (p.Leu146=)
NM_001605.3(AARS1):c.453A>G (p.Glu151=) rs765555696
NM_001605.3(AARS1):c.477G>A (p.Leu159=)
NM_001605.3(AARS1):c.479+10C>A
NM_001605.3(AARS1):c.479+10C>T
NM_001605.3(AARS1):c.480-18T>C
NM_001605.3(AARS1):c.480-8T>G rs751472610
NM_001605.3(AARS1):c.481C>T (p.Leu161=)
NM_001605.3(AARS1):c.490A>G (p.Thr164Ala)
NM_001605.3(AARS1):c.501C>T (p.Leu167=) rs1567608510
NM_001605.3(AARS1):c.510C>T (p.Asn170=)
NM_001605.3(AARS1):c.543G>A (p.Thr181=) rs900751261
NM_001605.3(AARS1):c.555T>A (p.Gly185=)
NM_001605.3(AARS1):c.60G>A (p.Arg20=)
NM_001605.3(AARS1):c.612C>T (p.Val204=)
NM_001605.3(AARS1):c.618G>A (p.Gln206=) rs139785247
NM_001605.3(AARS1):c.621C>T (p.Asp207=) rs147424208
NM_001605.3(AARS1):c.636G>A (p.Leu212=)
NM_001605.3(AARS1):c.639G>A (p.Glu213=) rs2152163164
NM_001605.3(AARS1):c.651T>C (p.Leu217=) rs1960409154
NM_001605.3(AARS1):c.667A>G (p.Asn223Asp)
NM_001605.3(AARS1):c.671+15C>A
NM_001605.3(AARS1):c.671+18C>A
NM_001605.3(AARS1):c.672-15T>C
NM_001605.3(AARS1):c.672-16C>T
NM_001605.3(AARS1):c.672-19C>G
NM_001605.3(AARS1):c.672-5T>A
NM_001605.3(AARS1):c.672-5T>C rs777431545
NM_001605.3(AARS1):c.688C>T (p.Leu230=)
NM_001605.3(AARS1):c.72G>C (p.Thr24=)
NM_001605.3(AARS1):c.736C>A (p.Arg246=) rs756337758
NM_001605.3(AARS1):c.774T>C (p.Tyr258=) rs2152162118
NM_001605.3(AARS1):c.783C>T (p.Asp261=)
NM_001605.3(AARS1):c.798C>T (p.Tyr266=)
NM_001605.3(AARS1):c.816+13T>C
NM_001605.3(AARS1):c.816+15G>T rs1057248434
NM_001605.3(AARS1):c.816+20C>G
NM_001605.3(AARS1):c.816+9G>A
NM_001605.3(AARS1):c.816+9G>C
NM_001605.3(AARS1):c.817-11C>G
NM_001605.3(AARS1):c.817-11C>T
NM_001605.3(AARS1):c.817-16del rs2152161834
NM_001605.3(AARS1):c.817-3dup
NM_001605.3(AARS1):c.817-4A>C
NM_001605.3(AARS1):c.822A>T (p.Thr274=) rs757503544
NM_001605.3(AARS1):c.830G>A (p.Arg277Gln)
NM_001605.3(AARS1):c.834A>G (p.Pro278=)
NM_001605.3(AARS1):c.846A>G (p.Lys282=) rs561670727
NM_001605.3(AARS1):c.885C>T (p.Tyr295=)
NM_001605.3(AARS1):c.897T>C (p.Ala299=)
NM_001605.3(AARS1):c.906T>C (p.Ala302=)
NM_001605.3(AARS1):c.909G>T (p.Arg303=) rs1344681812
NM_001605.3(AARS1):c.912C>G (p.Thr304=) rs2152161707
NM_001605.3(AARS1):c.927G>A (p.Leu309=)
NM_001605.3(AARS1):c.939C>A (p.Gly313=)
NM_001605.3(AARS1):c.940C>A (p.Arg314=)
NM_001605.3(AARS1):c.942G>T (p.Arg314=)
NM_001605.3(AARS1):c.962+10C>G
NM_001605.3(AARS1):c.962+11T>C
NM_001605.3(AARS1):c.962+12G>A
NM_001605.3(AARS1):c.962+19G>C rs1427580064
NM_001605.3(AARS1):c.962+7A>G
NM_001605.3(AARS1):c.962+8T>C
NM_001605.3(AARS1):c.963-12T>C
NM_001605.3(AARS1):c.963-8T>C
NM_001605.3(AARS1):c.963-9C>T
NM_001605.3(AARS1):c.96C>A (p.Ile32=)
NM_001605.3(AARS1):c.9T>C (p.Ser3=)

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