ClinVar Miner

List of variants in gene AARS1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_001605.3(AARS1):c.1992+139A>G rs7186104 0.85662
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_001605.3(AARS1):c.1071+140C>A rs62049419 0.29186
NM_001605.3(AARS1):c.1493-187T>C rs78344434 0.10055
NM_001605.3(AARS1):c.963-51A>C rs16970302 0.10037
NM_001605.3(AARS1):c.1347+21A>G rs7192000 0.10011
NM_001605.3(AARS1):c.1672-205G>C rs58467558 0.09993
NM_001605.3(AARS1):c.2287-95A>G rs7205918 0.09727
NM_001605.3(AARS1):c.1493-228C>T rs111435738 0.09481
NM_001605.3(AARS1):c.962+103G>A rs7193598 0.08458
NM_001605.3(AARS1):c.1492+199T>C rs74024184 0.07746
NM_001605.3(AARS1):c.1492+304T>C rs80256286 0.07726
NM_001605.3(AARS1):c.-22+44G>T rs7185665 0.07723
NM_001605.3(AARS1):c.671+180G>C rs16970361 0.07678
NM_001605.3(AARS1):c.671+3A>G rs74024185 0.07668
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) rs11537667 0.07667
NM_001605.3(AARS1):c.1347+40C>G rs7190921 0.07666
NM_001605.3(AARS1):c.2401-283T>C rs8046662 0.07485
NM_001605.3(AARS1):c.2607+43T>C rs8045571 0.07448
NM_001605.3(AARS1):c.*74A>T rs11537663 0.05921
NM_001605.3(AARS1):c.1071+135G>T rs62049420 0.02919
NM_001605.3(AARS1):c.2286+174A>G rs7184495 0.01684
NM_001605.3(AARS1):c.1493-168C>T rs111864362 0.01661
NM_001605.3(AARS1):c.1223-90C>T rs117857165 0.01485
NM_001605.3(AARS1):c.*251A>C rs116553521 0.01298
NM_001605.3(AARS1):c.1492+302C>A rs116762869 0.01298
NM_001605.3(AARS1):c.-21-279G>A rs114572751 0.01291
NM_001605.3(AARS1):c.479+195C>A rs148174726 0.01185
NM_001605.3(AARS1):c.671+78C>T rs114484755 0.01054
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_001605.3(AARS1):c.1223-256G>A rs138433042 0.00829
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_001605.3(AARS1):c.145-295C>T rs143531710 0.00572
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_001605.3(AARS1):c.333+125G>A rs137972763 0.00562
NM_001605.3(AARS1):c.1672-24G>C rs141541839 0.00553
NM_001605.3(AARS1):c.1672-33T>G rs78271061 0.00553
NM_001605.3(AARS1):c.962+185dup rs199536819 0.00551
NM_001605.3(AARS1):c.1785+257G>A rs575157151 0.00519
NM_001605.3(AARS1):c.2177+130A>G rs114248390 0.00430
NM_001605.3(AARS1):c.144+21C>A rs142903433 0.00429
NM_001605.3(AARS1):c.1493-172C>T rs151221103 0.00429
NM_001605.3(AARS1):c.145-123A>C rs76247508 0.00427
NM_001605.3(AARS1):c.671+269C>G rs189802321 0.00391
NM_001605.3(AARS1):c.962+18T>C rs149761815 0.00391
NM_001605.3(AARS1):c.480-68G>A rs184611994 0.00389
NM_001605.3(AARS1):c.1992+189C>T rs111906601 0.00357
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
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.1332G>A (p.Glu444=) rs150442667 0.00096
NM_001605.3(AARS1):c.1632C>T (p.Asp544=) rs149425243 0.00081
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
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.1428G>C (p.Arg476=) rs80257731 0.00041
NM_001605.3(AARS1):c.741G>A (p.Leu247=) rs148075561 0.00038
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.480-12C>G rs199728312 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.-27_-26insA rs1064794091 0.00021
NM_001605.3(AARS1):c.561C>T (p.Cys187=) rs78523270 0.00019
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.1108A>G (p.Met370Val) rs199976742 0.00014
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.1671+10C>T rs184240527 0.00012
NM_001605.3(AARS1):c.962+12G>C rs376863001 0.00012
NM_001605.3(AARS1):c.-22+8G>A rs541210638 0.00010
NM_001605.3(AARS1):c.1410C>T (p.Ile470=) rs79785372 0.00010
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser) rs199997425 0.00010
NM_001605.3(AARS1):c.962+16A>G rs768846274 0.00010
NM_001605.3(AARS1):c.2770T>G (p.Ser924Ala) rs766897796 0.00009
NM_001605.3(AARS1):c.1405G>A (p.Ala469Thr) rs141486562 0.00008
NM_001605.3(AARS1):c.1399A>G (p.Ile467Val) rs376215607 0.00006
NM_001605.3(AARS1):c.1546G>C (p.Val516Leu) rs143844046 0.00006
NM_001605.3(AARS1):c.1367G>T (p.Gly456Val) rs879254125 0.00005
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) rs142850278 0.00005
NM_001605.3(AARS1):c.418G>A (p.Gly140Arg) rs200438841 0.00005
NM_001605.3(AARS1):c.-14G>A rs555241883 0.00004
NM_001605.3(AARS1):c.-22+19G>A rs899186814 0.00004
NM_001605.3(AARS1):c.-30C>T rs879444433 0.00004
NM_001605.3(AARS1):c.1102C>T (p.Pro368Ser) rs371184292 0.00004
NM_001605.3(AARS1):c.145-17C>T rs375832841 0.00004
NM_001605.3(AARS1):c.1528C>T (p.Arg510Cys) rs369797061 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_001605.3(AARS1):c.2532G>A (p.Lys844=) rs371712914 0.00004
NM_001605.3(AARS1):c.2552G>A (p.Ser851Asn) rs368011194 0.00004
NM_001605.3(AARS1):c.2700G>A (p.Thr900=) rs140814462 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.1244A>G (p.Tyr415Cys) rs373069396 0.00003
NM_001605.3(AARS1):c.1275T>C (p.Thr425=) rs750552137 0.00003
NM_001605.3(AARS1):c.1347G>A (p.Gln449=) rs200557581 0.00003
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile) rs771059047 0.00003
NM_001605.3(AARS1):c.2218G>C (p.Val740Leu) rs749217453 0.00003
NM_001605.3(AARS1):c.2249G>A (p.Arg750Gln) rs1383041194 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.937G>A (p.Gly313Ser) rs141331431 0.00003
NM_001605.3(AARS1):c.1704C>T (p.Val568=) rs757658801 0.00002
NM_001605.3(AARS1):c.2547C>T (p.Ile849=) rs746615745 0.00002
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr) rs374478964 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.95T>C (p.Ile32Thr) rs751721557 0.00002
NM_001605.3(AARS1):c.1003G>A (p.Ala335Thr) rs765846298 0.00001
NM_001605.3(AARS1):c.1067C>T (p.Ser356Phe) rs771898925 0.00001
NM_001605.3(AARS1):c.1419C>G (p.Leu473=) rs375571275 0.00001
NM_001605.3(AARS1):c.1588G>A (p.Asp530Asn) rs1479302877 0.00001
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile) rs144982168 0.00001
NM_001605.3(AARS1):c.1672-10C>T rs1245852151 0.00001
NM_001605.3(AARS1):c.1805T>C (p.Met602Thr) rs1319699374 0.00001
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met) rs1597435885 0.00001
NM_001605.3(AARS1):c.1949A>G (p.Lys650Arg) rs142233951 0.00001
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala) rs145056270 0.00001
NM_001605.3(AARS1):c.2047C>T (p.Arg683Trp) rs866956348 0.00001
NM_001605.3(AARS1):c.2048G>A (p.Arg683Gln) rs371048516 0.00001
NM_001605.3(AARS1):c.2112C>T (p.Ser704=) rs936240936 0.00001
NM_001605.3(AARS1):c.2238C>T (p.Ala746=) rs767405300 0.00001
NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) rs786205157 0.00001
NM_001605.3(AARS1):c.2521-5T>G rs1555539335 0.00001
NM_001605.3(AARS1):c.2536A>G (p.Lys846Glu) rs577885582 0.00001
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) rs763757370 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001605.3(AARS1):c.310T>C (p.Trp104Arg) rs1057520616 0.00001
NM_001605.3(AARS1):c.581G>A (p.Arg194Gln) rs1033300766 0.00001
NM_001605.3(AARS1):c.5A>G (p.Asp2Gly) rs1485992879 0.00001
NM_001605.3(AARS1):c.71C>T (p.Thr24Met) rs1227942516 0.00001
NM_001605.3(AARS1):c.783C>G (p.Asp261Glu) rs1374950172 0.00001
NM_001605.3(AARS1):c.81C>T (p.His27=) rs750765656 0.00001
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr) rs576221121 0.00001
NM_001605.3(AARS1):c.917C>T (p.Thr306Ile) rs879254295 0.00001
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp) rs777601008 0.00001
NM_001605.3(AARS1):c.-12G>C rs777561554
NM_001605.3(AARS1):c.-21-11dup rs756492963
NM_001605.3(AARS1):c.-22+127G>A rs111461416
NM_001605.3(AARS1):c.-22+198G>A rs34087264
NM_001605.3(AARS1):c.-22+30C>T rs7186024
NM_001605.3(AARS1):c.1042A>G (p.Thr348Ala) rs1483525127
NM_001605.3(AARS1):c.1071+195_1071+197del rs201716706
NM_001605.3(AARS1):c.1091T>C (p.Leu364Pro) rs2152160262
NM_001605.3(AARS1):c.1222G>A (p.Gly408Arg) rs369135192
NM_001605.3(AARS1):c.1223-144_1223-128del rs67219164
NM_001605.3(AARS1):c.1223-291G>A rs188780120
NM_001605.3(AARS1):c.1223-33dup rs146880293
NM_001605.3(AARS1):c.1408A>T (p.Ile470Phe) rs879254145
NM_001605.3(AARS1):c.144+269dup rs57976512
NM_001605.3(AARS1):c.144+289dup rs751917115
NM_001605.3(AARS1):c.144+304C>T rs148545126
NM_001605.3(AARS1):c.1492+215_1492+216dup rs113142906
NM_001605.3(AARS1):c.1492+215dup rs113142906
NM_001605.3(AARS1):c.1515G>A (p.Thr505=) rs1057518288
NM_001605.3(AARS1):c.1672-100T>C rs116544164
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.3(AARS1):c.1785+293G>T rs138355157
NM_001605.3(AARS1):c.1790G>T (p.Arg597Leu) rs777597230
NM_001605.3(AARS1):c.1812C>G (p.Asn604Lys) rs1057524796
NM_001605.3(AARS1):c.1824G>A (p.Thr608=) rs199644417
NM_001605.3(AARS1):c.1842C>T (p.Ala614=) rs1057521642
NM_001605.3(AARS1):c.1979T>C (p.Ile660Thr) rs755780106
NM_001605.3(AARS1):c.1992+181del rs551139907
NM_001605.3(AARS1):c.1992+5G>A rs1064796467
NM_001605.3(AARS1):c.1992+83_1992+84del rs34846578
NM_001605.3(AARS1):c.1993-4G>A rs528932248
NM_001605.3(AARS1):c.2089G>A (p.Val697Ile) rs368191672
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser) rs757167895
NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu) rs115882953
NM_001605.3(AARS1):c.2207C>T (p.Ala736Val) rs879254073
NM_001605.3(AARS1):c.2235dup (p.Ala746fs) rs1597434047
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp) rs751300562
NM_001605.3(AARS1):c.2265C>T (p.Val755=) rs1027921501
NM_001605.3(AARS1):c.2286+200_2286+201del rs142442564
NM_001605.3(AARS1):c.2401-11A>C rs377576408
NM_001605.3(AARS1):c.2401-11A>G rs377576408
NM_001605.3(AARS1):c.2552G>C (p.Ser851Thr) rs368011194
NM_001605.3(AARS1):c.2712A>G (p.Gln904=) rs1555539241
NM_001605.3(AARS1):c.2722-133_2722-132del rs140930807
NM_001605.3(AARS1):c.2871del (p.Phe958fs) rs1555539158
NM_001605.3(AARS1):c.304G>C (p.Gly102Arg) rs1597446183
NM_001605.3(AARS1):c.327_331del (p.Tyr109_Lys111delinsTer) rs763937206
NM_001605.3(AARS1):c.342A>C (p.Ala114=) rs190680402
NM_001605.3(AARS1):c.355C>G (p.Leu119Val) rs879253967
NM_001605.3(AARS1):c.37C>A (p.Arg13=) rs761931081
NM_001605.3(AARS1):c.383T>C (p.Ile128Thr) rs879254175
NM_001605.3(AARS1):c.403G>A (p.Val135Ile) rs879254261
NM_001605.3(AARS1):c.453A>G (p.Glu151=) rs765555696
NM_001605.3(AARS1):c.479+196T>A rs143811203
NM_001605.3(AARS1):c.479+246T>A rs117626545
NM_001605.3(AARS1):c.480-307G>A rs573432197
NM_001605.3(AARS1):c.480-70C>G rs116309532
NM_001605.3(AARS1):c.556C>T (p.Pro186Ser)
NM_001605.3(AARS1):c.602C>T (p.Ala201Val) rs1028669019
NM_001605.3(AARS1):c.621C>T (p.Asp207=) rs147424208
NM_001605.3(AARS1):c.622G>C (p.Asp208His) rs780893599
NM_001605.3(AARS1):c.719C>A (p.Thr240Lys) rs1131691953
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter) rs756337758
NM_001605.3(AARS1):c.737G>A (p.Arg246Gln) rs2152162149
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys) rs1300927114
NM_001605.3(AARS1):c.816+203dup rs200415664
NM_001605.3(AARS1):c.817-158CT[2] rs140639021
NM_001605.3(AARS1):c.841G>C (p.Gly281Arg) rs750278639
NM_001605.3(AARS1):c.856G>A (p.Glu286Lys) rs2152161761
NM_001605.3(AARS1):c.882C>T (p.Ala294=) rs1057522409
NM_001605.3(AARS1):c.962+165C>A rs548335940
NM_001605.3(AARS1):c.963-250T>C rs186570190
NM_001605.3(AARS1):c.96C>T (p.Ile32=) rs369590315
NM_001605.3(AARS1):c.985C>T (p.Arg329Cys) rs1064795664
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621

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