ClinVar Miner

List of variants in gene AARS1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
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.2608-6C>A rs200965527 0.00088
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.1428G>C (p.Arg476=) rs80257731 0.00041
NM_001605.3(AARS1):c.741G>A (p.Leu247=) rs148075561 0.00038
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.561C>T (p.Cys187=) rs78523270 0.00019
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser) rs140135726 0.00018
NM_001605.3(AARS1):c.1108A>G (p.Met370Val) rs199976742 0.00014
NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu) rs150873930 0.00013
NM_001605.3(AARS1):c.385C>G (p.Pro129Ala) rs370622071 0.00013
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234 0.00010
NM_001605.3(AARS1):c.1410C>T (p.Ile470=) rs79785372 0.00010
NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser) rs371595630 0.00010
NM_001605.3(AARS1):c.333+3A>C rs747431164 0.00010
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser) rs199997425 0.00010
NM_001605.3(AARS1):c.1405G>A (p.Ala469Thr) rs141486562 0.00008
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe) rs527414180 0.00007
NM_001605.3(AARS1):c.58A>G (p.Arg20Gly) rs770697148 0.00007
NM_001605.3(AARS1):c.622G>A (p.Asp208Asn) rs780893599 0.00007
NM_001605.3(AARS1):c.958C>T (p.Arg320Cys) rs138490305 0.00007
NM_001605.3(AARS1):c.1546G>C (p.Val516Leu) rs143844046 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.865G>A (p.Asp289Asn) rs764718265 0.00006
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys) rs372221218 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.418G>A (p.Gly140Arg) rs200438841 0.00005
NM_001605.3(AARS1):c.894G>A (p.Leu298=) rs776027503 0.00005
NM_001605.3(AARS1):c.1420C>T (p.Arg474Trp) rs377163632 0.00004
NM_001605.3(AARS1):c.1528C>T (p.Arg510Cys) rs369797061 0.00004
NM_001605.3(AARS1):c.1786-5T>C rs77814513 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.2548G>A (p.Asp850Asn) rs772849771 0.00004
NM_001605.3(AARS1):c.2681A>G (p.Asn894Ser) rs775024070 0.00004
NM_001605.3(AARS1):c.2700G>A (p.Thr900=) rs140814462 0.00004
NM_001605.3(AARS1):c.601G>A (p.Ala201Thr) rs760716722 0.00004
NM_001605.3(AARS1):c.849T>C (p.Val283=) rs773866431 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 0.00004
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.2046A>G (p.Leu682=) rs757898507 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.391G>A (p.Glu131Lys) rs769706358 0.00003
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly) rs765398055 0.00003
NM_001605.3(AARS1):c.525C>G (p.Phe175Leu) rs369147317 0.00003
NM_001605.3(AARS1):c.542C>G (p.Thr181Arg) rs202099051 0.00003
NM_001605.3(AARS1):c.937G>A (p.Gly313Ser) rs141331431 0.00003
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) rs762241422 0.00002
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg) rs769182022 0.00002
NM_001605.3(AARS1):c.1529G>A (p.Arg510His) rs202176955 0.00002
NM_001605.3(AARS1):c.2547C>T (p.Ile849=) rs746615745 0.00002
NM_001605.3(AARS1):c.278A>G (p.Tyr93Cys) rs1251929931 0.00002
NM_001605.3(AARS1):c.823G>A (p.Gly275Ser) rs747142680 0.00002
NM_001605.3(AARS1):c.1002C>T (p.Tyr334=) rs753317193 0.00001
NM_001605.3(AARS1):c.1075G>A (p.Asp359Asn) rs1130535 0.00001
NM_001605.3(AARS1):c.1077T>C (p.Asp359=) rs1319547380 0.00001
NM_001605.3(AARS1):c.1079C>G (p.Ala360Gly) rs561829699 0.00001
NM_001605.3(AARS1):c.1230T>C (p.Thr410=) rs748544878 0.00001
NM_001605.3(AARS1):c.1419C>G (p.Leu473=) rs375571275 0.00001
NM_001605.3(AARS1):c.1561A>G (p.Thr521Ala) rs369465026 0.00001
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile) rs144982168 0.00001
NM_001605.3(AARS1):c.1764G>C (p.Gln588His) rs771478786 0.00001
NM_001605.3(AARS1):c.176C>T (p.Pro59Leu) rs1337985053 0.00001
NM_001605.3(AARS1):c.1805T>C (p.Met602Thr) rs1319699374 0.00001
NM_001605.3(AARS1):c.2048G>A (p.Arg683Gln) rs371048516 0.00001
NM_001605.3(AARS1):c.2084G>A (p.Arg695Gln) rs377378009 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.2154T>G (p.Thr718=) rs1410315443 0.00001
NM_001605.3(AARS1):c.2238C>T (p.Ala746=) rs767405300 0.00001
NM_001605.3(AARS1):c.2335G>A (p.Ala779Thr) rs767954906 0.00001
NM_001605.3(AARS1):c.2396G>T (p.Gly799Val) rs1959931902 0.00001
NM_001605.3(AARS1):c.2686G>A (p.Ala896Thr) rs1295851671 0.00001
NM_001605.3(AARS1):c.295G>A (p.Glu99Lys) rs777170136 0.00001
NM_001605.3(AARS1):c.479+5G>T rs1487772006 0.00001
NM_001605.3(AARS1):c.521A>G (p.Asn174Ser) rs1567608496 0.00001
NM_001605.3(AARS1):c.63C>T (p.Asn21=) rs773045737 0.00001
NM_001605.3(AARS1):c.70A>C (p.Thr24Pro) rs768158204 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.817-4A>G rs746210439 0.00001
NM_001605.3(AARS1):c.81C>T (p.His27=) rs750765656 0.00001
NM_001605.3(AARS1):c.886C>T (p.Arg296Trp) rs1225401608 0.00001
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr) rs576221121 0.00001
NM_001605.3(AARS1):c.957G>A (p.Gly319=) rs762546700 0.00001
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp) rs777601008 0.00001
NM_001605.3(AARS1):c.113C>T (p.Thr38Ile) rs761574997
NM_001605.3(AARS1):c.1151A>G (p.Lys384Arg)
NM_001605.3(AARS1):c.1159A>G (p.Ser387Gly)
NM_001605.3(AARS1):c.1171C>A (p.Arg391Ser)
NM_001605.3(AARS1):c.1172G>A (p.Arg391His)
NM_001605.3(AARS1):c.1184G>A (p.Arg395Lys)
NM_001605.3(AARS1):c.1216A>G (p.Ile406Val)
NM_001605.3(AARS1):c.1243T>A (p.Tyr415Asn)
NM_001605.3(AARS1):c.1290A>G (p.Glu430=) rs1567605886
NM_001605.3(AARS1):c.1295A>G (p.Lys432Arg)
NM_001605.3(AARS1):c.1408A>G (p.Ile470Val)
NM_001605.3(AARS1):c.1418T>C (p.Leu473Pro)
NM_001605.3(AARS1):c.1478C>G (p.Ser493Cys)
NM_001605.3(AARS1):c.1515G>A (p.Thr505=) rs1057518288
NM_001605.3(AARS1):c.1520T>C (p.Met507Thr)
NM_001605.3(AARS1):c.1525C>G (p.Leu509Val) rs761096936
NM_001605.3(AARS1):c.1546G>A (p.Val516Met) rs143844046
NM_001605.3(AARS1):c.1563A>G (p.Thr521=) rs1273011840
NM_001605.3(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.3(AARS1):c.1596C>A (p.Thr532=) rs142181559
NM_001605.3(AARS1):c.1596C>T (p.Thr532=) rs142181559
NM_001605.3(AARS1):c.1597T>C (p.Cys533Arg)
NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp) rs371617479
NM_001605.3(AARS1):c.1642C>G (p.Leu548Val)
NM_001605.3(AARS1):c.1651G>A (p.Val551Met) rs1060503691
NM_001605.3(AARS1):c.1699C>T (p.Gln567Ter)
NM_001605.3(AARS1):c.1737C>G (p.Ile579Met) rs144323646
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.3(AARS1):c.1793G>A (p.Arg598Gln)
NM_001605.3(AARS1):c.1824G>A (p.Thr608=) rs199644417
NM_001605.3(AARS1):c.1836C>T (p.Asn612=) rs1555540045
NM_001605.3(AARS1):c.1840G>C (p.Ala614Pro)
NM_001605.3(AARS1):c.1842C>T (p.Ala614=) rs1057521642
NM_001605.3(AARS1):c.1916C>T (p.Thr639Ile)
NM_001605.3(AARS1):c.1921A>G (p.Lys641Glu) rs1960068371
NM_001605.3(AARS1):c.1964T>C (p.Ile655Thr)
NM_001605.3(AARS1):c.1993-5G>C
NM_001605.3(AARS1):c.2108T>A (p.Val703Glu)
NM_001605.3(AARS1):c.2114A>G (p.Glu705Gly)
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.2218G>A (p.Val740Met) rs749217453
NM_001605.3(AARS1):c.2222C>G (p.Thr741Arg)
NM_001605.3(AARS1):c.2265C>T (p.Val755=) rs1027921501
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.2400+5G>T
NM_001605.3(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.3(AARS1):c.2546T>C (p.Ile849Thr)
NM_001605.3(AARS1):c.2595C>T (p.Gly865=) rs751781504
NM_001605.3(AARS1):c.2599T>C (p.Ser867Pro)
NM_001605.3(AARS1):c.2672C>T (p.Thr891Met)
NM_001605.3(AARS1):c.2722-28_2740dup rs768242660
NM_001605.3(AARS1):c.2785G>C (p.Gly929Arg)
NM_001605.3(AARS1):c.2841C>T (p.Cys947=) rs1555539162
NM_001605.3(AARS1):c.2870C>G (p.Ser957Cys) rs146540551
NM_001605.3(AARS1):c.2880G>C (p.Gln960His)
NM_001605.3(AARS1):c.2901G>C (p.Lys967Asn) rs762241810
NM_001605.3(AARS1):c.323A>T (p.Asp108Val)
NM_001605.3(AARS1):c.333+3A>G rs747431164
NM_001605.3(AARS1):c.343del (p.Cys115fs)
NM_001605.3(AARS1):c.35A>G (p.Gln12Arg) rs1960733766
NM_001605.3(AARS1):c.37C>A (p.Arg13=) rs761931081
NM_001605.3(AARS1):c.453A>G (p.Glu151=) rs765555696
NM_001605.3(AARS1):c.556C>T (p.Pro186Ser)
NM_001605.3(AARS1):c.604C>T (p.His202Tyr)
NM_001605.3(AARS1):c.621C>T (p.Asp207=) rs147424208
NM_001605.3(AARS1):c.661C>T (p.Gln221Ter)
NM_001605.3(AARS1):c.672-4A>G
NM_001605.3(AARS1):c.817-1G>A rs866662905
NM_001605.3(AARS1):c.830G>A (p.Arg277Gln)
NM_001605.3(AARS1):c.83C>T (p.Ser28Leu) rs1326668375
NM_001605.3(AARS1):c.877A>T (p.Met293Leu)
NM_001605.3(AARS1):c.882C>T (p.Ala294=) rs1057522409
NM_001605.3(AARS1):c.902A>G (p.His301Arg)
NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter)
NM_001605.3(AARS1):c.96C>T (p.Ile32=) rs369590315

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