ClinVar Miner

List of variants in gene AARS1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP
NM_001605.2(AARS1):c.*169C>G rs554221793
NM_001605.2(AARS1):c.*213C>T rs150625194
NM_001605.2(AARS1):c.*251A>C rs116553521
NM_001605.2(AARS1):c.*324G>A rs141837805
NM_001605.2(AARS1):c.*74A>T rs11537663
NM_001605.2(AARS1):c.-108T>C rs779683414
NM_001605.2(AARS1):c.1019A>G (p.Asn340Ser) rs140135726
NM_001605.2(AARS1):c.1044G>C (p.Thr348=) rs181264712
NM_001605.2(AARS1):c.1108A>G (p.Met370Val) rs199976742
NM_001605.2(AARS1):c.1120A>G (p.Ile374Val) rs142128800
NM_001605.2(AARS1):c.1222G>A (p.Gly408Arg) rs369135192
NM_001605.2(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234
NM_001605.2(AARS1):c.1332G>A (p.Glu444=) rs150442667
NM_001605.2(AARS1):c.1404C>T (p.Tyr468=) rs117598688
NM_001605.2(AARS1):c.1409T>A (p.Ile470Asn) rs1567605658
NM_001605.2(AARS1):c.1410C>T (p.Ile470=) rs79785372
NM_001605.2(AARS1):c.1420C>T (p.Arg474Trp) rs377163632
NM_001605.2(AARS1):c.1428G>C (p.Arg476=) rs80257731
NM_001605.2(AARS1):c.1481G>T (p.Ser494Ile) rs771059047
NM_001605.2(AARS1):c.1493-7T>C rs376087556
NM_001605.2(AARS1):c.1509G>A (p.Val503=) rs138406510
NM_001605.2(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.2(AARS1):c.1596C>A (p.Thr532=) rs142181559
NM_001605.2(AARS1):c.1611G>T (p.Glu537Asp) rs371617479
NM_001605.2(AARS1):c.1671+10C>T rs184240527
NM_001605.2(AARS1):c.1672-4T>A rs187509039
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.2(AARS1):c.1762C>T (p.Gln588Ter) rs146946034
NM_001605.2(AARS1):c.1811A>G (p.Asn604Ser) rs371595630
NM_001605.2(AARS1):c.1823C>T (p.Thr608Met) rs1597435885
NM_001605.2(AARS1):c.1824G>A (p.Thr608=) rs199644417
NM_001605.2(AARS1):c.1846C>T (p.Arg616Cys) rs372221218
NM_001605.2(AARS1):c.1949A>G (p.Lys650Arg) rs142233951
NM_001605.2(AARS1):c.2109G>C (p.Val703=) rs777499923
NM_001605.2(AARS1):c.2129C>T (p.Pro710Leu) rs754391789
NM_001605.2(AARS1):c.212A>G (p.Asn71Ser) rs757167895
NM_001605.2(AARS1):c.2178-14G>A rs371633904
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_001605.2(AARS1):c.2186G>A (p.Arg729Gln) rs142850278
NM_001605.2(AARS1):c.2192C>T (p.Ser731Leu) rs150873930
NM_001605.2(AARS1):c.2217C>T (p.Ile739=) rs770980206
NM_001605.2(AARS1):c.2222C>T (p.Thr741Met) rs148383122
NM_001605.2(AARS1):c.2240A>G (p.Lys747Arg) rs886052254
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) rs797044801
NM_001605.2(AARS1):c.2378G>C (p.Arg793Thr) rs886052253
NM_001605.2(AARS1):c.2401-11A>G rs377576408
NM_001605.2(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.2(AARS1):c.2459A>G (p.Lys820Arg) rs147319762
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001605.2(AARS1):c.2580G>A (p.Leu860=) rs145581652
NM_001605.2(AARS1):c.2596G>A (p.Ala866Thr) rs374478964
NM_001605.2(AARS1):c.2608-6C>A rs200965527
NM_001605.2(AARS1):c.2700G>A (p.Thr900=) rs140814462
NM_001605.2(AARS1):c.2715T>C (p.Val905=) rs4081753
NM_001605.2(AARS1):c.2732A>G (p.Asn911Ser) rs746822330
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) rs149377346
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met) rs35744709
NM_001605.2(AARS1):c.304G>C (p.Gly102Arg) rs1597446183
NM_001605.2(AARS1):c.328T>C (p.Phe110Leu) rs1555542415
NM_001605.2(AARS1):c.333+3A>C rs747431164
NM_001605.2(AARS1):c.342A>C (p.Ala114=) rs190680402
NM_001605.2(AARS1):c.385C>G (p.Pro129Ala) rs370622071
NM_001605.2(AARS1):c.480-8T>G rs751472610
NM_001605.2(AARS1):c.497T>G (p.Ile166Ser) rs199997425
NM_001605.2(AARS1):c.518A>G (p.Asp173Gly) rs765398055
NM_001605.2(AARS1):c.561C>T (p.Cys187=) rs78523270
NM_001605.2(AARS1):c.600C>T (p.Ala200=) rs150080663
NM_001605.2(AARS1):c.618G>T (p.Gln206His) rs139785247
NM_001605.2(AARS1):c.63C>T (p.Asn21=) rs773045737
NM_001605.2(AARS1):c.64G>A (p.Glu22Lys) rs151091410
NM_001605.2(AARS1):c.671+3A>G rs74024185
NM_001605.2(AARS1):c.700C>T (p.Pro234Ser) rs141840552
NM_001605.2(AARS1):c.741G>A (p.Leu247=) rs148075561
NM_001605.2(AARS1):c.783C>G (p.Asp261Glu) rs1374950172
NM_001605.2(AARS1):c.806C>G (p.Ala269Gly) rs769239545
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp) rs11537667
NM_001605.2(AARS1):c.903C>T (p.His301=) rs2070203
NM_001605.2(AARS1):c.904G>A (p.Ala302Thr) rs576221121
NM_001605.2(AARS1):c.91A>G (p.Thr31Ala) rs886052256
NM_001605.2(AARS1):c.958C>T (p.Arg320Cys) rs138490305
NM_001605.2(AARS1):c.962+15C>T rs779150762
NM_001605.3(AARS1):c.*131G>A
NM_001605.3(AARS1):c.*141A>G
NM_001605.3(AARS1):c.*32T>C
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) rs762241422
NM_001605.3(AARS1):c.1059C>T (p.Val353=)
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)
NM_001605.3(AARS1):c.1138G>T (p.Val380Leu) rs1597440700
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr) rs551899273
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr) rs1597439359
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser) rs1228135551
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)
NM_001605.3(AARS1):c.1656T>C (p.Asp552=)
NM_001605.3(AARS1):c.2019G>C (p.Leu673=)
NM_001605.3(AARS1):c.205G>C (p.Ala69Pro) rs767533880
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)
NM_001605.3(AARS1):c.211A>T (p.Asn71Tyr) rs387906792
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729
NM_001605.3(AARS1):c.2592C>T (p.Ser864=) rs11537665
NM_001605.3(AARS1):c.259G>A rs763757370
NM_001605.3(AARS1):c.2730C>T (p.Ala910=) rs199839663
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr) rs147187788
NM_001605.3(AARS1):c.501C>T (p.Leu167=)
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu) rs763378637
NM_001605.3(AARS1):c.72G>A (p.Thr24=) rs780609058
NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys) rs1597442205
NM_001605.3(AARS1):c.828C>G (p.Ala276=)
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr)
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621

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