ClinVar Miner

List of variants in gene combination AARS2, POLR1C reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 281
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.750-5G>A rs78410483 0.00739
NM_020745.4(AARS2):c.*718C>A rs140359685 0.00491
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu) rs147091256 0.00185
NM_020745.4(AARS2):c.*394C>A rs545769603 0.00183
NM_020745.4(AARS2):c.*997G>T rs146753959 0.00181
NM_020745.4(AARS2):c.*982G>A rs192274662 0.00158
NM_020745.4(AARS2):c.*448G>T rs565803591 0.00157
NM_020745.4(AARS2):c.*256A>G rs182434401 0.00144
NM_020745.4(AARS2):c.2905G>T (p.Asp969Tyr) rs150039184 0.00123
NM_020745.4(AARS2):c.1621G>A (p.Glu541Lys) rs142094090 0.00087
NM_020745.4(AARS2):c.1649G>C (p.Gly550Ala) rs79962181 0.00087
NM_020745.4(AARS2):c.*627G>A rs539810987 0.00085
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) rs146512155 0.00073
NM_020745.4(AARS2):c.2598+11G>A rs376223052 0.00073
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys) rs146924860 0.00060
NM_020745.4(AARS2):c.1195A>C (p.Asn399His) rs148363748 0.00059
NM_020745.4(AARS2):c.1150-4C>G rs141516924 0.00049
NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln) rs141941157 0.00048
NM_020745.4(AARS2):c.533C>T (p.Ala178Val) rs200343365 0.00043
NM_020745.4(AARS2):c.1569C>T (p.Ser523=) rs374173311 0.00042
NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr) rs202171981 0.00021
NM_020745.4(AARS2):c.2683-10C>T rs372088350 0.00021
NM_020745.4(AARS2):c.*1811C>T rs546498237 0.00019
NM_020745.4(AARS2):c.*408G>C rs780339845 0.00019
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val) rs143271585 0.00019
NM_020745.4(AARS2):c.2131C>T (p.Arg711Cys) rs758466937 0.00019
NM_020745.4(AARS2):c.2729C>G (p.Thr910Arg) rs148429504 0.00019
NM_020745.4(AARS2):c.*1473del rs766302064 0.00016
NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr) rs146765163 0.00016
NM_020745.4(AARS2):c.*1293A>G rs1054092802 0.00015
NM_020745.4(AARS2):c.1756G>A (p.Val586Met) rs201873561 0.00015
NM_020745.4(AARS2):c.2551C>G (p.Leu851Val) rs376103315 0.00014
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln) rs139974034 0.00014
NM_020745.4(AARS2):c.*753C>G rs751745102 0.00013
NM_020745.4(AARS2):c.2162T>C (p.Val721Ala) rs775065697 0.00013
NM_020745.4(AARS2):c.*9C>T rs772455600 0.00012
NM_020745.4(AARS2):c.1076G>A (p.Arg359His) rs200485499 0.00011
NM_020745.4(AARS2):c.*1706C>T rs767571924 0.00009
NM_020745.4(AARS2):c.1250G>A (p.Arg417Gln) rs200188616 0.00009
NM_020745.4(AARS2):c.422G>A (p.Gly141Asp) rs373555804 0.00009
NM_020745.4(AARS2):c.435+9C>T rs199955037 0.00009
NM_020745.4(AARS2):c.673C>T (p.His225Tyr) rs200704447 0.00009
NM_020745.4(AARS2):c.679G>A (p.Asp227Asn) rs765016818 0.00009
NM_020745.4(AARS2):c.824C>T (p.Ala275Val) rs753386864 0.00009
NM_020745.4(AARS2):c.940G>A (p.Glu314Lys) rs546851135 0.00009
NM_020745.4(AARS2):c.*1310T>C rs553722790 0.00008
NM_020745.4(AARS2):c.82C>G (p.Arg28Gly) rs758360552 0.00008
NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys) rs753324375 0.00007
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala) rs199919912 0.00007
NM_020745.4(AARS2):c.*1471C>T rs996356800 0.00006
NM_020745.4(AARS2):c.1474T>C (p.Leu492=) rs141076788 0.00006
NM_020745.4(AARS2):c.1533C>T (p.Asp511=) rs372094957 0.00006
NM_020745.4(AARS2):c.1832G>A (p.Arg611Gln) rs150402972 0.00006
NM_020745.4(AARS2):c.407A>G (p.Asn136Ser) rs781255698 0.00006
NM_020745.4(AARS2):c.*1197C>T rs1009499618 0.00005
NM_020745.4(AARS2):c.*752G>C rs1027113180 0.00005
NM_020745.4(AARS2):c.1444C>T (p.Arg482Trp) rs749519355 0.00005
NM_020745.4(AARS2):c.1595A>G (p.Glu532Gly) rs150729948 0.00004
NM_020745.4(AARS2):c.2579G>A (p.Arg860His) rs775755633 0.00004
NM_020745.4(AARS2):c.2702G>A (p.Arg901Gln) rs768583871 0.00004
NM_020745.4(AARS2):c.2893G>A (p.Gly965Arg) rs543267101 0.00004
NM_020745.4(AARS2):c.302G>A (p.Arg101His) rs545566267 0.00004
NM_020745.4(AARS2):c.60C>T (p.Pro20=) rs781361302 0.00004
NM_020745.4(AARS2):c.*317G>A rs1468335658 0.00003
NM_020745.4(AARS2):c.1052G>A (p.Arg351His) rs863223862 0.00003
NM_020745.4(AARS2):c.10T>A (p.Ser4Thr) rs755011099 0.00003
NM_020745.4(AARS2):c.1191C>T (p.Ile397=) rs745806197 0.00003
NM_020745.4(AARS2):c.1434+7G>A rs953512104 0.00003
NM_020745.4(AARS2):c.2132G>A (p.Arg711His) rs752743037 0.00003
NM_020745.4(AARS2):c.2165G>A (p.Arg722Gln) rs566667883 0.00003
NM_020745.4(AARS2):c.221T>A (p.Phe74Tyr) rs757169781 0.00003
NM_020745.4(AARS2):c.22G>T (p.Ala8Ser) rs886061491 0.00003
NM_020745.4(AARS2):c.2417G>A (p.Arg806Gln) rs148172134 0.00003
NM_020745.4(AARS2):c.2561G>A (p.Arg854His) rs751611980 0.00003
NM_020745.4(AARS2):c.2679C>T (p.Leu893=) rs766642839 0.00003
NM_020745.4(AARS2):c.2812A>C (p.Thr938Pro) rs763868546 0.00003
NM_020745.4(AARS2):c.2861C>T (p.Ala954Val) rs747312867 0.00003
NM_020745.4(AARS2):c.872C>T (p.Pro291Leu) rs199985183 0.00003
NM_020745.4(AARS2):c.967G>A (p.Val323Met) rs770774995 0.00003
NM_020745.4(AARS2):c.*51T>C rs765200517 0.00002
NM_020745.4(AARS2):c.1310C>A (p.Ala437Asp) rs777835089 0.00002
NM_020745.4(AARS2):c.1873C>T (p.Arg625Cys) rs756662327 0.00002
NM_020745.4(AARS2):c.2221G>A (p.Ala741Thr) rs536579476 0.00002
NM_020745.4(AARS2):c.2297T>G (p.Ile766Ser) rs200410313 0.00002
NM_020745.4(AARS2):c.2668G>A (p.Ala890Thr) rs752797271 0.00002
NM_020745.4(AARS2):c.670A>C (p.Ile224Leu) rs772630843 0.00002
NM_020745.4(AARS2):c.915C>T (p.Tyr305=) rs778966995 0.00002
NM_020745.4(AARS2):c.*1485G>A rs886061481 0.00001
NM_020745.4(AARS2):c.*262T>C rs886061484 0.00001
NM_020745.4(AARS2):c.1064G>A (p.Arg355His) rs768992661 0.00001
NM_020745.4(AARS2):c.1213G>A (p.Glu405Lys) rs587777592 0.00001
NM_020745.4(AARS2):c.1244G>A (p.Gly415Asp) rs151044424 0.00001
NM_020745.4(AARS2):c.1411C>T (p.Arg471Trp) rs766085905 0.00001
NM_020745.4(AARS2):c.1445G>A (p.Arg482Gln) rs368303351 0.00001
NM_020745.4(AARS2):c.1519G>C (p.Val507Leu) rs182596701 0.00001
NM_020745.4(AARS2):c.1788T>C (p.Cys596=) rs201849519 0.00001
NM_020745.4(AARS2):c.1831C>T (p.Arg611Trp) rs370481312 0.00001
NM_020745.4(AARS2):c.2005C>A (p.Gln669Lys) rs781702000 0.00001
NM_020745.4(AARS2):c.2032C>T (p.Arg678Trp) rs751523537 0.00001
NM_020745.4(AARS2):c.2146-11C>T rs886061487 0.00001
NM_020745.4(AARS2):c.2207C>T (p.Pro736Leu) rs863223861 0.00001
NM_020745.4(AARS2):c.2219C>T (p.Ala740Val) rs753952552 0.00001
NM_020745.4(AARS2):c.2270C>T (p.Thr757Ile) rs371852804 0.00001
NM_020745.4(AARS2):c.2353C>G (p.Gln785Glu) rs863223859 0.00001
NM_020745.4(AARS2):c.2369G>A (p.Arg790Gln) rs1327430475 0.00001
NM_020745.4(AARS2):c.2524C>T (p.Arg842Trp) rs778582339 0.00001
NM_020745.4(AARS2):c.2525G>A (p.Arg842Gln) rs199677657 0.00001
NM_020745.4(AARS2):c.2671G>A (p.Glu891Lys) rs779053083 0.00001
NM_020745.4(AARS2):c.2683-1G>T rs374185049 0.00001
NM_020745.4(AARS2):c.268G>C (p.Val90Leu) rs863223860 0.00001
NM_020745.4(AARS2):c.2860G>A (p.Ala954Thr) rs771293152 0.00001
NM_020745.4(AARS2):c.368G>T (p.Arg123Leu) rs745761471 0.00001
NM_020745.4(AARS2):c.426A>G (p.Glu142=) rs779650766 0.00001
NM_020745.4(AARS2):c.77G>A (p.Ser26Asn) rs747099630 0.00001
NM_020745.4(AARS2):c.923G>A (p.Arg308Gln) rs368473952 0.00001
NM_020745.4(AARS2):c.946C>T (p.Arg316Cys) rs765720580 0.00001
NM_020745.4(AARS2):c.959C>T (p.Ala320Val) rs201471937 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_020745.4(AARS2):c.*1045G>A rs527281365
NM_020745.4(AARS2):c.*1112dup rs112521684
NM_020745.4(AARS2):c.*1252A>C rs886061482
NM_020745.4(AARS2):c.*1284_*1287del rs201274623
NM_020745.4(AARS2):c.*1326A>G rs370057942
NM_020745.4(AARS2):c.*1536G>C rs548185310
NM_020745.4(AARS2):c.*1549C>T rs886061480
NM_020745.4(AARS2):c.*155C>T rs1785260425
NM_020745.4(AARS2):c.*1603C>G rs886061479
NM_020745.4(AARS2):c.*1720C>T rs140886261
NM_020745.4(AARS2):c.*279G>A rs886061483
NM_020745.4(AARS2):c.*683C>G rs764440099
NM_020745.4(AARS2):c.1028T>C (p.Met343Thr)
NM_020745.4(AARS2):c.1036C>A (p.Pro346Thr)
NM_020745.4(AARS2):c.1040+1G>A rs1561941287
NM_020745.4(AARS2):c.1041G>A (p.Pro347=) rs1258430421
NM_020745.4(AARS2):c.1049T>C (p.Leu350Pro) rs1785916519
NM_020745.4(AARS2):c.1067G>A (p.Arg356Gln)
NM_020745.4(AARS2):c.106G>A (p.Ala36Thr) rs1786528830
NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe) rs2153355304
NM_020745.4(AARS2):c.109G>A (p.Ala37Thr) rs1786528628
NM_020745.4(AARS2):c.1102C>A (p.Pro368Thr)
NM_020745.4(AARS2):c.1132G>A (p.Val378Ile)
NM_020745.4(AARS2):c.1135G>A (p.Val379Met)
NM_020745.4(AARS2):c.1183G>C (p.Ala395Pro)
NM_020745.4(AARS2):c.1199T>C (p.Leu400Pro)
NM_020745.4(AARS2):c.119C>G (p.Ser40Trp)
NM_020745.4(AARS2):c.119C>T (p.Ser40Leu) rs778971317
NM_020745.4(AARS2):c.1210_1221dup (p.Ala407_Phe408insAspGluAlaAla) rs2153355103
NM_020745.4(AARS2):c.1236G>A (p.Leu412=) rs754383916
NM_020745.4(AARS2):c.1249C>T (p.Arg417Trp)
NM_020745.4(AARS2):c.1261C>T (p.Arg421Trp)
NM_020745.4(AARS2):c.1262G>A (p.Arg421Gln)
NM_020745.4(AARS2):c.1262G>T (p.Arg421Leu) rs143345225
NM_020745.4(AARS2):c.1289A>G (p.Asp430Gly)
NM_020745.4(AARS2):c.1304A>G (p.Glu435Gly)
NM_020745.4(AARS2):c.1316C>T (p.Ser439Phe)
NM_020745.4(AARS2):c.1366A>G (p.Met456Val)
NM_020745.4(AARS2):c.1375G>C (p.Glu459Gln)
NM_020745.4(AARS2):c.1379A>G (p.Lys460Arg)
NM_020745.4(AARS2):c.1387C>T (p.Gln463Ter) rs1561940254
NM_020745.4(AARS2):c.1408G>C (p.Glu470Gln) rs863223863
NM_020745.4(AARS2):c.1430C>T (p.Ala477Val)
NM_020745.4(AARS2):c.1435C>T (p.His479Tyr)
NM_020745.4(AARS2):c.1438C>T (p.Arg480Trp)
NM_020745.4(AARS2):c.1486G>A (p.Val496Ile)
NM_020745.4(AARS2):c.1492G>A (p.Ala498Thr)
NM_020745.4(AARS2):c.1496T>G (p.Leu499Arg) rs2153354700
NM_020745.4(AARS2):c.1511G>A (p.Arg504His)
NM_020745.4(AARS2):c.1511G>T (p.Arg504Leu)
NM_020745.4(AARS2):c.1564C>T (p.Pro522Ser) rs943891187
NM_020745.4(AARS2):c.1565C>G (p.Pro522Arg)
NM_020745.4(AARS2):c.1570G>A (p.Gly524Arg)
NM_020745.4(AARS2):c.1578T>C (p.Tyr526=)
NM_020745.4(AARS2):c.1627G>A (p.Gly543Arg)
NM_020745.4(AARS2):c.1627G>C (p.Gly543Arg)
NM_020745.4(AARS2):c.1634C>T (p.Ala545Val)
NM_020745.4(AARS2):c.1644C>T (p.Ser548=) rs377764395
NM_020745.4(AARS2):c.1645G>A (p.Val549Met)
NM_020745.4(AARS2):c.1682G>C (p.Arg561Thr) rs886061488
NM_020745.4(AARS2):c.1687A>T (p.Asn563Tyr) rs2153354521
NM_020745.4(AARS2):c.1696G>A (p.Ala566Thr)
NM_020745.4(AARS2):c.1699G>A (p.Glu567Lys)
NM_020745.4(AARS2):c.1705G>C (p.Gly569Arg)
NM_020745.4(AARS2):c.170G>A (p.Arg57Gln)
NM_020745.4(AARS2):c.1739G>A (p.Arg580Gln)
NM_020745.4(AARS2):c.1771G>A (p.Ala591Thr)
NM_020745.4(AARS2):c.1809G>C (p.Glu603Asp)
NM_020745.4(AARS2):c.1819C>T (p.Pro607Ser)
NM_020745.4(AARS2):c.1844A>C (p.Gln615Pro)
NM_020745.4(AARS2):c.1867-11A>C
NM_020745.4(AARS2):c.1885A>G (p.Met629Val)
NM_020745.4(AARS2):c.1895A>G (p.His632Arg) rs1554148040
NM_020745.4(AARS2):c.1904C>A (p.Thr635Asn)
NM_020745.4(AARS2):c.193C>T (p.Arg65Trp)
NM_020745.4(AARS2):c.1975C>A (p.Pro659Thr)
NM_020745.4(AARS2):c.1988G>A (p.Arg663His)
NM_020745.4(AARS2):c.19G>C (p.Ala7Pro) rs750230257
NM_020745.4(AARS2):c.2008-7C>A rs372126423
NM_020745.4(AARS2):c.2062G>A (p.Val688Met)
NM_020745.4(AARS2):c.2086A>T (p.Met696Leu) rs955369277
NM_020745.4(AARS2):c.2108T>C (p.Leu703Pro)
NM_020745.4(AARS2):c.2168T>C (p.Val723Ala)
NM_020745.4(AARS2):c.217C>G (p.Leu73Val)
NM_020745.4(AARS2):c.2195A>G (p.His732Arg)
NM_020745.4(AARS2):c.2202G>A (p.Leu734=) rs886061486
NM_020745.4(AARS2):c.2210C>G (p.Ala737Gly)
NM_020745.4(AARS2):c.2255C>T (p.Thr752Met)
NM_020745.4(AARS2):c.2267G>A (p.Arg756His)
NM_020745.4(AARS2):c.227A>G (p.Asn76Ser)
NM_020745.4(AARS2):c.2299G>A (p.Gly767Arg)
NM_020745.4(AARS2):c.2306G>A (p.Arg769His)
NM_020745.4(AARS2):c.2329C>T (p.Arg777Cys)
NM_020745.4(AARS2):c.2362C>G (p.Gln788Glu)
NM_020745.4(AARS2):c.2368C>G (p.Arg790Gly) rs1480490090
NM_020745.4(AARS2):c.2435G>A (p.Arg812Gln)
NM_020745.4(AARS2):c.2444C>T (p.Ala815Val)
NM_020745.4(AARS2):c.2542G>A (p.Val848Met) rs2153353779
NM_020745.4(AARS2):c.2570C>T (p.Thr857Ile)
NM_020745.4(AARS2):c.2598+3G>A
NM_020745.4(AARS2):c.25G>A (p.Ala9Thr) rs537231845
NM_020745.4(AARS2):c.25G>T (p.Ala9Ser) rs537231845
NM_020745.4(AARS2):c.262G>A (p.Gly88Ser) rs2153357655
NM_020745.4(AARS2):c.2636C>G (p.Ser879Trp) rs770826503
NM_020745.4(AARS2):c.2636C>T (p.Ser879Leu)
NM_020745.4(AARS2):c.2654T>C (p.Val885Ala) rs1002993835
NM_020745.4(AARS2):c.2654T>G (p.Val885Gly)
NM_020745.4(AARS2):c.2658C>A (p.Asp886Glu) rs758434921
NM_020745.4(AARS2):c.2682+5G>A
NM_020745.4(AARS2):c.2683-21_2683-20inv
NM_020745.4(AARS2):c.2701C>G (p.Arg901Gly) rs145086947
NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp) rs145086947
NM_020745.4(AARS2):c.2718G>C (p.Gln906His)
NM_020745.4(AARS2):c.2722C>T (p.Pro908Ser) rs202149382
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs) rs780343109
NM_020745.4(AARS2):c.2729C>T (p.Thr910Met)
NM_020745.4(AARS2):c.2783A>G (p.Gln928Arg)
NM_020745.4(AARS2):c.2794G>A (p.Gly932Ser) rs886061485
NM_020745.4(AARS2):c.2850G>T (p.Met950Ile) rs1554147408
NM_020745.4(AARS2):c.28C>G (p.Arg10Gly)
NM_020745.4(AARS2):c.2937C>G (p.Thr979=) rs200778121
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del) rs562829310
NM_020745.4(AARS2):c.331G>C (p.Ala111Pro)
NM_020745.4(AARS2):c.344A>T (p.His115Leu) rs757866075
NM_020745.4(AARS2):c.351C>A (p.Asp117Glu)
NM_020745.4(AARS2):c.352C>G (p.Leu118Val)
NM_020745.4(AARS2):c.358G>A (p.Asp120Asn)
NM_020745.4(AARS2):c.408T>C (p.Asn136=) rs886061490
NM_020745.4(AARS2):c.424G>A (p.Glu142Lys) rs1554149186
NM_020745.4(AARS2):c.455C>A (p.Ala152Asp)
NM_020745.4(AARS2):c.455C>G (p.Ala152Gly) rs2153357333
NM_020745.4(AARS2):c.466C>G (p.Leu156Val)
NM_020745.4(AARS2):c.472C>A (p.Gln158Lys) rs759138272
NM_020745.4(AARS2):c.487C>T (p.Pro163Ser)
NM_020745.4(AARS2):c.4G>A (p.Ala2Thr)
NM_020745.4(AARS2):c.502T>C (p.Trp168Arg) rs2153357315
NM_020745.4(AARS2):c.509C>T (p.Ser170Phe) rs1367537494
NM_020745.4(AARS2):c.539T>C (p.Leu180Pro) rs2153357304
NM_020745.4(AARS2):c.547G>C (p.Asp183His)
NM_020745.4(AARS2):c.572T>G (p.Leu191Arg)
NM_020745.4(AARS2):c.57G>C (p.Ser19=) rs1049916671
NM_020745.4(AARS2):c.604T>C (p.Ser202Pro)
NM_020745.4(AARS2):c.649C>T (p.Pro217Ser) rs1786310363
NM_020745.4(AARS2):c.671T>A (p.Ile224Asn) rs1786308486
NM_020745.4(AARS2):c.682C>T (p.Leu228Phe)
NM_020745.4(AARS2):c.739C>A (p.Gln247Lys)
NM_020745.4(AARS2):c.750-9C>T rs1786252044
NM_020745.4(AARS2):c.755C>G (p.Ala252Gly) rs748309472
NM_020745.4(AARS2):c.85C>T (p.Pro29Ser)
NM_020745.4(AARS2):c.879C>T (p.Leu293=) rs886061489
NM_020745.4(AARS2):c.880A>G (p.Asn294Asp)
NM_020745.4(AARS2):c.881A>G (p.Asn294Ser)
NM_020745.4(AARS2):c.888A>G (p.Ile296Met)
NM_020745.4(AARS2):c.895-13_895-12inv
NM_020745.4(AARS2):c.907C>A (p.Pro303Thr)
NM_020745.4(AARS2):c.922C>A (p.Arg308=) rs770902982
NM_020745.4(AARS2):c.929G>T (p.Gly310Val)
NM_020745.4(AARS2):c.938A>G (p.Asp313Gly) rs2153355456
NM_020745.4(AARS2):c.941_943del (p.Glu314del)
NM_020745.4(AARS2):c.947G>A (p.Arg316His)
NM_020745.4(AARS2):c.965G>A (p.Arg322His)
NM_020745.4(AARS2):c.995G>A (p.Ser332Asn)

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