ClinVar Miner

List of variants in gene combination AARS2, POLR1C reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.1150-182C>T rs161706 0.89585
NM_020745.4(AARS2):c.*149G>A rs325009 0.88520
NM_020745.4(AARS2):c.2598+157C>T rs325006 0.88066
NM_020745.4(AARS2):c.2683-20A>G rs325007 0.87773
NM_020745.4(AARS2):c.2598+117G>C rs325005 0.87685
NM_020745.4(AARS2):c.2607G>A (p.Lys869=) rs498512 0.67400
NM_020745.4(AARS2):c.2007+257C>T rs325000 0.66597
NM_020745.4(AARS2):c.243+6G>A rs167772 0.50019
NM_020745.4(AARS2):c.1301-23T>G rs324137 0.48996
NM_020745.4(AARS2):c.2146-24G>A rs325001 0.47169
NM_020745.4(AARS2):c.2365-115G>C rs325004 0.46847
NM_020745.4(AARS2):c.244-281A>G rs3818685 0.43293
NM_020745.4(AARS2):c.581+16T>C rs9688508 0.28633
NM_020745.4(AARS2):c.436-37G>A rs41282672 0.28595
NM_020745.4(AARS2):c.749+139T>C rs10807297 0.14253
NM_020745.4(AARS2):c.436-31_436-30insT rs139386463 0.14245
NM_020745.4(AARS2):c.894+324A>G rs56130549 0.12584
NM_020745.4(AARS2):c.2871= (p.Ser957=) rs325008 0.12070
NM_020745.4(AARS2):c.1015= (p.Ile339=) rs324136 0.10482
NM_020745.4(AARS2):c.1301-179G>T rs9395001 0.06452
NM_020745.4(AARS2):c.1753-54G>T rs74964556 0.03854
NM_020745.4(AARS2):c.1753-14C>G rs74950428 0.03853
NM_020745.4(AARS2):c.2598+227G>A rs2236500 0.03833
NM_020745.4(AARS2):c.2599-221A>G rs12204222 0.03647
NM_020745.4(AARS2):c.2188G>A (p.Val730Met) rs35623954 0.03189
NM_020745.4(AARS2):c.243+209G>A rs116516830 0.02439
NM_020745.4(AARS2):c.243+151G>A rs17288082 0.02262
NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln) rs35967387 0.01853
NM_020745.4(AARS2):c.2548A>G (p.Met850Val) rs35783144 0.01782
NM_020745.4(AARS2):c.1150-102T>A rs111524510 0.01674
NM_020745.4(AARS2):c.420G>A (p.Gly140=) rs75506489 0.01671
NM_020745.4(AARS2):c.2007+45A>T rs78610788 0.01670
NM_020745.4(AARS2):c.2440G>A (p.Val814Met) rs111325758 0.01670
NM_020745.4(AARS2):c.436-140A>G rs78350664 0.01668
NM_020745.4(AARS2):c.1753-13T>C rs80339975 0.01667
NM_020745.4(AARS2):c.2008-297C>T rs76553603 0.01667
NM_020745.4(AARS2):c.749+136C>A rs116720208 0.01461
NM_020745.4(AARS2):c.1040+28C>T rs78552484 0.01277
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu) rs115815965 0.01205
NM_020745.4(AARS2):c.895-331T>G rs75063435 0.01088
NM_020745.4(AARS2):c.2794-143G>A rs77287454 0.01085
NM_020745.4(AARS2):c.2007+200C>T rs113580146 0.01078
NM_020745.4(AARS2):c.2598+16G>T rs113721536 0.01078
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) rs113433939 0.01077
NM_020745.4(AARS2):c.750-200A>G rs77138332 0.01074
NM_020745.4(AARS2):c.1580-48C>T rs76002081 0.01064
NM_020745.4(AARS2):c.436-92G>C rs36117074 0.01056
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln) rs34530313 0.01004
NM_020745.4(AARS2):c.749+14G>A rs74709196 0.00947
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) rs112247130 0.00812
NM_020745.4(AARS2):c.2364+111T>C rs115619046 0.00800
NM_001318876.2(POLR1C):c.946-128378C>A rs115632431 0.00781
NM_020745.4(AARS2):c.895-253C>T rs115030957 0.00781
NM_020745.4(AARS2):c.750-5G>A rs78410483 0.00739
NM_020745.4(AARS2):c.2683-45G>C rs77555031 0.00720
NM_020745.4(AARS2):c.2682+31G>C rs77920790 0.00719
NM_020745.4(AARS2):c.2008-81A>C rs77510689 0.00682
NM_020745.4(AARS2):c.2793+105G>A rs150658816 0.00669
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) rs78525157 0.00653
NM_020745.4(AARS2):c.436-164A>G rs150281682 0.00638
NM_020745.4(AARS2):c.435+224A>C rs114397709 0.00632
NM_020745.4(AARS2):c.2007+8C>T rs150125794 0.00599
NM_020745.4(AARS2):c.2364+55C>T rs114243629 0.00591
NM_020745.4(AARS2):c.2793+191A>C rs111611268 0.00590
NM_020745.4(AARS2):c.2256-51C>G rs325003 0.00577
NM_020745.4(AARS2):c.435+150T>G rs138936100 0.00545
NM_020745.4(AARS2):c.894+257T>A rs141196093 0.00384
NM_020745.4(AARS2):c.2365-87C>T rs59078350 0.00382
NM_020745.4(AARS2):c.2488-101A>G rs144194985 0.00357
NM_020745.4(AARS2):c.2008-44G>A rs199785702 0.00348
NM_020745.4(AARS2):c.2033G>A (p.Arg678Gln) rs150973108 0.00340
NM_020745.4(AARS2):c.1398C>T (p.Ser466=) rs146711725 0.00249
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) rs78397386 0.00210
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu) rs147091256 0.00185
NM_020745.4(AARS2):c.2682+27C>T rs190179603 0.00185
NM_020745.4(AARS2):c.-1G>C rs369453852 0.00127
NM_020745.4(AARS2):c.2905G>T (p.Asp969Tyr) rs150039184 0.00123
NM_001318876.2(POLR1C):c.946-128526G>A rs138333586 0.00085
NM_020745.4(AARS2):c.1173A>G (p.Gln391=) rs150184415 0.00081
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.1558C>T (p.Leu520=) rs139032394 0.00066
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.243+19T>C rs367781252 0.00049
NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln) rs141941157 0.00048
NM_020745.4(AARS2):c.895-16C>T rs199695987 0.00039
NM_020745.4(AARS2):c.2683-9G>A rs368363224 0.00029
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_020745.4(AARS2):c.678C>T (p.Tyr226=) rs78135749 0.00023
NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr) rs202171981 0.00021
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val) rs143271585 0.00019
NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr) rs146765163 0.00016
NM_020745.4(AARS2):c.1756G>A (p.Val586Met) rs201873561 0.00015
NM_020745.4(AARS2):c.1661G>A (p.Arg554His) rs139280416 0.00014
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.2162T>C (p.Val721Ala) rs775065697 0.00013
NM_020745.4(AARS2):c.2682+18C>T rs549379670 0.00013
NM_020745.4(AARS2):c.*9C>T rs772455600 0.00012
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.2730G>A (p.Thr910=) rs201616927 0.00007
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_020745.4(AARS2):c.162T>C (p.His54=) rs139144637 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.2097G>T (p.Val699=) rs779714788 0.00005
NM_020745.4(AARS2):c.882C>T (p.Asn294=) rs141636040 0.00005
NM_020745.4(AARS2):c.244-7C>T rs200662122 0.00004
NM_020745.4(AARS2):c.2893G>A (p.Gly965Arg) rs543267101 0.00004
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.1434+7G>A rs953512104 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.966C>T (p.Arg322=) rs774493482 0.00002
NM_020745.4(AARS2):c.1008dup (p.Asp337Ter) rs766771165 0.00001
NM_020745.4(AARS2):c.1047T>G (p.Val349=) rs555363880 0.00001
NM_020745.4(AARS2):c.1189-11G>C rs1346509852 0.00001
NM_020745.4(AARS2):c.132C>T (p.Ala44=) rs756852994 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.1764C>T (p.Phe588=) rs200425170 0.00001
NM_020745.4(AARS2):c.1874G>A (p.Arg625His) rs898375030 0.00001
NM_020745.4(AARS2):c.2032C>T (p.Arg678Trp) rs751523537 0.00001
NM_020745.4(AARS2):c.2207C>T (p.Pro736Leu) rs863223861 0.00001
NM_020745.4(AARS2):c.2255+7C>T rs1057524079 0.00001
NM_020745.4(AARS2):c.2353C>G (p.Gln785Glu) rs863223859 0.00001
NM_020745.4(AARS2):c.2392C>T (p.Gln798Ter) rs751187394 0.00001
NM_020745.4(AARS2):c.2488-19G>A rs548669358 0.00001
NM_020745.4(AARS2):c.2598+1G>T rs768351915 0.00001
NM_020745.4(AARS2):c.268G>C (p.Val90Leu) rs863223860 0.00001
NM_020745.4(AARS2):c.2952G>C (p.Gln984His) rs760967545 0.00001
NM_020745.4(AARS2):c.946C>T (p.Arg316Cys) rs765720580 0.00001
NM_020745.4(AARS2):c.1041-23G>C rs111839169
NM_020745.4(AARS2):c.1041-29A>G rs7740535
NM_020745.4(AARS2):c.1067G>A (p.Arg356Gln)
NM_020745.4(AARS2):c.115dup (p.Ala39fs) rs971969514
NM_020745.4(AARS2):c.1189-16_1189-14del rs144914586
NM_020745.4(AARS2):c.1199T>C (p.Leu400Pro)
NM_020745.4(AARS2):c.1262G>T (p.Arg421Leu) rs143345225
NM_020745.4(AARS2):c.1281G>A (p.Gly427=) rs557359115
NM_020745.4(AARS2):c.1301-13T>G rs1057523445
NM_020745.4(AARS2):c.1366A>G (p.Met456Val)
NM_020745.4(AARS2):c.1408G>C (p.Glu470Gln) rs863223863
NM_020745.4(AARS2):c.1486G>A (p.Val496Ile)
NM_020745.4(AARS2):c.1565C>G (p.Pro522Arg)
NM_020745.4(AARS2):c.1570G>A (p.Gly524Arg)
NM_020745.4(AARS2):c.1645G>A (p.Val549Met)
NM_020745.4(AARS2):c.1696G>A (p.Ala566Thr)
NM_020745.4(AARS2):c.1738C>T (p.Arg580Trp)
NM_020745.4(AARS2):c.1739G>A (p.Arg580Gln)
NM_020745.4(AARS2):c.1752+8_1752+9del rs764521639
NM_020745.4(AARS2):c.1866+12C>T rs1057521008
NM_020745.4(AARS2):c.2051_2052del (p.Val684fs) rs1167314179
NM_020745.4(AARS2):c.2133C>A (p.Arg711=) rs1391642356
NM_020745.4(AARS2):c.2255+35C>A rs325002
NM_020745.4(AARS2):c.2329C>T (p.Arg777Cys)
NM_020745.4(AARS2):c.2345C>T (p.Thr782Ile) rs1085307969
NM_020745.4(AARS2):c.234C>A (p.Gly78=) rs752238227
NM_020745.4(AARS2):c.2368C>G (p.Arg790Gly) rs1480490090
NM_020745.4(AARS2):c.2542G>A (p.Val848Met) rs2153353779
NM_020745.4(AARS2):c.2598+10G>T rs748931933
NM_020745.4(AARS2):c.2598+130_2598+132del rs3831223
NM_020745.4(AARS2):c.2598+9_2598+11del rs773017457
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.2681C>A (p.Ser894Ter) rs200781477
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs) rs780343109
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA rs10627820
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del) rs562829310
NM_020745.4(AARS2):c.424G>A (p.Glu142Lys) rs1554149186
NM_020745.4(AARS2):c.539T>C (p.Leu180Pro) rs2153357304
NM_020745.4(AARS2):c.572T>G (p.Leu191Arg)
NM_020745.4(AARS2):c.647dup (p.Cys218fs) rs587777589
NM_020745.4(AARS2):c.750-7T>C rs1057522139
NM_020745.4(AARS2):c.750-81del rs540341777
NM_020745.4(AARS2):c.755C>G (p.Ala252Gly) rs748309472
NM_020745.4(AARS2):c.781del (p.Gln261fs) rs1554148927
NM_020745.4(AARS2):c.895-64C>A rs41282670

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