ClinVar Miner

List of variants in gene combination AARS2, POLR1C reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 199
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.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.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.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.*1007A>G rs538721769 0.00229
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_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.1173A>G (p.Gln391=) rs150184415 0.00081
NM_020745.4(AARS2):c.960G>A (p.Ala320=) rs775818472 0.00081
NM_020745.4(AARS2):c.2598+11G>A rs376223052 0.00073
NM_020745.4(AARS2):c.2164C>T (p.Arg722Trp) rs145436818 0.00070
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.533C>T (p.Ala178Val) rs200343365 0.00043
NM_020745.4(AARS2):c.1569C>T (p.Ser523=) rs374173311 0.00042
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.1300+9G>T rs372864557 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.2683-10C>T rs372088350 0.00021
NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr) rs146765163 0.00016
NM_020745.4(AARS2):c.1661G>A (p.Arg554His) rs139280416 0.00014
NM_020745.4(AARS2):c.2365-16T>C rs367739956 0.00014
NM_020745.4(AARS2):c.2892C>T (p.Thr964=) rs371151506 0.00014
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln) rs139974034 0.00014
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.1867-6T>G rs370783971 0.00011
NM_020745.4(AARS2):c.1250G>A (p.Arg417Gln) rs200188616 0.00009
NM_020745.4(AARS2):c.435+9C>T rs199955037 0.00009
NM_020745.4(AARS2):c.940G>A (p.Glu314Lys) rs546851135 0.00009
NM_020745.4(AARS2):c.2730G>A (p.Thr910=) rs201616927 0.00007
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala) rs199919912 0.00007
NM_020745.4(AARS2):c.1474T>C (p.Leu492=) rs141076788 0.00006
NM_020745.4(AARS2):c.147C>T (p.Phe49=) rs766876544 0.00006
NM_020745.4(AARS2):c.1533C>T (p.Asp511=) rs372094957 0.00006
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.1626C>T (p.Asp542=) rs752676508 0.00005
NM_020745.4(AARS2):c.2097G>T (p.Val699=) rs779714788 0.00005
NM_020745.4(AARS2):c.2220C>T (p.Ala740=) rs147163018 0.00004
NM_020745.4(AARS2):c.2416C>T (p.Arg806Trp) rs200653667 0.00004
NM_020745.4(AARS2):c.244-7C>T rs200662122 0.00004
NM_020745.4(AARS2):c.60C>T (p.Pro20=) rs781361302 0.00004
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.1435-14T>C rs376986027 0.00003
NM_020745.4(AARS2):c.1926G>A (p.Leu642=) rs766170481 0.00003
NM_020745.4(AARS2):c.2283G>T (p.Gly761=) rs761550766 0.00003
NM_020745.4(AARS2):c.2679C>T (p.Leu893=) rs766642839 0.00003
NM_020745.4(AARS2):c.2861C>T (p.Ala954Val) rs747312867 0.00003
NM_020745.4(AARS2):c.436-4G>T rs750609705 0.00003
NM_020745.4(AARS2):c.1890G>A (p.Ala630=) rs757968286 0.00002
NM_020745.4(AARS2):c.2146-14C>T rs752755816 0.00002
NM_020745.4(AARS2):c.2445G>A (p.Ala815=) rs540249556 0.00002
NM_020745.4(AARS2):c.966C>T (p.Arg322=) rs774493482 0.00002
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.1584C>T (p.Phe528=) rs781363059 0.00001
NM_020745.4(AARS2):c.1644C>A (p.Ser548=) rs377764395 0.00001
NM_020745.4(AARS2):c.1764C>T (p.Phe588=) rs200425170 0.00001
NM_020745.4(AARS2):c.1867-13A>C rs747012040 0.00001
NM_020745.4(AARS2):c.2146-11C>T rs886061487 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.2406G>A (p.Ala802=) rs762616214 0.00001
NM_020745.4(AARS2):c.2488-16C>T rs764253221 0.00001
NM_020745.4(AARS2):c.2488-19G>A rs548669358 0.00001
NM_020745.4(AARS2):c.267C>T (p.Thr89=) rs752629942 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.639G>A (p.Gly213=) rs751373717 0.00001
NM_020745.4(AARS2):c.1037C>T (p.Pro346Leu)
NM_020745.4(AARS2):c.1040+10G>C rs2153355392
NM_020745.4(AARS2):c.1042C>T (p.Leu348=)
NM_020745.4(AARS2):c.1149+8C>T
NM_020745.4(AARS2):c.1150-18C>T
NM_020745.4(AARS2):c.1188+16G>A
NM_020745.4(AARS2):c.1189-16_1189-14del rs144914586
NM_020745.4(AARS2):c.120G>A (p.Ser40=)
NM_020745.4(AARS2):c.1249C>A (p.Arg417=)
NM_020745.4(AARS2):c.1257T>C (p.Ile419=) rs1583055571
NM_020745.4(AARS2):c.1281G>A (p.Gly427=) rs557359115
NM_020745.4(AARS2):c.1301-13T>G rs1057523445
NM_020745.4(AARS2):c.1317C>T (p.Ser439=)
NM_020745.4(AARS2):c.1350G>A (p.Leu450=)
NM_020745.4(AARS2):c.1434+14C>T
NM_020745.4(AARS2):c.1440G>A (p.Arg480=)
NM_020745.4(AARS2):c.1491T>C (p.His497=)
NM_020745.4(AARS2):c.1506G>A (p.Leu502=) rs2153354698
NM_020745.4(AARS2):c.1542C>G (p.Pro514=)
NM_020745.4(AARS2):c.1587C>T (p.Gly529=)
NM_020745.4(AARS2):c.1632A>G (p.Thr544=) rs2153354539
NM_020745.4(AARS2):c.1644C>T (p.Ser548=) rs377764395
NM_020745.4(AARS2):c.1662C>T (p.Arg554=) rs912274637
NM_020745.4(AARS2):c.1681A>C (p.Arg561=) rs958387642
NM_020745.4(AARS2):c.1710C>G (p.Gly570=) rs2153354504
NM_020745.4(AARS2):c.1752+8_1752+9del rs764521639
NM_020745.4(AARS2):c.1753-3C>T
NM_020745.4(AARS2):c.1753-6C>T
NM_020745.4(AARS2):c.1848G>A (p.Val616=) rs957556458
NM_020745.4(AARS2):c.1866+12C>T rs1057521008
NM_020745.4(AARS2):c.1936C>T (p.Leu646=)
NM_020745.4(AARS2):c.2007+9G>A
NM_020745.4(AARS2):c.2008-7C>G
NM_020745.4(AARS2):c.2008-9C>A
NM_020745.4(AARS2):c.2058G>A (p.Glu686=)
NM_020745.4(AARS2):c.2127C>G (p.Gly709=)
NM_020745.4(AARS2):c.2133C>A (p.Arg711=) rs1391642356
NM_020745.4(AARS2):c.2136T>C (p.Ser712=)
NM_020745.4(AARS2):c.2137C>T (p.Leu713=)
NM_020745.4(AARS2):c.2187C>T (p.Pro729=)
NM_020745.4(AARS2):c.2200T>C (p.Leu734=)
NM_020745.4(AARS2):c.2223A>G (p.Ala741=) rs2153354052
NM_020745.4(AARS2):c.222T>C (p.Phe74=) rs1583062512
NM_020745.4(AARS2):c.2255+12C>T
NM_020745.4(AARS2):c.2322C>T (p.Gly774=)
NM_020745.4(AARS2):c.234C>A (p.Gly78=) rs752238227
NM_020745.4(AARS2):c.2364+19C>G
NM_020745.4(AARS2):c.2365-10C>T
NM_020745.4(AARS2):c.2397A>G (p.Glu799=)
NM_020745.4(AARS2):c.244-13T>C
NM_020745.4(AARS2):c.2483T>C (p.Ile828Thr)
NM_020745.4(AARS2):c.2577C>T (p.Ile859=)
NM_020745.4(AARS2):c.2598+10G>T rs748931933
NM_020745.4(AARS2):c.2598+9_2598+11del rs773017457
NM_020745.4(AARS2):c.2622G>A (p.Leu874=)
NM_020745.4(AARS2):c.2643G>T (p.Gly881=)
NM_020745.4(AARS2):c.2682+10A>T
NM_020745.4(AARS2):c.2685G>C (p.Val895=)
NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp) rs145086947
NM_020745.4(AARS2):c.2722C>T (p.Pro908Ser) rs202149382
NM_020745.4(AARS2):c.2793+20A>G
NM_020745.4(AARS2):c.282C>T (p.Ser94=)
NM_020745.4(AARS2):c.2830C>T (p.Leu944=)
NM_020745.4(AARS2):c.2908C>T (p.Leu970=)
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.321A>G (p.Lys107=)
NM_020745.4(AARS2):c.348C>T (p.Asn116=)
NM_020745.4(AARS2):c.384T>C (p.His128=)
NM_020745.4(AARS2):c.46A>G (p.Ile16Val)
NM_020745.4(AARS2):c.486C>A (p.Ile162=)
NM_020745.4(AARS2):c.582-16C>G
NM_020745.4(AARS2):c.582-17C>G
NM_020745.4(AARS2):c.582-6C>T
NM_020745.4(AARS2):c.63A>C (p.Ala21=)
NM_020745.4(AARS2):c.651T>C (p.Pro217=)
NM_020745.4(AARS2):c.711G>A (p.Leu237=)
NM_020745.4(AARS2):c.726C>T (p.Asn242=) rs1786303047
NM_020745.4(AARS2):c.750-7T>C rs1057522139
NM_020745.4(AARS2):c.750-81del rs540341777
NM_020745.4(AARS2):c.846C>G (p.Ser282=)
NM_020745.4(AARS2):c.894+16_894+20del
NM_020745.4(AARS2):c.93A>T (p.Ser31=)
NM_020745.4(AARS2):c.96G>T (p.Ser32=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.