ClinVar Miner

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

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.1150-182C>T rs161706 0.89585
NM_020745.4(AARS2):c.1015A>G (p.Ile339Val) rs324136 0.89518
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.*1359A>G rs534416 0.87948
NM_020745.4(AARS2):c.2871A>G (p.Ser957=) rs325008 0.87930
NM_020745.4(AARS2):c.*341G>A rs4714775 0.87863
NM_020745.4(AARS2):c.*366T>C rs325010 0.87836
NM_020745.4(AARS2):c.2683-20A>G rs325007 0.87773
NM_020745.4(AARS2):c.*423G>A rs325011 0.87741
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.*1300C>T rs1123523 0.18616
NM_020745.4(AARS2):c.*1576A>G rs1056092 0.17434
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.2188G>A (p.Val730Met) rs35623954 0.03189
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.861C>A (p.Asp287Glu) rs115815965 0.01205
NM_020745.4(AARS2):c.*343G>A rs149050034 0.01086
NM_020745.4(AARS2):c.*1719T>C rs79454687 0.01085
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.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.750-5G>A rs78410483 0.00739
NM_020745.4(AARS2):c.*926C>T rs76458008 0.00663
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) rs78525157 0.00653
NM_020745.4(AARS2):c.2007+8C>T rs150125794 0.00599
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_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.2598+11G>A rs376223052 0.00073
NM_020745.4(AARS2):c.1558C>T (p.Leu520=) rs139032394 0.00066
NM_020745.4(AARS2):c.895-16C>T rs199695987 0.00039
NM_020745.4(AARS2):c.678C>T (p.Tyr226=) rs78135749 0.00023
NM_020745.4(AARS2):c.1579+8C>A rs367985989 0.00011
NM_020745.4(AARS2):c.882C>T (p.Asn294=) rs141636040 0.00005
NM_020745.4(AARS2):c.2416C>T (p.Arg806Trp) rs200653667 0.00004
NM_020745.4(AARS2):c.2679C>T (p.Leu893=) rs766642839 0.00003
NM_020745.4(AARS2):c.2952G>C (p.Gln984His) rs760967545 0.00001
NM_020745.4(AARS2):c.*1284del rs35562884
NM_020745.4(AARS2):c.*1473G>T rs116579451
NM_020745.4(AARS2):c.*1635_*1636insAA rs34687863
NM_020745.4(AARS2):c.*1710G>T rs1056093
NM_020745.4(AARS2):c.*555_*556insATAAA rs111990690
NM_020745.4(AARS2):c.*633_*634insGGTATGGGTGCCCT rs112092257
NM_020745.4(AARS2):c.1041-23G>C rs111839169
NM_020745.4(AARS2):c.1041-29A>G rs7740535
NM_020745.4(AARS2):c.1189-16_1189-14del rs144914586
NM_020745.4(AARS2):c.2255+35C>A rs325002
NM_020745.4(AARS2):c.2365-11C>A
NM_020745.4(AARS2):c.2522G>A (p.Arg841Gln)
NM_020745.4(AARS2):c.2556G>A (p.Gln852=)
NM_020745.4(AARS2):c.2598+130_2598+132del rs3831223
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA rs10627820
NM_020745.4(AARS2):c.895-64C>A rs41282670

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