ClinVar Miner

List of variants in gene combination AARS2, POLR1C reported as benign for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.1015A>G (p.Ile339Val) rs324136 0.89518
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.243+6G>A rs167772 0.50019
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.1753-14C>G rs74950428 0.03853
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.420G>A (p.Gly140=) rs75506489 0.01671
NM_020745.4(AARS2):c.2440G>A (p.Val814Met) rs111325758 0.01670
NM_020745.4(AARS2):c.1753-13T>C rs80339975 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.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.*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.*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.1041-29A>G rs7740535
NM_020745.4(AARS2):c.2255+35C>A rs325002
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA rs10627820

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