ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 8 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
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.*423G>A rs325011 0.87741
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.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.*718C>A rs140359685 0.00491
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.*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.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.2598+11G>A rs376223052 0.00073
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys) rs146924860 0.00060
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.*1293A>G rs1054092802 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.*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.*1706C>T rs767571924 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.*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.*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.60C>T (p.Pro20=) rs781361302 0.00004
NM_020745.4(AARS2):c.*317G>A rs1468335658 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.22G>T (p.Ala8Ser) rs886061491 0.00003
NM_020745.4(AARS2):c.2679C>T (p.Leu893=) rs766642839 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.2221G>A (p.Ala741Thr) rs536579476 0.00002
NM_020745.4(AARS2):c.2297T>G (p.Ile766Ser) rs200410313 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.1788T>C (p.Cys596=) rs201849519 0.00001
NM_020745.4(AARS2):c.2005C>A (p.Gln669Lys) rs781702000 0.00001
NM_020745.4(AARS2):c.2146-11C>T rs886061487 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.426A>G (p.Glu142=) rs779650766 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.*1252A>C rs886061482
NM_020745.4(AARS2):c.*1326A>G rs370057942
NM_020745.4(AARS2):c.*1473G>T rs116579451
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.*1710G>T rs1056093
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.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.1387C>T (p.Gln463Ter) rs1561940254
NM_020745.4(AARS2):c.1644C>T (p.Ser548=) rs377764395
NM_020745.4(AARS2):c.1682G>C (p.Arg561Thr) rs886061488
NM_020745.4(AARS2):c.2202G>A (p.Leu734=) rs886061486
NM_020745.4(AARS2):c.25G>A (p.Ala9Thr) rs537231845
NM_020745.4(AARS2):c.2636C>G (p.Ser879Trp) rs770826503
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.2794G>A (p.Gly932Ser) rs886061485
NM_020745.4(AARS2):c.2937C>G (p.Thr979=) rs200778121
NM_020745.4(AARS2):c.408T>C (p.Asn136=) rs886061490
NM_020745.4(AARS2):c.57G>C (p.Ser19=) rs1049916671
NM_020745.4(AARS2):c.750-9C>T rs1786252044
NM_020745.4(AARS2):c.879C>T (p.Leu293=) rs886061489

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