ClinVar Miner

List of variants reported as benign for combined oxidative phosphorylation deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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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_001083614.2(EARS2):c.1369A>G (p.Ser457Gly) rs6497671 0.84008
NM_001083614.2(EARS2):c.606C>G (p.Val202=) rs2073951 0.83916
NM_001083614.2(EARS2):c.*12T>G rs1468138 0.83903
NM_001083614.2(EARS2):c.*1594C>T rs9707 0.82452
NM_001083614.2(EARS2):c.*1443C>G rs6497669 0.81426
NM_001083614.2(EARS2):c.264G>A (p.Ala88=) rs7187920 0.72546
NM_001083614.2(EARS2):c.1068-5C>T rs2072061 0.72406
NM_020745.4(AARS2):c.2607G>A (p.Lys869=) rs498512 0.67400
NM_152269.5(MTRFR):c.*515T>G rs1533703 0.64844
NM_152269.5(MTRFR):c.*198T>C rs1969354 0.62265
NM_024996.7(GFM1):c.*226C>T rs1047366 0.58206
NM_024996.7(GFM1):c.643G>A (p.Val215Ile) rs2303909 0.58201
NM_024996.7(GFM1):c.18T>C (p.Ala6=) rs1864507 0.58169
NM_152269.5(MTRFR):c.*483G>A rs1969355 0.57786
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_020745.4(AARS2):c.243+6G>A rs167772 0.50019
NM_024996.7(GFM1):c.*6C>T rs1047355 0.42265
NM_024996.7(GFM1):c.*691T>A rs8650 0.42246
NM_003321.5(TUFM):c.-55T>C rs7187776 0.41063
NM_003321.5(TUFM):c.817+13T>C rs4788099 0.34806
NM_003321.5(TUFM):c.*300T>G rs3088215 0.34801
NM_005726.6(TSFM):c.30T>C (p.Phe10=) rs10747783 0.26055
NM_020745.4(AARS2):c.*1300C>T rs1123523 0.18616
NM_024996.7(GFM1):c.-33C>T rs28372852 0.17766
NM_020745.4(AARS2):c.*1576A>G rs1056092 0.17434
NM_001083614.2(EARS2):c.*2156T>G rs13334957 0.08431
NM_145691.4(ATPAF2):c.*165C>T rs34673242 0.06601
NM_152269.5(MTRFR):c.273C>T (p.Ile91=) rs2280424 0.04534
NM_020745.4(AARS2):c.1753-14C>G rs74950428 0.03853
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115 0.03205
NM_020745.4(AARS2):c.2188G>A (p.Val730Met) rs35623954 0.03189
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545 0.03061
NM_003321.5(TUFM):c.198C>T (p.Ile66=) rs11542257 0.02831
NM_145691.4(ATPAF2):c.738G>A (p.Gln246=) rs33997182 0.02668
NM_003321.5(TUFM):c.*24C>T rs8754 0.02648
NM_024996.7(GFM1):c.*713C>T rs16829307 0.02621
NM_001083614.2(EARS2):c.984G>A (p.Pro328=) rs77939239 0.02510
NM_001083614.2(EARS2):c.*400A>G rs78770424 0.02484
NM_020191.4(MRPS22):c.283A>C (p.Ile95Leu) rs73866065 0.01879
NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln) rs35967387 0.01853
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln) rs78651634 0.01784
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_024996.7(GFM1):c.-11C>T rs112860155 0.01649
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) rs62288347 0.01504
NM_001083614.2(EARS2):c.*1498A>G rs113477773 0.01470
NM_001083614.2(EARS2):c.*1388C>T rs11864511 0.01468
NM_005726.6(TSFM):c.754G>A (p.Val252Ile) rs114694283 0.01391
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser) rs34297061 0.01346
NM_024996.7(GFM1):c.1601+9G>C rs77186707 0.01234
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu) rs115815965 0.01205
NM_001083614.2(EARS2):c.*2294T>C rs8046938 0.01163
NM_001083614.2(EARS2):c.*715G>A rs74014930 0.01133
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_001083614.2(EARS2):c.*755C>T rs11647557 0.01076
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln) rs34530313 0.01004
NM_024996.7(GFM1):c.1083+6T>G rs142919829 0.00965
NM_001083614.2(EARS2):c.1412A>C (p.Lys471Thr) rs137973249 0.00954
NM_020745.4(AARS2):c.749+14G>A rs74709196 0.00947
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_024996.7(GFM1):c.1209C>T (p.Ala403=) rs149949638 0.00899
NM_005726.6(TSFM):c.*958C>G rs57561819 0.00812
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) rs112247130 0.00812
NM_001083614.2(EARS2):c.*1362T>C rs7342735 0.00796
NM_001083614.2(EARS2):c.*1099A>G rs74014928 0.00787
NM_024996.7(GFM1):c.-31A>G rs28372853 0.00742
NM_005726.6(TSFM):c.*997G>C rs114214463 0.00703
NM_005726.6(TSFM):c.796C>A (p.Leu266Ile) rs62000432 0.00702
NM_005726.6(TSFM):c.5C>T (p.Ser2Leu) rs35957924 0.00698
NM_024996.7(GFM1):c.*766G>T rs114751518 0.00689
NM_020745.4(AARS2):c.*926C>T rs76458008 0.00663
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) rs78525157 0.00653
NM_001083614.2(EARS2):c.402C>T (p.Thr134=) rs116657756 0.00624
NM_020745.4(AARS2):c.2007+8C>T rs150125794 0.00599
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_145691.4(ATPAF2):c.*20C>G rs1128069 0.00519
NM_145691.4(ATPAF2):c.-147G>A rs75249497 0.00513
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_145691.4(ATPAF2):c.*456T>C rs77980072 0.00488
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly) rs113722817 0.00485
NM_145691.4(ATPAF2):c.*130T>C rs117739515 0.00300
NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly) rs34607655 0.00291
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245 0.00268
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_145691.4(ATPAF2):c.35G>A (p.Gly12Glu) rs149036879 0.00167
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_004208.4(AIFM1):c.-165G>A rs759015293 0.00092
NM_024996.7(GFM1):c.*731C>T rs189114088 0.00074
NM_001083614.2(EARS2):c.*1233C>T rs118168979 0.00072
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902 0.00051
NM_001083614.2(EARS2):c.580G>A (p.Val194Met) rs76634881 0.00040
NM_004208.4(AIFM1):c.262A>G (p.Met88Val) rs750098055 0.00023
NM_004208.4(AIFM1):c.968-14T>A rs201991839 0.00008
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg) rs574200635 0.00002
NM_001083614.2(EARS2):c.*380_*384del rs3071379
NM_001083614.2(EARS2):c.*535del rs11300207
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174
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

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