ClinVar Miner

List of variants studied 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: 534
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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.*535dup rs11300207 0.15238
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.*354G>A rs11057214 0.05128
NM_152269.5(MTRFR):c.*454A>C rs76029248 0.04557
NM_152269.5(MTRFR):c.*128C>A rs11554169 0.04556
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_003321.4(TUFM):c.-132G>A rs112029765 0.02019
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_024996.7(GFM1):c.*483_*484insTA rs10662631 0.01750
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_001083614.2(EARS2):c.*1327A>G rs72776116 0.01372
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_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_020745.4(AARS2):c.750-5G>A rs78410483 0.00739
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_024996.7(GFM1):c.*539C>T rs75254073 0.00563
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
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_020745.4(AARS2):c.*718C>A rs140359685 0.00491
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_001083614.2(EARS2):c.*555G>A rs190982783 0.00465
NM_003321.5(TUFM):c.*561A>T rs184878749 0.00435
NM_003321.5(TUFM):c.684+6C>T rs188421321 0.00419
NM_024996.7(GFM1):c.1593C>T (p.Ala531=) rs114754676 0.00399
NM_001083614.2(EARS2):c.*458C>T rs145856944 0.00379
NM_152269.5(MTRFR):c.*809A>C rs148902117 0.00373
NM_020191.4(MRPS22):c.741C>G (p.His247Gln) rs140631494 0.00357
NM_020745.4(AARS2):c.2033G>A (p.Arg678Gln) rs150973108 0.00340
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_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_005726.6(TSFM):c.24C>T (p.Arg8=) rs138461986 0.00209
NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser) rs146326033 0.00200
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00196
NM_024996.7(GFM1):c.960A>C (p.Pro320=) rs145970222 0.00196
NM_005726.6(TSFM):c.*291T>C rs191666277 0.00192
NM_001083614.2(EARS2):c.*1138G>A rs10239 0.00188
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
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_001083614.2(EARS2):c.1317G>A (p.Ser439=) rs74014932 0.00173
NM_145691.4(ATPAF2):c.35G>A (p.Gly12Glu) rs149036879 0.00167
NM_001083614.2(EARS2):c.813C>T (p.Phe271=) rs149664520 0.00162
NM_005726.6(TSFM):c.797T>A (p.Leu266His) rs146777264 0.00160
NM_020191.4(MRPS22):c.617C>T (p.Thr206Ile) rs76148008 0.00160
NM_003321.5(TUFM):c.520-13C>G rs115691896 0.00158
NM_020745.4(AARS2):c.*982G>A rs192274662 0.00158
NM_020745.4(AARS2):c.*448G>T rs565803591 0.00157
NM_001083614.2(EARS2):c.*91C>T rs141499212 0.00148
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) rs187662524 0.00146
NM_020745.4(AARS2):c.*256A>G rs182434401 0.00144
NM_001083614.2(EARS2):c.*914T>A rs185800148 0.00142
NM_003321.4(TUFM):c.-128G>C rs555362028 0.00129
NM_024996.7(GFM1):c.*950C>T rs372706819 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu) rs201929423 0.00118
NM_145691.4(ATPAF2):c.346T>C (p.Leu116=) rs144484457 0.00118
NM_024996.7(GFM1):c.*1004T>C rs190120734 0.00117
NM_003321.5(TUFM):c.520-8A>T rs145900455 0.00116
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_005726.6(TSFM):c.*210G>A rs112956536 0.00103
NM_145691.4(ATPAF2):c.*132C>T rs765325833 0.00102
NM_024996.7(GFM1):c.2070+11T>G rs150000838 0.00100
NM_004208.4(AIFM1):c.-165G>A rs759015293 0.00092
NM_001083614.2(EARS2):c.*2309G>A rs368686039 0.00090
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_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_020745.4(AARS2):c.*627G>A rs539810987 0.00085
NM_152269.5(MTRFR):c.243C>T (p.Cys81=) rs140411575 0.00081
NM_004208.4(AIFM1):c.-185G>A rs770317876 0.00080
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly) rs146951325 0.00080
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685 0.00078
NM_024996.7(GFM1):c.*731C>T rs189114088 0.00074
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) rs146512155 0.00073
NM_020745.4(AARS2):c.2598+11G>A rs376223052 0.00073
NM_001083614.2(EARS2):c.*1233C>T rs118168979 0.00072
NM_003321.5(TUFM):c.1120G>A (p.Val374Met) rs114590091 0.00071
NM_020191.4(MRPS22):c.327A>G (p.Ala109=) rs138148950 0.00071
NM_020191.4(MRPS22):c.938C>T (p.Ser313Leu) rs147932653 0.00066
NM_003321.5(TUFM):c.622G>A (p.Glu208Lys) rs143189885 0.00062
NM_152269.5(MTRFR):c.-51C>T rs115161149 0.00062
NM_001083614.2(EARS2):c.*1647C>T rs139837269 0.00061
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys) rs200132571 0.00060
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys) rs146924860 0.00060
NM_001083614.1(EARS2):c.-34C>G rs371224231 0.00058
NM_024996.7(GFM1):c.1324-15T>A rs375168014 0.00057
NM_145691.4(ATPAF2):c.*485G>A rs147889525 0.00056
NM_001083614.2(EARS2):c.*917C>T rs756961049 0.00054
NM_024996.7(GFM1):c.235-14G>A rs201304690 0.00053
NM_003321.5(TUFM):c.*445G>A rs542944452 0.00051
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902 0.00051
NM_001083614.2(EARS2):c.*1902A>C rs534093776 0.00048
NM_001083614.2(EARS2):c.*637A>G rs780830616 0.00048
NM_003321.4(TUFM):c.-81G>C rs573249163 0.00048
NM_003321.5(TUFM):c.558T>C (p.Ala186=) rs141728293 0.00047
NM_001083614.2(EARS2):c.*966G>C rs151312469 0.00046
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_020745.4(AARS2):c.1569C>T (p.Ser523=) rs374173311 0.00042
NM_005726.6(TSFM):c.688G>T (p.Val230Leu) rs151248026 0.00041
NM_001083614.2(EARS2):c.580G>A (p.Val194Met) rs76634881 0.00040
NM_145691.4(ATPAF2):c.-90C>A rs113286105 0.00040
NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly) rs143241583 0.00040
NM_024996.7(GFM1):c.-38C>T rs377352238 0.00037
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_145691.4(ATPAF2):c.-85C>T rs533220549 0.00033
NM_005726.6(TSFM):c.814G>C (p.Asp272His) rs138911653 0.00030
NM_017866.5(TMEM70):c.-95C>T rs556447943 0.00030
NM_003321.5(TUFM):c.759C>T (p.Pro253=) rs185379779 0.00029
NM_024996.7(GFM1):c.1494A>G (p.Glu498=) rs149454742 0.00029
NM_145691.4(ATPAF2):c.-107G>A rs371822840 0.00029
NM_145691.4(ATPAF2):c.*138G>A rs760080344 0.00028
NM_001083614.2(EARS2):c.*1408A>G rs571312854 0.00027
NM_001083614.2(EARS2):c.*1808G>A rs557923021 0.00027
NM_020191.4(MRPS22):c.787C>T (p.Arg263Cys) rs147739245 0.00027
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) rs190393538 0.00026
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_152269.5(MTRFR):c.336A>G (p.Leu112=) rs138538426 0.00025
NM_003321.5(TUFM):c.427G>A (p.Gly143Ser) rs34283928 0.00024
NM_145691.4(ATPAF2):c.*526C>T rs780010191 0.00024
NM_004208.4(AIFM1):c.262A>G (p.Met88Val) rs750098055 0.00023
NM_024996.7(GFM1):c.1305C>G (p.Ala435=) rs141368418 0.00023
NM_024996.7(GFM1):c.373G>A (p.Val125Met) rs200923387 0.00023
NM_004208.4(AIFM1):c.-140C>G rs770737305 0.00022
NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr) rs202171981 0.00021
NM_020745.4(AARS2):c.2683-10C>T rs372088350 0.00021
NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser) rs141020107 0.00021
NM_004208.4(AIFM1):c.1644G>A (p.Pro548=) rs150821143 0.00020
NM_001083614.2(EARS2):c.280A>G (p.Met94Val) rs200139797 0.00019
NM_001083614.2(EARS2):c.873C>T (p.Asp291=) rs61742045 0.00019
NM_020745.4(AARS2):c.*1811C>T rs546498237 0.00019
NM_020745.4(AARS2):c.*408G>C rs780339845 0.00019
NM_020191.4(MRPS22):c.6G>A (p.Ala2=) rs144902770 0.00018
NM_152269.5(MTRFR):c.*211C>T rs749221383 0.00018
NM_003321.5(TUFM):c.*229G>A rs558681318 0.00016
NM_005726.6(TSFM):c.*381C>T rs528226687 0.00016
NM_005726.6(TSFM):c.361-12T>G rs368313488 0.00016
NM_020745.4(AARS2):c.*1473del rs766302064 0.00016
NM_145691.4(ATPAF2):c.*250C>T rs141638018 0.00016
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_003321.5(TUFM):c.6C>T (p.Thr2=) rs751421456 0.00015
NM_003321.5(TUFM):c.760G>A (p.Ala254Thr) rs138917503 0.00015
NM_020745.4(AARS2):c.*1293A>G rs1054092802 0.00015
NM_001083614.2(EARS2):c.*180A>G rs780381864 0.00014
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_152269.5(MTRFR):c.112G>A (p.Val38Ile) rs146534475 0.00014
NM_001083614.2(EARS2):c.949G>T (p.Gly317Cys) rs746838793 0.00013
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_024996.7(GFM1):c.*429C>T rs914802350 0.00012
NM_001083614.2(EARS2):c.351A>G (p.Gln117=) rs375906347 0.00011
NM_003321.5(TUFM):c.*398G>A rs560701501 0.00011
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe) rs376562033 0.00011
NM_020191.4(MRPS22):c.652A>G (p.Met218Val) rs201627731 0.00011
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00011
NM_152269.5(MTRFR):c.*761G>A rs551684840 0.00011
NM_152269.5(MTRFR):c.56C>T (p.Ala19Val) rs140452371 0.00011
NM_001083614.2(EARS2):c.1489-14C>T rs369770210 0.00010
NM_001083614.2(EARS2):c.558G>A (p.Ala186=) rs374363396 0.00010
NM_003321.5(TUFM):c.-44G>T rs781545296 0.00010
NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr) rs772308346 0.00010
NM_005726.6(TSFM):c.*412C>T rs184926061 0.00010
NM_020191.4(MRPS22):c.340-14T>A rs377459479 0.00010
NM_024996.7(GFM1):c.*1033A>G rs919876624 0.00010
NM_024996.7(GFM1):c.*578C>T rs758670778 0.00010
NM_152269.5(MTRFR):c.*143G>T rs886049042 0.00010
NM_001083614.2(EARS2):c.*1809T>C rs886051825 0.00009
NM_003321.5(TUFM):c.*60T>G rs545220973 0.00009
NM_003321.5(TUFM):c.1195-3T>C rs376169369 0.00009
NM_003321.5(TUFM):c.619A>C (p.Thr207Pro) rs372069941 0.00009
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745 0.00009
NM_004208.4(AIFM1):c.366A>G (p.Glu122=) rs756883753 0.00009
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_001083614.2(EARS2):c.*1027G>A rs932873198 0.00008
NM_004208.4(AIFM1):c.968-14T>A rs201991839 0.00008
NM_005726.6(TSFM):c.*262T>A rs758314098 0.00008
NM_020191.4(MRPS22):c.799T>C (p.Tyr267His) rs762299963 0.00008
NM_020745.4(AARS2):c.*1310T>C rs553722790 0.00008
NM_020745.4(AARS2):c.82C>G (p.Arg28Gly) rs758360552 0.00008
NM_024996.7(GFM1):c.1948A>G (p.Met650Val) rs147847472 0.00008
NM_001083614.2(EARS2):c.246C>T (p.Arg82=) rs531061994 0.00007
NM_003321.5(TUFM):c.810C>T (p.Ser270=) rs528294620 0.00007
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397 0.00007
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_001083614.1(EARS2):c.-19G>A rs377067442 0.00006
NM_001083614.2(EARS2):c.1488+15C>T rs201607271 0.00006
NM_003321.5(TUFM):c.*110A>G rs753564296 0.00006
NM_003321.5(TUFM):c.470A>G (p.Asn157Ser) rs201756974 0.00006
NM_003321.5(TUFM):c.684+8C>T rs117782882 0.00006
NM_005726.6(TSFM):c.*176T>C rs765248918 0.00006
NM_005726.6(TSFM):c.140A>G (p.Lys47Arg) rs373659284 0.00006
NM_020191.4(MRPS22):c.172+7G>T rs777163637 0.00006
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_024996.7(GFM1):c.*164C>A rs924668466 0.00006
NM_145691.4(ATPAF2):c.113G>T (p.Arg38Leu) rs1052960618 0.00006
NM_152269.5(MTRFR):c.*439C>T rs1464561680 0.00006
NM_152269.5(MTRFR):c.*674A>G rs886049044 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_024996.7(GFM1):c.234+12C>T rs372189223 0.00005
NM_024996.7(GFM1):c.702A>G (p.Arg234=) rs377418512 0.00005
NM_145691.4(ATPAF2):c.250G>A (p.Glu84Lys) rs373144265 0.00005
NM_001083614.2(EARS2):c.*1904A>G rs1196221265 0.00004
NM_001083614.2(EARS2):c.667G>A (p.Asp223Asn) rs746087016 0.00004
NM_003321.5(TUFM):c.35C>G (p.Ala12Gly) rs559685074 0.00004
NM_020745.4(AARS2):c.60C>T (p.Pro20=) rs781361302 0.00004
NM_024996.7(GFM1):c.596C>T (p.Ala199Val) rs145247687 0.00004
NM_152269.5(MTRFR):c.*212G>A rs1189843224 0.00004
NM_152269.5(MTRFR):c.*747G>A rs886049048 0.00004
NM_152269.5(MTRFR):c.*869T>C rs1419363631 0.00004
NM_152269.5(MTRFR):c.181G>A (p.Glu61Lys) rs768652922 0.00004
NM_001083614.2(EARS2):c.*2193A>G rs567856922 0.00003
NM_003321.5(TUFM):c.*349G>A rs749982691 0.00003
NM_003321.5(TUFM):c.*517G>C rs886051875 0.00003
NM_003321.5(TUFM):c.922+8A>G rs760803572 0.00003
NM_005726.6(TSFM):c.*182T>G rs188261377 0.00003
NM_005726.6(TSFM):c.787A>T (p.Met263Leu) rs764183902 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
NM_020191.4(MRPS22):c.166G>A (p.Glu56Lys) rs1057269467 0.00003
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_024996.7(GFM1):c.1852A>G (p.Met618Val) rs767798328 0.00003
NM_001083614.2(EARS2):c.*713T>C rs886051828 0.00002
NM_001083614.2(EARS2):c.1071G>A (p.Leu357=) rs769677259 0.00002
NM_001083614.2(EARS2):c.1352G>T (p.Gly451Val) rs201181229 0.00002
NM_001083614.2(EARS2):c.403G>A (p.Gly135Arg) rs762685823 0.00002
NM_001083614.2(EARS2):c.851A>G (p.Lys284Arg) rs760964412 0.00002
NM_003321.5(TUFM):c.1A>G (p.Met1Val) rs759426337 0.00002
NM_003321.5(TUFM):c.975C>T (p.Leu325=) rs757569717 0.00002
NM_004208.4(AIFM1):c.248A>G (p.Tyr83Cys) rs1488258655 0.00002
NM_005726.6(TSFM):c.*656A>G rs985828528 0.00002
NM_005726.6(TSFM):c.*895A>G rs58949411 0.00002
NM_005726.6(TSFM):c.322G>A (p.Gly108Arg) rs374679403 0.00002
NM_020191.4(MRPS22):c.172+11T>C rs374112977 0.00002
NM_020191.4(MRPS22):c.502C>T (p.Arg168Trp) rs544369132 0.00002
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_024996.7(GFM1):c.*119G>A rs886058122 0.00002
NM_024996.7(GFM1):c.*559T>C rs886058124 0.00002
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg) rs574200635 0.00002
NM_152269.4(MTRFR):c.-128C>T rs886049039 0.00002
NM_152269.5(MTRFR):c.34C>T (p.Pro12Ser) rs751310720 0.00002
NM_001083614.2(EARS2):c.*2105C>G rs550393372 0.00001
NM_001083614.2(EARS2):c.1193A>G (p.Tyr398Cys) rs571483034 0.00001
NM_001083614.2(EARS2):c.1491A>G (p.Gln497=) rs745678462 0.00001
NM_001083614.2(EARS2):c.197A>T (p.Lys66Met) rs779972107 0.00001
NM_003321.5(TUFM):c.*270C>T rs867305584 0.00001
NM_003321.5(TUFM):c.*37G>A rs375508343 0.00001
NM_003321.5(TUFM):c.-37C>T rs886051877 0.00001
NM_003321.5(TUFM):c.12G>T (p.Met4Ile) rs766371467 0.00001
NM_003321.5(TUFM):c.166C>G (p.Arg56Gly) rs1283449085 0.00001
NM_003321.5(TUFM):c.568C>T (p.Gln190Ter) rs764968635 0.00001
NM_003321.5(TUFM):c.581T>C (p.Met194Thr) rs1961891464 0.00001
NM_003321.5(TUFM):c.595G>C (p.Glu199Gln) rs1961890988 0.00001
NM_003321.5(TUFM):c.800C>T (p.Ala267Val) rs777415739 0.00001
NM_003321.5(TUFM):c.894T>C (p.His298=) rs780273573 0.00001
NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala) rs1356446773 0.00001
NM_004208.4(AIFM1):c.1647A>G (p.Ala549=) rs1057515767 0.00001
NM_004208.4(AIFM1):c.858+13T>G rs769724106 0.00001
NM_005726.6(TSFM):c.*461T>C rs886049733 0.00001
NM_005726.6(TSFM):c.*554A>G rs144070678 0.00001
NM_005726.6(TSFM):c.*866T>G rs1397583217 0.00001
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly) rs542571914 0.00001
NM_005726.6(TSFM):c.361-14A>G rs759604491 0.00001
NM_005726.6(TSFM):c.484-11C>T rs752312466 0.00001
NM_005726.6(TSFM):c.48G>A (p.Gly16=) rs780011862 0.00001
NM_005726.6(TSFM):c.520G>T (p.Ala174Ser) rs886049731 0.00001
NM_016065.3(MRPS16):c.-183A>G rs886047203 0.00001
NM_020191.4(MRPS22):c.732G>A (p.Lys244=) rs755022329 0.00001
NM_020191.4(MRPS22):c.90G>A (p.Gln30=) rs772766573 0.00001
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_024996.7(GFM1):c.1118G>A (p.Ser373Asn) rs1023544297 0.00001
NM_024996.7(GFM1):c.1910-1G>A rs1462851267 0.00001
NM_024996.7(GFM1):c.424del (p.Val142fs) rs886058120 0.00001
NM_024996.7(GFM1):c.897C>T (p.Ser299=) rs763546447 0.00001
NM_145691.4(ATPAF2):c.*54C>T rs547389437 0.00001
NM_145691.4(ATPAF2):c.-1G>T rs886052665 0.00001
NM_145691.4(ATPAF2):c.422+11T>C rs776986750 0.00001
NM_152269.4(MTRFR):c.-132A>G rs1025491766 0.00001
NM_152269.4(MTRFR):c.-206G>T rs886049038 0.00001
NM_152269.5(MTRFR):c.*13A>C rs527540475 0.00001
NM_152269.5(MTRFR):c.*195G>A rs139881564 0.00001
NM_152269.5(MTRFR):c.*853C>G rs1039664652 0.00001
NM_152269.5(MTRFR):c.*887T>A rs1348487479 0.00001
NM_152269.5(MTRFR):c.353T>C (p.Val118Ala) rs767743830 0.00001
NM_152269.5(MTRFR):c.90G>A (p.Thr30=) rs775127232 0.00001
NM_001083614.2(EARS2):c.*1048del rs750087699
NM_001083614.2(EARS2):c.*1082T>C rs1207271464
NM_001083614.2(EARS2):c.*1435C>A rs886051827
NM_001083614.2(EARS2):c.*155A>G rs886051830
NM_001083614.2(EARS2):c.*15G>C rs200936622
NM_001083614.2(EARS2):c.*1720G>A rs886051826
NM_001083614.2(EARS2):c.*1902dup rs79556186
NM_001083614.2(EARS2):c.*380_*384del rs3071379
NM_001083614.2(EARS2):c.*383GA[1] rs200036419
NM_001083614.2(EARS2):c.*535del rs11300207
NM_001083614.2(EARS2):c.*824G>A rs566896041
NM_001083614.2(EARS2):c.*936T>C rs532554451
NM_001083614.2(EARS2):c.102G>T (p.Gly34=) rs1597032670
NM_001083614.2(EARS2):c.1409A>G (p.Lys470Arg) rs774269217
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile) rs201941745
NM_001083614.2(EARS2):c.263C>T (p.Ala88Val) rs201929423
NM_001083614.2(EARS2):c.874G>A (p.Val292Ile) rs199575087
NM_001083614.2(EARS2):c.959-15C>T rs554499460
NM_001083614.2(EARS2):c.994A>C (p.Thr332Pro) rs1366954580
NM_003321.5(TUFM):c.*149G>C rs886051876
NM_003321.5(TUFM):c.*370T>G rs567224368
NM_003321.5(TUFM):c.*433T>C rs527678767
NM_003321.5(TUFM):c.-57TCT[2] rs147419027
NM_003321.5(TUFM):c.-61C>T rs570963386
NM_003321.5(TUFM):c.248-13T>G rs775737562
NM_003321.5(TUFM):c.519+14G>C rs767512015
NM_003321.5(TUFM):c.519+15G>A rs758912548
NM_003321.5(TUFM):c.825C>G (p.Gly275=) rs1596602330
NM_003321.5(TUFM):c.923-9C>A rs763468042
NM_004208.4(AIFM1):c.*49C>T rs1057515766
NM_004208.4(AIFM1):c.-90G>C rs780436043
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174
NM_004208.4(AIFM1):c.697-4C>T rs2030541270
NM_005726.6(TSFM):c.*20C>T rs886049732
NM_005726.6(TSFM):c.*491G>A rs1955751830
NM_005726.6(TSFM):c.*558C>T rs1955752539
NM_005726.6(TSFM):c.*561A>C rs886049734
NM_005726.6(TSFM):c.*98A>G rs1955745507
NM_005726.6(TSFM):c.232-8A>G rs768661125
NM_005726.6(TSFM):c.233C>T (p.Ala78Val) rs886049729
NM_005726.6(TSFM):c.375A>G (p.Thr125=) rs886049730
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
NM_016065.4(MRPS16):c.*1291_*1293del rs767465725
NM_016065.4(MRPS16):c.*1503A>G rs2018198
NM_016065.4(MRPS16):c.*450del rs886047196
NM_016065.4(MRPS16):c.*633dup rs555061429
NM_016065.4(MRPS16):c.*854_*856del rs886047188
NM_016065.4(MRPS16):c.-120_-118del rs574159820
NM_016065.4(MRPS16):c.-85GT[1] rs886047201
NM_016065.4(MRPS16):c.275-5T>G rs763591161
NM_020191.4(MRPS22):c.1045T>A (p.Tyr349Asn) rs886058024
NM_020191.4(MRPS22):c.648+19del rs773240427
NM_020191.4(MRPS22):c.64C>G (p.Arg22Gly) rs1176249861
NM_020191.4(MRPS22):c.878+13T>C rs1941178559
NM_020191.4(MRPS22):c.987+15del rs372892045
NM_020745.4(AARS2):c.*1045G>A rs527281365
NM_020745.4(AARS2):c.*1112dup rs112521684
NM_020745.4(AARS2):c.*1252A>C rs886061482
NM_020745.4(AARS2):c.*1284_*1287del rs201274623
NM_020745.4(AARS2):c.*1284del rs35562884
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.*1635_*1636insAA rs34687863
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.*555_*556insATAAA rs111990690
NM_020745.4(AARS2):c.*633_*634insGGTATGGGTGCCCT rs112092257
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.1189-16_1189-14del rs144914586
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
NM_024996.7(GFM1):c.*116C>T rs115593809
NM_024996.7(GFM1):c.*245A>C rs886058123
NM_024996.7(GFM1):c.*454_*456del rs367730845
NM_024996.7(GFM1):c.*572A>G rs1726365121
NM_024996.7(GFM1):c.*635A>T rs1398384267
NM_024996.7(GFM1):c.*803T>C rs1726381360
NM_024996.7(GFM1):c.-66C>G rs564879457
NM_024996.7(GFM1):c.-73C>T rs116614958
NM_024996.7(GFM1):c.-85C>T rs893145449
NM_024996.7(GFM1):c.1083+3A>G rs187690169
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr) rs200244667
NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly) rs886058121
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp) rs750855220
NM_024996.7(GFM1):c.1518+1G>A rs1560135491
NM_024996.7(GFM1):c.193C>A (p.Arg65=) rs62286651
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln) rs1202361363
NM_024996.7(GFM1):c.81+5C>T rs886058119
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_024996.7(GFM1):c.987C>A (p.Leu329=) rs531887279
NM_145691.4(ATPAF2):c.*108C>T rs551939105
NM_145691.4(ATPAF2):c.*137C>T rs1346345212
NM_145691.4(ATPAF2):c.*194C>A rs143710995
NM_145691.4(ATPAF2):c.*26G>C rs2044417447
NM_145691.4(ATPAF2):c.*337T>C rs886052664
NM_145691.4(ATPAF2):c.*378A>T rs530700735
NM_145691.4(ATPAF2):c.-107G>T rs371822840
NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu) rs759676953
NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly) rs141827488
NM_152269.4(MTRFR):c.-166T>C rs1314198112
NM_152269.5(MTRFR):c.*139A>C rs886049041
NM_152269.5(MTRFR):c.*14del rs886049040
NM_152269.5(MTRFR):c.*159G>A rs2048192268
NM_152269.5(MTRFR):c.*374A>G rs2048195019
NM_152269.5(MTRFR):c.*468C>T rs886049043
NM_152269.5(MTRFR):c.*647G>C rs565651935
NM_152269.5(MTRFR):c.*696_*699del rs202152701
NM_152269.5(MTRFR):c.*702CAGT[1] rs886049046
NM_152269.5(MTRFR):c.*711_*713del rs148010033
NM_152269.5(MTRFR):c.304G>A (p.Asp102Asn) rs1565999184
NM_152269.5(MTRFR):c.486T>G (p.Ser162Arg) rs371852394

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