ClinVar Miner

List of variants reported as benign for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 293
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HGVS dbSNP gnomAD frequency
NM_005932.4(MIPEP):c.1462A>G (p.Ser488Gly) rs7333040 0.98618
NM_213649.2(SFXN4):c.472-24T>A rs2420494 0.98520
NM_213649.2(SFXN4):c.354A>G (p.Ala118=) rs2181118 0.98355
NM_033109.5(PNPT1):c.1247+29C>T rs782604 0.93874
NM_033109.5(PNPT1):c.867-47T>A rs782631 0.92991
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_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_024537.4(CARS2):c.987+292T>G rs376834 0.81351
NM_012473.4(TXN2):c.387+30A>C rs2281082 0.77835
NM_024537.4(CARS2):c.987+247T>C rs2296658 0.77296
NM_024537.4(CARS2):c.852A>G (p.Glu284=) rs4628819 0.77143
NM_024678.6(NARS2):c.260A>C (p.Asn87Thr) rs10501429 0.76474
NM_032620.4(GTPBP3):c.749T>C (p.Val250Ala) rs3810206 0.73925
NM_001083614.2(EARS2):c.1352+25G>A rs2072062 0.73904
NM_032620.4(GTPBP3):c.198A>C (p.Thr66=) rs1864112 0.73888
NM_001083614.2(EARS2):c.264G>A (p.Ala88=) rs7187920 0.72546
NM_001083614.2(EARS2):c.1068-5C>T rs2072061 0.72406
NM_024678.6(NARS2):c.414T>C (p.Tyr138=) rs10751296 0.71183
NM_020745.4(AARS2):c.2607G>A (p.Lys869=) rs498512 0.67400
NM_015971.4(MRPS7):c.5C>T (p.Ala2Val) rs8075276 0.67348
NM_020442.6(VARS2):c.3033C>T (p.Asp1011=) rs1043483 0.66272
NM_152269.5(MTRFR):c.*515T>G rs1533703 0.64844
NM_152269.5(MTRFR):c.*198T>C rs1969354 0.62265
NM_032620.4(GTPBP3):c.974+38G>A rs4808623 0.62097
NM_024537.3(CARS2):c.-48C>T rs3818496 0.59027
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_001379210.1(SLC25A26):c.623C>T (p.Thr208Met) rs13874 0.57380
NM_001379210.1(SLC25A26):c.498+13G>A rs332354 0.54714
NM_017909.4(RMND1):c.1002+47T>G rs6912830 0.54650
NM_020442.6(VARS2):c.-28+82T>C rs1264306 0.52561
NM_020442.6(VARS2):c.2186-10T>C rs753725 0.50613
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg) rs2249464 0.50569
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_020745.4(AARS2):c.243+6G>A rs167772 0.50019
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=) rs2627765 0.48848
NM_213649.2(SFXN4):c.415-6C>T rs2275111 0.48143
NM_213649.2(SFXN4):c.258A>G (p.Gln86=) rs10749291 0.46610
NM_017646.6(TRIT1):c.33C>T (p.Pro11=) rs3845570 0.45704
NM_033109.5(PNPT1):c.1074-19A>G rs782637 0.45197
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val) rs782572 0.44915
NM_001379210.1(SLC25A26):c.122G>A (p.Ser41Asn) rs146159281 0.43643
NM_018292.5(QRSL1):c.381-47A>C rs9486434 0.43311
NM_018292.5(QRSL1):c.1425G>A (p.Leu475=) rs2015205 0.43247
NM_024996.7(GFM1):c.81+84C>G rs1864505 0.42613
NM_024537.4(CARS2):c.1239T>C (p.Asp413=) rs436462 0.42363
NM_024996.7(GFM1):c.*6C>T rs1047355 0.42265
NM_017909.4(RMND1):c.689+17A>G rs6904364 0.42255
NM_024996.7(GFM1):c.*691T>A rs8650 0.42246
NM_024996.7(GFM1):c.690-87A>G rs9810874 0.42203
NM_024996.7(GFM1):c.1083+82T>C rs9884039 0.42175
NM_003321.5(TUFM):c.-55T>C rs7187776 0.41063
NM_004564.3(GATB):c.176+7T>C rs1429559 0.40922
NM_006567.5(FARS2):c.1217+40158C>T rs4960122 0.40713
NM_024996.7(GFM1):c.1083+57C>T rs62286656 0.36155
NM_024996.7(GFM1):c.81+22A>G rs1864506 0.35797
NM_003321.5(TUFM):c.817+13T>C rs4788099 0.34806
NM_003321.5(TUFM):c.922+29C>G rs61737565 0.34806
NM_003321.5(TUFM):c.*300T>G rs3088215 0.34801
NM_018127.7(ELAC2):c.1305-8T>C rs3760316 0.32355
NM_006576.4(AVIL):c.1963-316C>T rs10783847 0.29936
NM_006576.4(AVIL):c.1963-397C>T rs10783848 0.29848
NM_213649.2(SFXN4):c.361-42C>T rs2275112 0.29607
NM_025150.5(TARS2):c.1719-47C>T rs3738487 0.29599
NM_213649.2(SFXN4):c.617-3C>T rs17668734 0.28961
NM_020408.6(LYRM4):c.31T>G (p.Ser11Ala) rs2224391 0.28790
NM_020442.6(VARS2):c.2038G>T (p.Val680Leu) rs2074506 0.27888
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_018127.7(ELAC2):c.297-11T>C rs58809197 0.27292
NM_018127.7(ELAC2):c.1218+15C>T rs55825263 0.26965
NM_018127.7(ELAC2):c.1304+17A>T rs55674356 0.26960
NM_005726.6(TSFM):c.30T>C (p.Phe10=) rs10747783 0.26055
NM_032620.4(GTPBP3):c.974+37G>C rs11669718 0.24676
NM_003321.5(TUFM):c.248-18G>A rs8061877 0.24423
NM_024537.4(CARS2):c.417C>T (p.Leu139=) rs2304767 0.23275
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln) rs9394021 0.22711
NM_020442.6(VARS2):c.1272C>T (p.Ser424=) rs2285319 0.22709
NM_013337.4(TIMM22):c.508+45A>G rs12941159 0.22287
NM_005932.4(MIPEP):c.1970+20A>C rs11620036 0.20535
NM_012123.4(MTO1):c.1180T>C (p.Leu394=) rs2036039 0.20359
NM_020745.4(AARS2):c.*1300C>T rs1123523 0.18616
NM_024996.7(GFM1):c.689+891C>T rs56167308 0.17770
NM_024996.7(GFM1):c.-33C>T rs28372852 0.17766
NM_020745.4(AARS2):c.*1576A>G rs1056092 0.17434
NM_024996.7(GFM1):c.1323+83A>G rs2291595 0.15507
NM_024537.4(CARS2):c.1664A>C (p.Gln555Pro) rs1043886 0.10889
NM_024996.7(GFM1):c.1323+72A>G rs2291594 0.10832
NM_023936.2(MRPS34):c.97C>A (p.Leu33Ile) rs11552431 0.10486
NM_017909.4(RMND1):c.125G>T (p.Ser42Ile) rs11550103 0.09721
NM_001136193.2(FASTKD2):c.1898+26G>A rs76270461 0.08765
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=) rs17552022 0.08581
NM_018127.7(ELAC2):c.491-14T>C rs74556312 0.08556
NM_001083614.2(EARS2):c.*2156T>G rs13334957 0.08431
NM_024537.4(CARS2):c.538A>T (p.Ile180Phe) rs72661692 0.07201
NM_001083614.2(EARS2):c.1488+34G>A rs75133940 0.06846
NM_145691.4(ATPAF2):c.*165C>T rs34673242 0.06601
NM_152269.5(MTRFR):c.273C>T (p.Ile91=) rs2280424 0.04534
NM_012123.4(MTO1):c.1918-7T>G rs73452515 0.04248
NM_020745.4(AARS2):c.1753-14C>G rs74950428 0.03853
NM_018127.7(ELAC2):c.798-20G>T rs77528900 0.03735
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_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
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_006567.5(FARS2):c.339C>T (p.Tyr113=) rs41302853 0.02609
NM_001083614.2(EARS2):c.984G>A (p.Pro328=) rs77939239 0.02510
NM_001083614.2(EARS2):c.*400A>G rs78770424 0.02484
NM_018127.7(ELAC2):c.2130C>T (p.Ser710=) rs7217826 0.02093
NM_001379210.1(SLC25A26):c.*3C>A rs116677829 0.02088
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_017646.6(TRIT1):c.1098C>T (p.Ile366=) rs16826617 0.01691
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_024537.4(CARS2):c.647G>A (p.Gly216Glu) rs146773721 0.01595
NM_001136193.2(FASTKD2):c.*9T>C rs10194665 0.01553
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_018127.7(ELAC2):c.1389C>T (p.Tyr463=) rs77972324 0.01451
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_001136193.2(FASTKD2):c.1254+9A>C rs10177169 0.01315
NM_024537.4(CARS2):c.1132C>T (p.Arg378Cys) rs79081036 0.01302
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_139242.4(MTFMT):c.796C>T (p.Arg266Cys) rs35302908 0.00884
NM_017909.4(RMND1):c.783C>T (p.Ile261=) rs17081207 0.00841
NM_006567.5(FARS2):c.102G>A (p.Ser34=) rs113155624 0.00836
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405 0.00823
NM_006576.4(AVIL):c.*341G>C 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_018127.7(ELAC2):c.1479G>C (p.Pro493=) rs140335642 0.00771
NM_024996.7(GFM1):c.-31A>G rs28372853 0.00742
NM_024537.4(CARS2):c.1624-12C>G rs115116722 0.00724
NM_006576.4(AVIL):c.*302C>G 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_018127.7(ELAC2):c.368-4T>A rs139778647 0.00657
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_024537.4(CARS2):c.1681A>G (p.Lys561Glu) rs188068027 0.00590
NM_024537.4(CARS2):c.1317+10C>T rs141996297 0.00555
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_018127.7(ELAC2):c.1305-9_1305-8insCTC rs370493014 0.00515
NM_145691.4(ATPAF2):c.-147G>A rs75249497 0.00513
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
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_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
NM_012123.4(MTO1):c.1368T>C (p.Thr456=) rs115654622 0.00454
NM_024537.4(CARS2):c.1054+8G>A rs374859 0.00434
NM_024537.4(CARS2):c.1417-17C>T rs113709957 0.00417
NM_024996.7(GFM1):c.1593C>T (p.Ala531=) rs114754676 0.00399
NM_138395.4(MARS2):c.1580T>C (p.Val527Ala) rs141544058 0.00387
NM_024537.4(CARS2):c.1489G>A (p.Val497Ile) rs146355429 0.00386
NM_006567.5(FARS2):c.468G>A (p.Thr156=) rs73718083 0.00382
NM_024537.4(CARS2):c.64G>A (p.Gly22Arg) rs534818713 0.00328
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met) rs147329295 0.00309
NM_024537.4(CARS2):c.1128C>T (p.Asp376=) rs142070578 0.00308
NM_145691.4(ATPAF2):c.*130T>C rs117739515 0.00300
NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly) rs34607655 0.00291
NM_018127.7(ELAC2):c.560-2A>G rs149733287 0.00275
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245 0.00268
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279 0.00256
NM_024537.4(CARS2):c.930C>T (p.His310=) rs143532600 0.00232
NM_018127.7(ELAC2):c.174G>A (p.Val58=) rs2286334 0.00196
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_024537.4(CARS2):c.1531G>A (p.Ala511Thr) rs147216443 0.00166
NM_024537.4(CARS2):c.1318-12G>A rs191969046 0.00161
NM_006567.5(FARS2):c.183C>T (p.Asp61=) rs73718082 0.00156
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val) rs119484087 0.00156
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782 0.00128
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_003321.5(TUFM):c.520-8A>T rs145900455 0.00116
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_004208.4(AIFM1):c.-165G>A rs759015293 0.00092
NM_152269.5(MTRFR):c.468A>G (p.Lys156=) rs147972301 0.00088
NM_024537.4(CARS2):c.586G>A (p.Asp196Asn) rs140082252 0.00087
NM_012123.4(MTO1):c.176G>C (p.Gly59Ala) rs201279883 0.00085
NM_152269.5(MTRFR):c.243C>T (p.Cys81=) rs140411575 0.00081
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_024537.4(CARS2):c.564G>A (p.Thr188=) rs76988055 0.00049
NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg) rs544551424 0.00047
NM_018127.7(ELAC2):c.1692C>T (p.Arg564=) rs117582762 0.00041
NM_001083614.2(EARS2):c.580G>A (p.Val194Met) rs76634881 0.00040
NM_018127.7(ELAC2):c.9G>C (p.Ala3=) rs764509473 0.00036
NM_006567.5(FARS2):c.462G>T (p.Ala154=) rs150477330 0.00035
NM_012123.4(MTO1):c.1637+16A>G rs201990339 0.00034
NM_024537.4(CARS2):c.1308G>A (p.Ala436=) rs141349632 0.00027
NM_004208.4(AIFM1):c.262A>G (p.Met88Val) rs750098055 0.00023
NM_006567.5(FARS2):c.873C>T (p.Cys291=) rs372301183 0.00013
NM_006567.5(FARS2):c.1014C>T (p.Arg338=) rs41302855 0.00012
NM_024537.4(CARS2):c.1059C>T (p.Ile353=) rs200079151 0.00009
NM_004208.4(AIFM1):c.968-14T>A rs201991839 0.00008
NM_006567.5(FARS2):c.288C>T (p.His96=) rs201410497 0.00006
NM_006567.5(FARS2):c.819T>A (p.Pro273=) rs201042275 0.00006
NM_006567.5(FARS2):c.768A>C (p.Gly256=) rs200003967 0.00004
NM_018127.7(ELAC2):c.1424-16A>G rs149112672 0.00004
NM_018127.7(ELAC2):c.2108+14G>A rs199942266 0.00004
NM_018127.7(ELAC2):c.1468T>G (p.Ser490Ala) rs149210630 0.00003
NM_018127.7(ELAC2):c.679+9A>G rs756430924 0.00003
NM_152269.5(MTRFR):c.309G>A (p.Gln103=) rs573747271 0.00003
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg) rs574200635 0.00002
NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg) rs536180346 0.00001
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_004564.3(GATB):c.1198-6del rs11292952
NM_006567.5(FARS2):c.462G>A (p.Ala154=) rs150477330
NM_006567.5(FARS2):c.829A>G (p.Met277Val)
NM_006567.5(FARS2):c.835A>G (p.Ile279Val)
NM_006567.5(FARS2):c.839A>C (p.Asn280Thr) rs11243011
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser) rs11243011
NM_006567.5(FARS2):c.846T>A (p.His282Gln) rs764139130
NM_012123.4(MTO1):c.1059A>G (p.Leu353=) rs201656868
NM_012123.4(MTO1):c.1785A>G (p.Gln595=) rs147990749
NM_012123.4(MTO1):c.1917+17_1917+19del rs760158320
NM_012123.4(MTO1):c.938+7= rs7766570
NM_015971.4(MRPS7):c.83+23C>G rs62085969
NM_015971.4(MRPS7):c.83+23_83+24del rs36039201
NM_018127.7(ELAC2):c.1305-6dup rs200410915
NM_018127.7(ELAC2):c.1305-8_1305-7insTCTC rs201830045
NM_018127.7(ELAC2):c.1305-8delinsCTCTC rs1064794813
NM_018127.7(ELAC2):c.1424-6del rs2040589080
NM_018127.7(ELAC2):c.1424-6dup
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=) rs11545302
NM_018127.7(ELAC2):c.1699-8dup rs878855049
NM_018127.7(ELAC2):c.1808+26G>C rs2286338
NM_018127.7(ELAC2):c.1809-5del
NM_018127.7(ELAC2):c.797+14del rs748817791
NM_018292.5(QRSL1):c.557+49_557+50del rs3040665
NM_020442.6(VARS2):c.574-42_574-35del rs57637932
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
NM_024537.4(CARS2):c.1417-57dup rs11414164
NM_024537.4(CARS2):c.394-13A>C rs575543110
NM_024537.4(CARS2):c.572-3_572-2del rs201758363
NM_024537.4(CARS2):c.920-8del rs2139748776
NM_024996.7(GFM1):c.1519-25A>G rs7628497
NM_033109.5(PNPT1):c.*11dup rs35916020

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