ClinVar Miner

List of variants reported as likely pathogenic for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 326
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HGVS dbSNP gnomAD frequency
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) rs146512155 0.00073
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864 0.00028
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) rs146503501 0.00028
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_024678.6(NARS2):c.1253G>A (p.Arg418His) rs535877562 0.00020
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_020191.4(MRPS22):c.509G>A (p.Arg170His) rs119478059 0.00012
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_020442.6(VARS2):c.2467-2A>G rs200075594 0.00011
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727 0.00011
NM_024996.7(GFM1):c.689+908G>A rs751069628 0.00011
NM_001136193.2(FASTKD2):c.882-1G>A rs767682048 0.00010
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020 0.00006
NM_006567.5(FARS2):c.467C>T (p.Thr156Met) rs146988468 0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter) rs143821815 0.00005
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter) rs771890880 0.00005
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr) rs587777688 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_024996.7(GFM1):c.997_998+2del rs763084523 0.00004
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter) rs1382181446 0.00004
NM_032620.4(GTPBP3):c.592-1G>C rs763165541 0.00004
NM_032620.4(GTPBP3):c.776A>G (p.Asn259Ser) rs777934121 0.00004
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln) rs150879145 0.00003
NM_006567.5(FARS2):c.589G>A (p.Val197Met) rs149605576 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys) rs1459252796 0.00002
NM_018127.7(ELAC2):c.2030-2A>G rs1033730754 0.00002
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) rs777028011 0.00002
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs) rs753352064 0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) rs119470018 0.00002
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys) rs760208518 0.00002
NM_001083614.2(EARS2):c.319C>T (p.Arg107Cys) rs1355685453 0.00001
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001136193.2(FASTKD2):c.1072C>T (p.Arg358Ter) rs994917847 0.00001
NM_001136193.2(FASTKD2):c.906G>A (p.Trp302Ter) rs751316870 0.00001
NM_001206427.2(ATP5MK):c.87+2dup rs1339841048 0.00001
NM_001379210.1(SLC25A26):c.33+1G>A rs781798317 0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_005726.6(TSFM):c.403C>T (p.Gln135Ter) rs751169823 0.00001
NM_005726.6(TSFM):c.557T>A (p.Leu186Ter) rs373811833 0.00001
NM_005726.6(TSFM):c.571+1G>C rs750371292 0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs) rs1491203033 0.00001
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn) rs780533096 0.00001
NM_005932.4(MIPEP):c.786+1G>C rs1408067328 0.00001
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612 0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611 0.00001
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.417+2T>C rs1030161382 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_018127.7(ELAC2):c.1305-2A>G rs779254943 0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter) rs763770476 0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter) rs550032922 0.00001
NM_018127.7(ELAC2):c.245+2T>A rs748684065 0.00001
NM_018127.7(ELAC2):c.432+1G>A rs769454280 0.00001
NM_020745.4(AARS2):c.2146-2A>G rs368934219 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_023936.2(MRPS34):c.562G>A (p.Glu188Lys) rs1313473522 0.00001
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr) rs727505361 0.00001
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) rs766234016 0.00001
NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter) rs775919783 0.00001
NM_024996.7(GFM1):c.1596del (p.Val533fs) rs761095873 0.00001
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp) rs762576741 0.00001
NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter) rs889180452 0.00001
NM_024996.7(GFM1):c.1910-1G>A rs1462851267 0.00001
NM_024996.7(GFM1):c.1910-2A>T rs867885977 0.00001
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter) rs1402362655 0.00001
NM_024996.7(GFM1):c.424del (p.Val142fs) rs886058120 0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser) rs774456344 0.00001
NM_024996.7(GFM1):c.689+1G>A rs1449057162 0.00001
NM_024996.7(GFM1):c.69G>A (p.Trp23Ter) rs763344414 0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter) rs863224032 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_024996.7(GFM1):c.81+1G>A rs1262218849 0.00001
NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys) rs749476185 0.00001
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu) rs767519084 0.00001
NM_025150.5(TARS2):c.326G>A (p.Arg109Gln) rs760526545 0.00001
NM_025150.5(TARS2):c.387+6T>C rs1064797119 0.00001
NM_025150.5(TARS2):c.695+3A>G rs587777594 0.00001
NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val) rs774708853 0.00001
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly) rs200088200 0.00001
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His) rs574670461 0.00001
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) rs397514613 0.00001
NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter) rs756173225 0.00001
NC_000006.11:g.(?_5404755)_(5404954_?)dup
NC_000006.11:g.(?_5545393)_(5545593_?)dup
NC_000006.11:g.(?_5613382)_(5613573_?)dup
NC_000006.11:g.(?_74183068)_(74183397_?)dup
NC_000006.11:g.(?_74191743)_(74192363_?)dup
NC_000006.11:g.5193615_5281296del
NC_000006.11:g.5262296_5395849del133554
NM_001083614.2(EARS2):c.451A>T (p.Lys151Ter)
NM_001083614.2(EARS2):c.947C>G (p.Ser316Ter)
NM_001136193.2(FASTKD2):c.1538del (p.Leu513fs) rs1690150292
NM_001136193.2(FASTKD2):c.496_497del (p.Leu166fs)
NM_001136193.2(FASTKD2):c.991-2A>G
NM_001172696.1(TSFM):c.[355G>C];[997C>T]
NM_001379210.1(SLC25A26):c.191-1G>T
NM_003321.5(TUFM):c.989G>C (p.Arg330Pro) rs924099073
NM_004046.6(ATP5F1A):c.1176+1G>C rs1131691396
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) rs2030801584
NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del) rs748846799
NM_005035.4(POLRMT):c.3459C>G (p.Tyr1153Ter) rs200224860
NM_005035.4(POLRMT):c.954-1G>C
NM_005726.6(TSFM):c.115dup (p.Arg39fs)
NM_005726.6(TSFM):c.139A>T (p.Lys47Ter)
NM_005726.6(TSFM):c.177_187del (p.Tyr59_Asn63delinsTer)
NM_005726.6(TSFM):c.192C>A (p.Cys64Ter) rs752852871
NM_005726.6(TSFM):c.223del (p.Leu75fs)
NM_005726.6(TSFM):c.231+1G>A
NM_005726.6(TSFM):c.250A>T (p.Lys84Ter)
NM_005726.6(TSFM):c.259C>T (p.Gln87Ter)
NM_005726.6(TSFM):c.27_28del (p.Phe10fs) rs2140412540
NM_005726.6(TSFM):c.382del (p.Val128fs)
NM_005726.6(TSFM):c.399del (p.Lys133fs) rs1955600413
NM_005726.6(TSFM):c.484-1G>A
NM_005726.6(TSFM):c.484G>A (p.Gly162Ser)
NM_005726.6(TSFM):c.545_548del (p.Leu182fs)
NM_005726.6(TSFM):c.551del (p.Asp184fs)
NM_005726.6(TSFM):c.57+1G>A rs1403882425
NM_005726.6(TSFM):c.5C>A (p.Ser2Ter)
NM_005726.6(TSFM):c.600dup (p.Arg201fs)
NM_005726.6(TSFM):c.611G>A (p.Trp204Ter)
NM_005726.6(TSFM):c.628_629insCATG (p.Gly210fs)
NM_005726.6(TSFM):c.719G>C (p.Cys240Ser)
NM_005726.6(TSFM):c.74del (p.Arg25fs)
NM_005726.6(TSFM):c.76C>T (p.Gln26Ter) rs774870834
NM_005726.6(TSFM):c.774G>C (p.Gln258His)
NM_005726.6(TSFM):c.796dup (p.Leu266fs)
NM_005726.6(TSFM):c.797delinsGG (p.Leu266fs)
NM_005726.6(TSFM):c.808_809del (p.Ser270fs)
NM_005726.6(TSFM):c.85C>T (p.Gln29Ter) rs2140413092
NM_005932.4(MIPEP):c.1259T>C (p.Leu420Pro) rs1869287041
NM_005932.4(MIPEP):c.1848+2T>G
NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter) rs866158774
NM_005932.4(MIPEP):c.890G>C (p.Gly297Ala)
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly) rs770597592
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser) rs1407198979
NM_006567.5(FARS2):c.1244G>A (p.Arg415His)
NM_006567.5(FARS2):c.1256G>T (p.Arg419Leu) rs202183509
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter) rs1561847309
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg) rs1554169280
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.403C>G (p.His135Asp) rs1554169353
NM_006567.5(FARS2):c.424G>A (p.Asp142Asn) rs145555213
NM_006567.5(FARS2):c.425A>G (p.Asp142Gly) rs2127643852
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly) rs1561990337
NM_006567.5(FARS2):c.530T>A (p.Val177Asp) rs1561990552
NM_006567.5(FARS2):c.613-2A>G
NM_006567.5(FARS2):c.821_824del (p.Ser274fs)
NM_006567.5(FARS2):c.905-1G>A rs1298860043
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.925G>C (p.Gly309Arg)
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
NM_007208.4(MRPL3):c.93-2A>C
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu) rs141970072
NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys) rs1033653237
NM_012123.4(MTO1):c.153_174del (p.Thr53fs) rs1770832882
NM_012123.4(MTO1):c.1756+2T>C
NM_012123.4(MTO1):c.344del (p.Asn115fs) rs1297994959
NM_012123.4(MTO1):c.535+1G>A
NM_012123.4(MTO1):c.89_90dup (p.Ala31fs)
NM_012123.4(MTO1):c.963A>C (p.Lys321Asn) rs1554148965
NM_014672.4(PRORP):c.1159A>G (p.Thr387Ala)
NM_014672.4(PRORP):c.1241C>T (p.Ala414Val)
NM_016034.5(MRPS2):c.300-2A>G
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu) rs772721937
NM_017646.6(TRIT1):c.1235-2A>G
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017819.4(TRMT10C):c.775_778del (p.Val259fs)
NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs) rs769890347
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017909.4(RMND1):c.388del (p.Val130fs) rs1582970514
NM_017909.4(RMND1):c.727del (p.Thr243fs) rs1582957532
NM_017909.4(RMND1):c.859A>T (p.Ile287Phe) rs763077801
NM_017952.6(PTCD3):c.1979+1G>A
NM_018127.7(ELAC2):c.1028T>G (p.Met343Arg) rs1555575927
NM_018127.7(ELAC2):c.1080-1G>C rs2143607002
NM_018127.7(ELAC2):c.1521-2A>G
NM_018127.7(ELAC2):c.1699-1G>A
NM_018127.7(ELAC2):c.1809-1G>A
NM_018127.7(ELAC2):c.1908+1G>A rs1014558424
NM_018127.7(ELAC2):c.2029+1G>A
NM_018127.7(ELAC2):c.2109-6_2111del
NM_018127.7(ELAC2):c.246-2A>G rs2143692659
NM_018127.7(ELAC2):c.797+1G>A
NM_018127.7(ELAC2):c.929A>C (p.Glu310Ala) rs1555576642
NM_018127.7(ELAC2):c.984-2A>G
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val) rs1562168768
NM_020191.4(MRPS22):c.481dup (p.Ile161fs)
NM_020191.4(MRPS22):c.992_993del (p.Phe331fs)
NM_020442.6(VARS2):c.1066C>T (p.Arg356Ter)
NM_020442.6(VARS2):c.1400G>C (p.Arg467Pro) rs775439829
NM_020442.6(VARS2):c.1463_1465del (p.Gly488del) rs1554268077
NM_020442.6(VARS2):c.1480-2A>G
NM_020442.6(VARS2):c.1583G>A (p.Trp528Ter)
NM_020442.6(VARS2):c.2692G>T (p.Glu898Ter) rs2150570235
NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs) rs1794789052
NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro) rs1170907347
NM_020745.4(AARS2):c.2599-1G>A rs1785349774
NM_020745.4(AARS2):c.459G>A (p.Trp153Ter) rs1786349461
NM_020745.4(AARS2):c.790G>A (p.Val264Met) rs2153356902
NM_020810.3(TRMT5):c.267_270delinsCTG (p.Ala89_Phe90insTer)
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_020810.3(TRMT5):c.665T>C (p.Ile222Thr) rs766935145
NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln) rs761343107
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg) rs143697995
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_023936.2(MRPS34):c.532C>T (p.Arg178Ter)
NM_024537.4(CARS2):c.1426G>T (p.Gly476Ter) rs1887501594
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser) rs1565216037
NM_024678.6(NARS2):c.822+6703_959+1726del
NM_024678.6(NARS2):c.822+6704_959+1727del
NM_024678.6(NARS2):c.947del (p.Asn316fs) rs755975670
NM_024678.6(NARS2):c.959+1505T>G
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter) rs565224393
NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs)
NM_024996.7(GFM1):c.113_116dup (p.Val40fs)
NM_024996.7(GFM1):c.114_115del (p.Val40fs)
NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)
NM_024996.7(GFM1):c.1157dup (p.Asn386fs)
NM_024996.7(GFM1):c.1172del (p.Lys391fs) rs1263604546
NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter) rs1332636394
NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro)
NM_024996.7(GFM1):c.1303dup (p.Ala435fs)
NM_024996.7(GFM1):c.136del (p.Ile46fs)
NM_024996.7(GFM1):c.1380+2T>G
NM_024996.7(GFM1):c.1381-1G>C
NM_024996.7(GFM1):c.1424del (p.Arg475fs) rs1723572750
NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs) rs768112611
NM_024996.7(GFM1):c.154_155del (p.Ala53fs)
NM_024996.7(GFM1):c.1601+1G>A rs748116978
NM_024996.7(GFM1):c.1632dup (p.Gly545fs)
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter) rs752037355
NM_024996.7(GFM1):c.1764+2T>C rs1725442904
NM_024996.7(GFM1):c.1765-2A>G rs2108102423
NM_024996.7(GFM1):c.1799del (p.Ser600fs)
NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs)
NM_024996.7(GFM1):c.1909+2T>A
NM_024996.7(GFM1):c.1951del (p.Ala651fs)
NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)
NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg)
NM_024996.7(GFM1):c.247_248del (p.Asp83fs) rs1721780124
NM_024996.7(GFM1):c.273del (p.Met92fs) rs863224033
NM_024996.7(GFM1):c.291_292del (p.Gly99fs) rs752400894
NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter)
NM_024996.7(GFM1):c.361dup (p.Thr121fs)
NM_024996.7(GFM1):c.362_367delinsTT (p.Thr121fs)
NM_024996.7(GFM1):c.367+1G>A
NM_024996.7(GFM1):c.368-2A>C
NM_024996.7(GFM1):c.368-2A>G
NM_024996.7(GFM1):c.381del (p.Phe127fs)
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala) rs1553847587
NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter) rs1721865059
NM_024996.7(GFM1):c.54del (p.Ala19fs) rs765266988
NM_024996.7(GFM1):c.573-1G>C rs2108009356
NM_024996.7(GFM1):c.573-2A>G
NM_024996.7(GFM1):c.579dup (p.Leu194fs)
NM_024996.7(GFM1):c.626del (p.Gly209fs)
NM_024996.7(GFM1):c.636del (p.Gly213fs)
NM_024996.7(GFM1):c.689+2T>C
NM_024996.7(GFM1):c.690_693del rs778902849
NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter)
NM_024996.7(GFM1):c.725T>G (p.Leu242Ter)
NM_024996.7(GFM1):c.748del (p.Arg250fs) rs2108016910
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_024996.7(GFM1):c.89_99del (p.Trp30fs) rs763423294
NM_024996.7(GFM1):c.909del (p.Asn303fs)
NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser) rs1722463582
NM_024996.7(GFM1):c.974del (p.Asn325fs)
NM_024996.7(GFM1):c.999-1G>A rs757524798
NM_024996.7(GFM1):c.999-1G>C
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
NM_025150.5(TARS2):c.1255C>T (p.Arg419Trp)
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly) rs2102494691
NM_025150.5(TARS2):c.1318G>A (p.Glu440Lys)
NM_025150.5(TARS2):c.1678G>C (p.Asp560His) rs2102510285
NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln) rs1322913410
NM_025150.5(TARS2):c.2140G>A (p.Ala714Thr) rs1064797120
NM_025150.5(TARS2):c.388-1G>C rs2102476204
NM_025150.5(TARS2):c.464C>T (p.Pro155Leu)
NM_025150.5(TARS2):c.774+5G>T
NM_025150.5(TARS2):c.845C>T (p.Pro282Leu) rs587777593
NM_025150.5(TARS2):c.980G>A (p.Arg327Gln)
NM_032380.5(GFM2):c.304+1G>A
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro) rs770871640
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn) rs558425417
NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp) rs1274363168
NM_032620.4(GTPBP3):c.521G>C (p.Arg174Pro) rs766510741
NM_032620.4(GTPBP3):c.967del (p.Arg323fs)
NM_033109.5(PNPT1):c.1284+4A>C
NM_033109.5(PNPT1):c.1400C>A (p.Pro467His)
NM_033109.5(PNPT1):c.1906+1G>A rs1695931094
NM_033109.5(PNPT1):c.2014-3C>G rs748445058
NM_033109.5(PNPT1):c.394C>T (p.Arg132Ter) rs780383722
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) rs746356243
NM_033109.5(PNPT1):c.526G>A (p.Ala176Thr) rs1365308037
NM_139242.4(MTFMT):c.1116del (p.Pro373fs) rs863224897
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu) rs397514614
NM_139242.4(MTFMT):c.459G>A (p.Trp153Ter) rs771725115
NM_145691.4(ATPAF2):c.98del (p.Ile33fs) rs2044747934
NM_152269.5(MTRFR):c.248del (p.Val83fs) rs587776508
NM_153689.6(C2orf69):c.187_191dup (p.Asp64fs)
Single allele

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