ClinVar Miner

List of variants reported as pathogenic for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 487
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HGVS dbSNP gnomAD frequency
NM_013337.4(TIMM22):c.97G>C (p.Val33Leu) rs149879547 0.00440
NM_005035.4(POLRMT):c.2608G>A (p.Asp870Asn) rs139383492 0.00323
NM_014672.4(PRORP):c.1301C>A (p.Ala434Asp) rs144536804 0.00281
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_005035.4(POLRMT):c.2428C>T (p.Pro810Ser) rs201364510 0.00119
NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu) rs140077535 0.00104
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_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
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_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 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_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser) rs148259590 0.00024
NM_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563 0.00022
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_005035.4(POLRMT):c.748C>G (p.His250Asp) rs137994680 0.00020
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_023936.2(MRPS34):c.322-10G>A rs563189672 0.00015
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
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_006567.5(FARS2):c.792del (p.Asp265fs) rs761097220 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_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768 0.00011
NM_001136193.2(FASTKD2):c.882-1G>A rs767682048 0.00010
NM_001206427.2(ATP5MK):c.87+1G>C rs146599698 0.00010
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu) rs199730889 0.00010
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_001284401.2(TAMM41):c.256T>C (p.Ser86Pro) rs199871047 0.00008
NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter) rs200583827 0.00007
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397 0.00007
NM_005035.4(POLRMT):c.2641-1G>C rs778201827 0.00006
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_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_021100.5(NFS1):c.215G>A (p.Arg72Gln) rs200592030 0.00006
NM_024678.6(NARS2):c.418C>T (p.Arg140Ter) rs1057524183 0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs) rs863223926 0.00006
NM_002949.4(MRPL12):c.542C>T (p.Ala181Val) rs577290119 0.00005
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter) rs148620369 0.00005
NM_006567.5(FARS2):c.989G>A (p.Arg330His) rs863223957 0.00005
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro) rs566435653 0.00005
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter) rs143821815 0.00005
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg) rs201751992 0.00005
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp) rs121909485 0.00004
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_013337.4(TIMM22):c.75C>A (p.Tyr25Ter) rs754537066 0.00004
NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln) rs777185638 0.00004
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) rs199622789 0.00004
NM_020442.6(VARS2):c.2038-1G>A rs769768815 0.00004
NM_024996.7(GFM1):c.720del (p.Glu241fs) rs745718158 0.00004
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter) rs1382181446 0.00004
NM_145691.4(ATPAF2):c.133+1G>T rs147941728 0.00004
NM_001212.4(C1QBP):c.557G>C (p.Cys186Ser) rs748497469 0.00003
NM_001212.4(C1QBP):c.612C>G (p.Phe204Leu) rs767427194 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn) rs201229537 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs) rs796052056 0.00003
NM_020810.3(TRMT5):c.872G>A (p.Arg291His) rs746738473 0.00003
NM_024678.6(NARS2):c.641C>T (p.Pro214Leu) rs730882155 0.00003
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln) rs541171482 0.00003
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) rs761283105 0.00003
NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter) rs778120270 0.00002
NM_005932.4(MIPEP):c.1970+2T>A rs773688171 0.00002
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) rs143912947 0.00002
NM_012123.4(MTO1):c.1462C>T (p.Arg488Ter) rs771939280 0.00002
NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln) rs397515421 0.00002
NM_018292.5(QRSL1):c.850-3A>G rs947204455 0.00002
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) rs777028011 0.00002
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549 0.00002
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter) rs119470019 0.00002
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter) rs1004779078 0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) rs119470018 0.00002
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter) rs780762234 0.00002
NM_025150.5(TARS2):c.2143G>A (p.Glu715Lys) rs756855066 0.00002
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys) rs760208518 0.00002
NM_001083614.2(EARS2):c.1235G>A (p.Arg412His) rs753827689 0.00001
NM_001083614.2(EARS2):c.193A>G (p.Lys65Glu) rs397514595 0.00001
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001083614.2(EARS2):c.417_418del (p.Cys140fs) rs767857970 0.00001
NM_001083614.2(EARS2):c.500G>A (p.Cys167Tyr) rs397514594 0.00001
NM_001083614.2(EARS2):c.610G>A (p.Gly204Ser) rs397514592 0.00001
NM_001136193.2(FASTKD2):c.613C>T (p.Arg205Ter) rs758094541 0.00001
NM_001379210.1(SLC25A26):c.305C>T (p.Ala102Val) rs869025314 0.00001
NM_001379210.1(SLC25A26):c.33+1G>A rs781798317 0.00001
NM_003321.5(TUFM):c.1016G>A (p.Arg339Gln) rs121434452 0.00001
NM_004046.6(ATP5F1A):c.985C>T (p.Arg329Cys) rs587776960 0.00001
NM_004564.3(GATB):c.408T>G (p.Phe136Leu) rs376766195 0.00001
NM_004564.3(GATB):c.580_581del (p.Ser194fs) rs565910322 0.00001
NM_005035.4(POLRMT):c.445C>T (p.Gln149Ter) rs750698432 0.00001
NM_005726.6(TSFM):c.601C>T (p.Arg201Ter) rs768320625 0.00001
NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter) rs770597592 0.00001
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612 0.00001
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041 0.00001
NM_006567.5(FARS2):c.1256G>A (p.Arg419His) rs202183509 0.00001
NM_006567.5(FARS2):c.261G>A (p.Trp87Ter) rs1229314240 0.00001
NM_006567.5(FARS2):c.646C>T (p.Gln216Ter) rs1057523346 0.00001
NM_006567.5(FARS2):c.812del (p.Thr271fs) rs1429774361 0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611 0.00001
NM_007208.4(MRPL3):c.950C>G (p.Pro317Arg) rs387906962 0.00001
NM_012123.4(MTO1):c.1405C>T (p.Arg469Ter) rs764848745 0.00001
NM_012123.4(MTO1):c.1498C>T (p.Arg500Ter) rs372842922 0.00001
NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys) rs761334309 0.00001
NM_017646.6(TRIT1):c.326T>C (p.Ile109Thr) rs146838322 0.00001
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu) rs1060505019 0.00001
NM_017646.6(TRIT1):c.967C>T (p.Arg323Trp) rs370866302 0.00001
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln) rs1047420796 0.00001
NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr) rs606231472 0.00001
NM_018127.7(ELAC2):c.1267C>T (p.Leu423Phe) rs397515466 0.00001
NM_018127.7(ELAC2):c.1275C>A (p.Tyr425Ter) rs1308121771 0.00001
NM_018127.7(ELAC2):c.1435C>T (p.Gln479Ter) rs138114191 0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter) rs550032922 0.00001
NM_018127.7(ELAC2):c.1888C>T (p.Arg630Ter) rs781680309 0.00001
NM_018127.7(ELAC2):c.245+2T>A rs748684065 0.00001
NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter) rs767879725 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NM_020442.6(VARS2):c.1060G>A (p.Asp354Asn) rs753490759 0.00001
NM_020442.6(VARS2):c.1400G>A (p.Arg467His) rs775439829 0.00001
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter) rs587777591 0.00001
NM_020745.4(AARS2):c.2255+1G>A rs1186074948 0.00001
NM_020745.4(AARS2):c.277C>T (p.Arg93Ter) rs760920084 0.00001
NM_020745.4(AARS2):c.464T>G (p.Leu155Arg) rs387907061 0.00001
NM_020745.4(AARS2):c.964C>T (p.Arg322Cys) rs767748655 0.00001
NM_020810.3(TRMT5):c.1156A>G (p.Met386Val) rs1057517685 0.00001
NM_022072.5(NSUN3):c.295C>T (p.Arg99Ter) rs762031082 0.00001
NM_023936.1(MRPS34):c.321+1G>T rs1161932777 0.00001
NM_024537.4(CARS2):c.649_651del (p.Glu217del) rs753472937 0.00001
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr) rs727505361 0.00001
NM_024537.4(CARS2):c.752C>T (p.Pro251Leu) rs557671802 0.00001
NM_024678.6(NARS2):c.500A>G (p.His167Arg) rs750594551 0.00001
NM_024678.6(NARS2):c.631T>A (p.Phe211Ile) rs755122704 0.00001
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) rs766234016 0.00001
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu) rs1390685552 0.00001
NM_024996.7(GFM1):c.409G>A (p.Val137Met) rs767325554 0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser) rs774456344 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.958C>G (p.Pro320Ala) rs781397040 0.00001
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu) rs767519084 0.00001
NM_025150.5(TARS2):c.470C>G (p.Thr157Arg) rs758088548 0.00001
NM_025150.5(TARS2):c.695+3A>G rs587777594 0.00001
NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro) rs879255657 0.00001
NM_138395.4(MARS2):c.424C>T (p.Arg142Trp) rs794726870 0.00001
NM_138395.4(MARS2):c.550C>T (p.Gln184Ter) rs794726869 0.00001
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) rs397514613 0.00001
NM_139242.4(MTFMT):c.452C>T (p.Pro151Leu) rs587777244 0.00001
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter) rs397514539 0.00001
NM_205767.3(MICOS13):c.260-2A>G rs1064797230 0.00001
NM_213649.2(SFXN4):c.414+1G>A rs1380193482 0.00001
NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter) rs1156283736 0.00001
GRCh37/hg19 12q24.31(chr12:123738221-123738503)
GRCh37/hg19 12q24.31(chr12:123738222-123738503)
GRCh37/hg19 6p25.1(chr6:5545413-5545573)
GRCh37/hg19 6q25.1(chr6:151757398-151757691)
NC_000006.11:g.(?_5109657)_(6320826_?)del
NC_000006.11:g.(?_5172693)_(5459957_?)del
NC_000006.11:g.(?_5216831)_(5431425_?)del
NC_000006.11:g.(?_5260861)_(5369435_?)del
NC_000006.11:g.(?_5339261)_(5404834_?)del
NC_000006.11:g.(?_5368784)_(5545593_?)del
NC_000006.11:g.(?_5368804)_(5369425_?)del
NC_000006.11:g.(?_5368804)_(5369435_?)del
NC_000006.11:g.(?_5368804)_(5404954_?)del
NC_000006.11:g.(?_5404755)_(5431425_?)del
NC_000006.11:g.(?_5404755)_(5545593_?)del
NC_000006.11:g.(?_5431254)_(5653711_?)del
NC_000006.11:g.(?_5545403)_(5545583_?)del
NC_000006.11:g.(?_74171578)_(74171814_?)del
NC_000006.11:g.(?_74171578)_(74192363_?)del
NC_000006.11:g.(?_74175912)_(74183397_?)del
NC_000006.11:g.(?_74183068)_(74183397_?)del
NC_000006.11:g.(?_74189435)_(74192363_?)del
NC_000006.12:g.(?_5368551)_(5369202_?)del
NC_000006.12:g.(?_5368551)_(5431192_?)del
NC_000006.12:g.(?_5404522)_(5404721_?)del
NC_000006.12:g.(?_5545160)_(5545360_?)del
NC_000008.11:g.(79919149_80002998)_(80003181_80030035)del
NC_000011.10:g.(78476711_78486359)del
NC_000011.9:g.(78180360_78189483)_(78189730_78204108)del
NC_000012.11:g.(?_123741340)_(123741578_?)del
NC_000017.10:g.(?_12896135)_(12921264_?)del
NC_000017.10:g.(?_12920159)_(12920458_?)del
NC_012920.1:m.8993T>C rs199476133
NC_012920.1:m.8993T>G rs199476133
NC_012920.1:m.9176T>C rs199476135
NC_012920.1:m.9176T>G rs199476135
NC_012920.1:m.9185T>C rs199476138
NM_001083614.2(EARS2):c.1283del (p.Pro428fs) rs1965287605
NM_001083614.2(EARS2):c.1465C>T (p.Arg489Trp)
NM_001083614.2(EARS2):c.212del (p.Phe71fs) rs778413603
NM_001083614.2(EARS2):c.286G>A (p.Glu96Lys) rs397514593
NM_001083614.2(EARS2):c.376C>T (p.Gln126Ter)
NM_001083614.2(EARS2):c.684C>A (p.Tyr228Ter) rs1445826036
NM_001083614.2(EARS2):c.[1279_1280insTCC;502A>G]
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter) rs118203917
NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs) rs1574675683
NM_001136193.2(FASTKD2):c.764T>C (p.Leu255Pro) rs1689552727
NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs) rs1574663066
NM_001136193.2(FASTKD2):c.849C>A (p.Cys283Ter) rs1559359546
NM_001212.4(C1QBP):c.562_564del (p.Tyr188del) rs755568057
NM_001212.4(C1QBP):c.739G>T (p.Gly247Trp) rs1394499137
NM_001212.4(C1QBP):c.823C>T (p.Leu275Phe) rs1555532484
NM_001212.4(C1QBP):c.824T>C (p.Leu275Pro) rs1555532483
NM_001284401.2(TAMM41):c.329A>G (p.Tyr110Cys) rs2125058823
NM_001284401.2(TAMM41):c.410C>T (p.Pro137Leu)
NM_001284401.2(TAMM41):c.411+1G>T rs780204589
NM_001284401.2(TAMM41):c.709-2A>G
NM_001284401.2(TAMM41):c.806dup (p.Asn269fs) rs768826552
NM_001379210.1(SLC25A26):c.443T>G (p.Val148Gly) rs869025313
NM_001379210.1(SLC25A26):c.596C>T (p.Pro199Leu) rs869025315
NM_001697.3(ATP5PO):c.329-20A>G
NM_001697.3(ATP5PO):c.34C>T (p.Gln12Ter)
NM_001697.3(ATP5PO):c.87+3A>G rs1987287870
NM_003321.5(TUFM):c.162del (p.Thr53_Tyr54insTer) rs1057518743
NM_003321.5(TUFM):c.440T>A (p.Leu147His) rs1057518742
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe) rs2144178477
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln) rs2144189607
NM_004046.6(ATP5F1A):c.620G>A (p.Arg207His) rs1555695342
NM_004046.6(ATP5F1A):c.962A>G (p.Tyr321Cys) rs587777788
NM_004208.4(AIFM1):c.1013G>A (p.Gly338Glu) rs1603223152
NM_004208.4(AIFM1):c.1164+5G>A
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1436A>G (p.Gln479Arg) rs1057516211
NM_004208.4(AIFM1):c.603_605del (p.Arg201del) rs387906500
NM_004208.4(AIFM1):c.727G>T (p.Val243Leu) rs1603225138
NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu) rs1603224226
NM_005035.4(POLRMT):c.1832C>T (p.Ser611Phe) rs2144625053
NM_005035.4(POLRMT):c.1923C>G (p.Phe641Leu) rs748687181
NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del) rs748846799
NM_005035.4(POLRMT):c.2775C>A (p.Cys925Ter) rs55752843
NM_005035.4(POLRMT):c.3037C>T (p.Arg1013Cys) rs745348188
NM_005035.4(POLRMT):c.[1696C>T;3578C>T]
NM_005726.6(TSFM):c.57+4A>G rs587777689
NM_005726.6(TSFM):c.748G>T (p.Glu250Ter) rs1955738689
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) rs1057518741
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter) rs114638163
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_005932.4(MIPEP):c.787-51_993-181del
NM_006567.5(FARS2):c.1109_1111delinsAACCAGAATGAA (p.Trp370_Leu371delinsTer) rs1554116357
NM_006567.5(FARS2):c.1110G>A (p.Trp370Ter)
NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe) rs1204079767
NM_006567.5(FARS2):c.11C>G (p.Ser4Ter)
NM_006567.5(FARS2):c.1218-73_1289delinsC
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter) rs1561847309
NM_006567.5(FARS2):c.178C>T (p.Gln60Ter)
NM_006567.5(FARS2):c.251A>C (p.His84Pro) rs1758844499
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter) rs1428625375
NM_006567.5(FARS2):c.3G>T (p.Met1Ile) rs2127642660
NM_006567.5(FARS2):c.425del (p.Asp142fs) rs2127643855
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.497dup (p.Leu168fs)
NM_006567.5(FARS2):c.593G>T (p.Arg198Leu)
NM_006567.5(FARS2):c.694del (p.Thr232fs) rs2127718679
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter) rs761709212
NM_006567.5(FARS2):c.877del (p.Gly292_Val293insTer) rs2127767975
NM_006567.5(FARS2):c.886C>T (p.Gln296Ter) rs1414534588
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.929G>A (p.Trp310Ter)
NM_006567.5(FARS2):c.946_950del (p.Leu316fs) rs1322974029
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
NM_006567.5(FARS2):c.999G>A (p.Trp333Ter) rs753467517
NM_006567.5:c.(?_-4)_(612+185_613-1)del
NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys) rs387906929
NM_007208.4(MRPL3):c.49del (p.Arg17fs) rs1582724664
NM_012123.4(MTO1):c.1136del (p.Gly379fs)
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
NM_012123.4(MTO1):c.1232C>T (p.Thr411Ile) rs398122419
NM_012123.4(MTO1):c.1246del (p.Glu416fs) rs1250411982
NM_012123.4(MTO1):c.1274del (p.Gly425fs)
NM_012123.4(MTO1):c.137dup (p.His46fs)
NM_012123.4(MTO1):c.1421dup (p.Leu474fs)
NM_012123.4(MTO1):c.1451G>A (p.Arg484Gln)
NM_012123.4(MTO1):c.1495C>T (p.Gln499Ter)
NM_012123.4(MTO1):c.1533_1536del (p.Glu512fs)
NM_012123.4(MTO1):c.1643dup (p.Asp549fs)
NM_012123.4(MTO1):c.1692del (p.Val565fs) rs2150042284
NM_012123.4(MTO1):c.1750dup (p.Ile584fs) rs2150042308
NM_012123.4(MTO1):c.1789C>T (p.Gln597Ter) rs2150044955
NM_012123.4(MTO1):c.1822del (p.Leu608fs) rs1561954433
NM_012123.4(MTO1):c.1848T>G (p.Tyr616Ter) rs2150044996
NM_012123.4(MTO1):c.1858dup (p.Arg620fs) rs397518449
NM_012123.4(MTO1):c.239_242del (p.Ser80fs)
NM_012123.4(MTO1):c.277del (p.Glu92_Val93insTer)
NM_012123.4(MTO1):c.402_403del (p.Tyr134_Lys135delinsTer) rs769532203
NM_012123.4(MTO1):c.413del (p.Met138fs)
NM_012123.4(MTO1):c.429_444del (p.Asn144fs) rs2150027394
NM_012123.4(MTO1):c.525_526del (p.Val176fs)
NM_012123.4(MTO1):c.648del (p.Gln216fs)
NM_012123.4(MTO1):c.667C>T (p.Gln223Ter) rs2150031480
NM_012123.4(MTO1):c.724del (p.Arg242fs)
NM_012123.4(MTO1):c.734_735del (p.Lys245fs) rs755954353
NM_012123.4(MTO1):c.937C>T (p.Arg313Ter)
NM_012123.4(MTO1):c.961A>T (p.Lys321Ter) rs148667065
NM_012123.4(MTO1):c.967_968del (p.Leu323fs) rs2150035785
NM_012123.4(MTO1):c.970del (p.Arg324fs)
NM_012123.4(MTO1):c.97del (p.Arg33fs) rs1582666067
NM_012473.4(TXN2):c.71G>A (p.Trp24Ter) rs754022333
NM_014018.3(MRPS28):c.356A>G (p.Lys119Arg) rs1808705345
NM_014672.4(PRORP):c.1159A>G (p.Thr387Ala)
NM_014672.4(PRORP):c.1197dup (p.Ser400fs) rs764714439
NM_014672.4(PRORP):c.1241C>T (p.Ala414Val)
NM_014672.4(PRORP):c.1454C>T (p.Ala485Val) rs1169927428
NM_016065.4(MRPS16):c.331C>T (p.Arg111Ter) rs104894168
NM_016070.4(MRPS23):c.119C>G (p.Pro40Arg) rs772721937
NM_017446.4(MRPL39):c.526del (p.Ser176fs)
NM_017446.4(MRPL39):c.589-924G>A rs1209423257
NM_017446.4(MRPL39):c.896G>T (p.Gly299Val) rs1227035820
NM_017446.4(MRPL39):c.921+5G>A
NM_017646.6(TRIT1):c.1171_1172del (p.Lys391fs)
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017646.6(TRIT1):c.334del (p.Arg112fs) rs536000212
NM_017646.6(TRIT1):c.568C>T (p.Gln190Ter) rs2124597984
NM_017646.6(TRIT1):c.882del (p.Glu295fs)
NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala) rs875989831
NM_017909.2(RMND1):c.1003delG rs1057519299
NM_017909.3(RMND1):c.[613G>T];[713A>G]
NM_017909.4(RMND1):c.108del (p.Phe36fs)
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017909.4(RMND1):c.485del (p.Pro162fs) rs759477396
NM_017909.4(RMND1):c.504+1G>A rs1562800908
NM_017909.4(RMND1):c.856del (p.Glu286fs) rs1780213490
NM_017952.6(PTCD3):c.1453-1G>C
NM_017952.6(PTCD3):c.1746_1747dup (p.Phe583fs) rs1573859565
NM_017952.6(PTCD3):c.1918C>G (p.Pro640Ala)
NM_017952.6(PTCD3):c.415-2A>G rs1301547272
NM_017952.6(PTCD3):c.710del (p.Thr237fs) rs1674335308
NM_017952.6(PTCD3):c.902C>T (p.Thr301Ile)
NM_018127.7(ELAC2):c.1062C>G (p.Tyr354Ter)
NM_018127.7(ELAC2):c.1066C>T (p.Gln356Ter)
NM_018127.7(ELAC2):c.1214del (p.Cys405fs)
NM_018127.7(ELAC2):c.1245del (p.Met416fs)
NM_018127.7(ELAC2):c.1535dup (p.Leu513fs)
NM_018127.7(ELAC2):c.1559C>T (p.Thr520Ile) rs397515463
NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter) rs2040486497
NM_018127.7(ELAC2):c.1706del (p.Leu569fs) rs2143562536
NM_018127.7(ELAC2):c.1727dup (p.Leu576fs)
NM_018127.7(ELAC2):c.1864G>T (p.Glu622Ter)
NM_018127.7(ELAC2):c.2144del (p.Met715fs)
NM_018127.7(ELAC2):c.2179C>T (p.Gln727Ter) rs946948334
NM_018127.7(ELAC2):c.273del (p.Gln92fs) rs748788377
NM_018127.7(ELAC2):c.286C>T (p.Gln96Ter)
NM_018127.7(ELAC2):c.297-2_297-1delinsT rs1060502161
NM_018127.7(ELAC2):c.299dup (p.Leu100fs)
NM_018127.7(ELAC2):c.383T>A (p.Leu128Ter)
NM_018127.7(ELAC2):c.457del (p.Ile153fs) rs1567773277
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_018127.7(ELAC2):c.520G>T (p.Glu174Ter) rs374954001
NM_018127.7(ELAC2):c.52C>T (p.Gln18Ter)
NM_018127.7(ELAC2):c.751A>T (p.Arg251Ter) rs397515464
NM_018127.7(ELAC2):c.766del (p.Val256fs) rs2041085400
NM_018127.7(ELAC2):c.863_866del (p.Gly288fs)
NM_018127.7(ELAC2):c.865_866AG[2] (p.Glu290fs)
NM_018127.7(ELAC2):c.[1218+3A>C;2009del]
NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu) rs1562173313
NM_018292.5(QRSL1):c.350G>A (p.Gly117Glu) rs1777047446
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val) rs1562168768
NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter) rs763443331
NM_019095.6(CRLS1):c.326T>A (p.Ile109Asn)
NM_019095.6(CRLS1):c.515C>A (p.Ala172Asp)
NM_019095.6(CRLS1):c.649C>T (p.Leu217Phe)
NM_020191.4(MRPS22):c.644T>C (p.Leu215Pro) rs387906924
NM_020191.4(MRPS22):c.648+1G>T
NM_020191.4(MRPS22):c.758T>C (p.Ile253Thr) rs761121831
NM_020191.4(MRPS22):c.874_875del (p.Asp292fs) rs775852045
NM_020408.6(LYRM4):c.203G>T (p.Arg68Leu) rs587777218
NM_020442.6(VARS2):c.1045G>A (p.Ala349Thr) rs587777583
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
NM_020442.6(VARS2):c.1787C>A (p.Ala596Asp) rs587777584
NM_020442.6(VARS2):c.2149G>A (p.Ala717Thr) rs772718755
NM_020442.6(VARS2):c.2758T>C (p.Tyr920His) rs1794768738
NM_020442.6(VARS2):c.420del (p.Met141fs)
NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe) rs2153355304
NM_020745.4(AARS2):c.2027A>C (p.Gln676Pro) rs1561938413
NM_020745.4(AARS2):c.2356G>A (p.Ala786Thr) rs1554147776
NM_020745.4(AARS2):c.2487+1G>C rs2153353848
NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter) rs1785274253
NM_020745.4(AARS2):c.647dup (p.Cys218fs) rs587777589
NM_020745.4(AARS2):c.845C>G (p.Ser282Cys) rs2153356880
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_020810.3(TRMT5):c.665T>C (p.Ile222Thr) rs766935145
NM_022072.5(NSUN3):c.123-615_466+2155del
NM_022072.5(NSUN3):c.421G>C (p.Ala141Pro) rs2077283982
NM_022072.5(NSUN3):c.454T>A (p.Cys152Ser) rs2077284206
NM_022100.3(MRPS14):c.322C>T (p.Arg108Cys) rs990763738
NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln) rs761343107
NM_022915.5(MRPL44):c.467T>C (p.Leu156Pro) rs143697995
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg) rs143697995
NM_022915.5(MRPL44):c.481_484delinsTC (p.Thr161fs) rs2106116608
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter) rs1574796091
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_024537.4(CARS2):c.1360dup (p.Ile454fs) rs1555342802
NM_024537.4(CARS2):c.155T>G (p.Val52Gly) rs1566366322
NM_024678.6(NARS2):c.10del (p.Val4fs) rs1555047651
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser) rs1565216037
NM_024678.6(NARS2):c.1184T>G (p.Leu395Arg) rs763770414
NM_024678.6(NARS2):c.545T>A (p.Ile182Lys) rs748779965
NM_024678.6(NARS2):c.594+1G>A rs1035101172
NM_024678.6(NARS2):c.595-1G>A
NM_024678.6(NARS2):c.707T>G (p.Phe236Cys) rs1565235204
NM_024678.6(NARS2):c.822G>C (p.Gln274His) rs730882154
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter) rs565224393
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del) rs1576745248
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs) rs866604517
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter) rs757691557
NM_024996.7(GFM1):c.1404del (p.Gly469fs) rs779877297
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg) rs119470020
NM_024996.7(GFM1):c.1510del (p.Tyr504fs) rs1560135485
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg) rs1576757241
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val) rs143031224
NM_024996.7(GFM1):c.1765-2_1765-1del rs1245712932
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter) rs62286651
NM_024996.7(GFM1):c.248A>T (p.Asp83Val) rs1576721522
NM_024996.7(GFM1):c.3G>A (p.Met1Ile) rs863224030
NM_024996.7(GFM1):c.539del (p.Gly180fs) rs1362847020
NM_024996.7(GFM1):c.817dup (p.Ile273fs)
NM_024996.7(GFM1):c.914del (p.Gly305fs)
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly) rs2102494691
NM_025150.5(TARS2):c.845C>T (p.Pro282Leu) rs587777593
NM_032380.5(GFM2):c.2029-1G>A rs869320704
NM_032380.5(GFM2):c.206+4A>G rs869320703
NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser) rs1554042187
NM_032380.5(GFM2):c.636del (p.Glu213fs) rs746538436
NM_032620.4(GTPBP3):c.1009G>C (p.Asp337His) rs886037735
NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs) rs869320746
NM_032620.4(GTPBP3):c.1375G>A (p.Glu459Lys) rs886037734
NM_032620.4(GTPBP3):c.187C>T (p.Arg63Ter)
NM_032620.4(GTPBP3):c.32_33delinsGTG (p.Gln11fs) rs886037736
NM_032620.4(GTPBP3):c.476A>T (p.Glu159Val) rs730880255
NM_032620.4(GTPBP3):c.643G>T (p.Glu215Ter) rs1555726849
NM_032620.4(GTPBP3):c.664+23_664+26del rs765975578
NM_033109.5(PNPT1):c.1160A>G (p.Gln387Arg) rs397514598
NM_033109.5(PNPT1):c.1399C>T (p.Pro467Ser) rs1696380450
NM_033109.5(PNPT1):c.1453A>G (p.Met485Val) rs767310806
NM_033109.5(PNPT1):c.1495G>C (p.Gly499Arg) rs1559094461
NM_033109.5(PNPT1):c.1579_1580insGAT (p.Tyr527Ter) rs2104038061
NM_033109.5(PNPT1):c.1818T>G (p.Val606=) rs1049082567
NM_033109.5(PNPT1):c.208T>C (p.Ser70Pro) rs1559114055
NM_033109.5(PNPT1):c.2137G>T (p.Asp713Tyr) rs752550279
NM_033109.5(PNPT1):c.404-1G>A rs863225449
NM_033109.5(PNPT1):c.406C>T (p.Arg136Cys)
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) rs746356243
NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys) rs778100619
NM_138395.4(MARS2):c.1032_1033del (p.Cys344fs) rs757731660
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs) rs587777417
NM_139242.4(MTFMT):c.219_222del (p.Glu74fs) rs777725264
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu) rs397514614
NM_139242.4(MTFMT):c.73C>T (p.Gln25Ter) rs587777419
NM_139242.4(MTFMT):c.878G>A (p.Ser293Asn) rs587777418
NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter) rs1555404423
NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg) rs104894554
NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)
NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)
NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)
NM_152269.5(MTRFR):c.248del (p.Val83fs) rs587776508
NM_152269.5(MTRFR):c.307del (p.Gln103fs) rs2048187051
NM_152269.5(MTRFR):c.33dup (p.Pro12fs) rs2048143498
NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter) rs2138800520
NM_153689.6(C2orf69):c.280del (p.Glu94fs) rs2106636277
NM_153689.6(C2orf69):c.298del (p.Gln100fs) rs2077262520
NM_153689.6(C2orf69):c.311_313del (p.Leu104_Tyr105delinsHis) rs2106636278
NM_153689.6(C2orf69):c.588_592del (p.Asn196fs)
NM_153689.6(C2orf69):c.843_847del (p.Lys282fs) rs2106636543
NM_153689.6(C2orf69):c.909_925del (p.Ser304fs) rs2106636544
NM_153689.6(C2orf69):c.929G>A (p.Trp310Ter) rs2106636545
NM_176818.3(GATC):c.233T>G (p.Met78Arg) rs1370579526
NM_205767.3(MICOS13):c.30-1G>A rs1568293849
NM_205767.3(MICOS13):c.44del (p.Gly15fs) rs1568293814
NM_213649.2(SFXN4):c.233del (p.Pro78fs) rs398124642
NM_213649.2(SFXN4):c.368T>A (p.Leu123Ter) rs2133612740
NM_213649.2(SFXN4):c.471+1G>A rs367932369
NM_213649.2(SFXN4):c.739dup (p.Arg247fs) rs1554886159
NM_213649.2(SFXN4):c.930del (p.Ile310fs) rs1589625048

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