ClinVar Miner

List of variants reported as pathogenic for mitochondrial complex deficiency

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 395
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HGVS dbSNP gnomAD frequency
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) rs119455950 0.00218
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456 0.00063
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) rs764928653 0.00036
NM_004551.3(NDUFS3):c.381+6T>C rs377579231 0.00035
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_018838.5(NDUFA12):c.178C>T (p.Arg60Ter) rs387907139 0.00025
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_005005.3(NDUFB9):c.431C>T (p.Thr144Met) rs769883777 0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_001040431.3(COA3):c.215A>G (p.Tyr72Cys) rs139877390 0.00012
NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala) rs370411488 0.00012
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_016589.4(TIMMDC1):c.597-1340A>G rs781525096 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768 0.00011
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_005006.7(NDUFS1):c.1393-2A>C rs370009373 0.00007
NM_018480.7(TMEM126B):c.397G>A (p.Asp133Asn) rs573006534 0.00007
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) rs104894557 0.00006
NM_016589.4(TIMMDC1):c.410G>A (p.Arg137His) rs142096113 0.00006
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951 0.00006
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937 0.00005
NM_016589.4(TIMMDC1):c.385C>T (p.Arg129Ter) rs970547270 0.00005
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028 0.00004
NM_002496.4(NDUFS8):c.305G>A (p.Arg102His) rs121912638 0.00004
NM_003172.4(SURF1):c.240+1G>T rs781948238 0.00004
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys) rs387906958 0.00004
NM_016468.7(COX16):c.244C>T (p.Arg82Ter) rs781059799 0.00004
NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met) rs199542988 0.00004
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) rs267606829 0.00004
NM_017775.4(TTC19):c.583C>T (p.Gln195Ter) rs764720544 0.00004
NM_017775.4(TTC19):c.656T>G (p.Leu219Ter) rs747166010 0.00004
NM_145691.4(ATPAF2):c.133+1G>T rs147941728 0.00004
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736 0.00004
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863 0.00004
NM_198076.6(COX20):c.41A>G (p.Lys14Arg) rs1057521790 0.00004
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) rs104894270 0.00003
NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs) rs796052056 0.00003
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440 0.00003
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170 0.00003
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807 0.00003
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_001863.5(COX6B1):c.59G>A (p.Arg20His) rs121909602 0.00002
NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) rs1023075742 0.00002
NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp) rs146766138 0.00002
NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg) rs1275864234 0.00002
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) rs768050261 0.00002
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00002
NM_016360.4(TACO1):c.421C>T (p.Arg141Ter) rs765093638 0.00002
NM_017866.6(TMEM70):c.304C>T (p.Arg102Ter) rs774638624 0.00002
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) rs118203929 0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_152416.4(NDUFAF6):c.420+784C>T rs749738738 0.00002
NM_181705.4(LYRM7):c.2T>C (p.Met1Thr) rs531275086 0.00002
NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) rs121908574 0.00001
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 0.00001
NM_001079866.2(BCS1L):c.607dup (p.Arg203fs) rs1057516255 0.00001
NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val) rs1318084629 0.00001
NM_001136193.2(FASTKD2):c.1690C>T (p.Gln564Ter) rs755068980 0.00001
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) rs587779779 0.00001
NM_001171155.2(PET100):c.1A>G (p.Met1Val) rs977392512 0.00001
NM_001171155.2(PET100):c.3G>C (p.Met1Ile) rs587777839 0.00001
NM_001303.4(COX10):c.674C>T (p.Pro225Leu) rs104894556 0.00001
NM_001370595.2(COA8):c.314T>C (p.Phe105Ser) rs587777786 0.00001
NM_001377299.1(NDUFS2):c.1237T>C (p.Ser413Pro) rs121434429 0.00001
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys) rs774162709 0.00001
NM_001687.5(ATP5F1D):c.245C>T (p.Pro82Leu) rs867410737 0.00001
NM_002488.5(NDUFA2):c.208+5G>A rs1168752295 0.00001
NM_002495.4(NDUFS4):c.99-1G>A rs376281345 0.00001
NM_002496.4(NDUFS8):c.187G>C (p.Glu63Gln) rs397514618 0.00001
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) rs28939679 0.00001
NM_002496.4(NDUFS8):c.413G>A (p.Arg138His) rs111033588 0.00001
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) rs782021521 0.00001
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) rs121918657 0.00001
NM_004046.6(ATP5F1A):c.985C>T (p.Arg329Cys) rs587776960 0.00001
NM_004544.4(NDUFA10):c.1A>G (p.Met1Val) rs387906872 0.00001
NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln) rs372417584 0.00001
NM_004553.6(NDUFS6):c.309+5G>A rs763535523 0.00001
NM_004589.4(SCO1):c.394G>A (p.Gly132Ser) rs587777220 0.00001
NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys) rs3210083 0.00001
NM_005005.3(NDUFB9):c.191T>C (p.Leu64Pro) rs776388520 0.00001
NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys) rs149271416 0.00001
NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter) rs372691318 0.00001
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter) rs750971390 0.00001
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp) rs199422225 0.00001
NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly) rs199422224 0.00001
NM_006294.5(UQCRB):c.306_309del (p.Arg105fs) rs886043294 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys) rs121913661 0.00001
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp) rs377022708 0.00001
NM_014222.3(NDUFA8):c.139C>T (p.Arg47Cys) rs767864225 0.00001
NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro) rs2061098856 0.00001
NM_015965.7(NDUFA13):c.170G>A (p.Arg57His) rs752513525 0.00001
NM_016013.4(NDUFAF1):c.758A>G (p.Lys253Arg) rs387906957 0.00001
NM_017547.4(FOXRED1):c.1054C>T (p.Arg352Trp) rs387907087 0.00001
NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) rs373075574 0.00001
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg) rs749110767 0.00001
NM_017775.4(TTC19):c.1A>G (p.Met1Val) rs749196122 0.00001
NM_017866.6(TMEM70):c.105dup (p.Val36fs) rs1411381518 0.00001
NM_017866.6(TMEM70):c.238C>T (p.Arg80Ter) rs387907070 0.00001
NM_018480.7(TMEM126B):c.137del (p.Ala46fs) rs764565613 0.00001
NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs) rs772188600 0.00001
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr) rs531254130 0.00001
NM_024120.5(NDUFAF5):c.223-907A>C rs1186667603 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001
NM_024407.5(NDUFS7):c.434G>A (p.Arg145His) rs121434479 0.00001
NM_025152.3(NUBPL):c.351G>A (p.Met117Ile) rs1273822033 0.00001
NM_025152.3(NUBPL):c.693+1G>A rs751631278 0.00001
NM_025152.3(NUBPL):c.726C>G (p.Phe242Leu) rs767543623 0.00001
NM_152416.4(NDUFAF6):c.226T>C (p.Ser76Pro) rs1057519084 0.00001
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter) rs753873681 0.00001
NM_174889.5(NDUFAF2):c.184del (p.Tyr62fs) rs1561557254 0.00001
NM_174889.5(NDUFAF2):c.1A>T (p.Met1Leu) rs1554076306 0.00001
NM_198076.6(COX20):c.157+7A>G rs1227651240 0.00001
NM_198076.6(COX20):c.222G>T (p.Trp74Cys) rs766397584 0.00001
NM_199069.2(NDUFAF3):c.2T>C (p.Met1Thr) rs121918136 0.00001
GRCh38/hg38 17p12(chr17:16018139-16028011)x0
NC_000008.10:g.(?_74890971)_(74903809_?)del
NC_000008.11:g.(?_73976262)_(73981641_?)del
NC_000014.8:g.(32142781_32256985)_(32257080_32295834)del
NC_000014.9:g.102573453_103575949del
NC_012920.1(MT-CO1):m.6480G>A rs199476128
NC_012920.1(MT-CO1):m.6930G>A rs28679680
NC_012920.1(MT-CO2):m.7587T>C rs199474825
NC_012920.1(MT-CO2):m.7671T>A rs199474827
NC_012920.1(MT-CO2):m.7896G>A rs199474829
NC_012920.1(MT-CO2):m.8043_8044del rs199474828
NC_012920.1(MT-CO2):m.8088del rs1556423388
NC_012920.1(MT-CO3):m.9379G>A rs267606615
NC_012920.1(MT-CO3):m.9487_9501del rs267606612
NC_012920.1(MT-CO3):m.9537dup rs267606614
NC_012920.1(MT-CO3):m.9952G>A rs267606613
NC_012920.1(MT-ND2):m.4810G>A rs267606888
NC_012920.1(MT-ND2):m.5133_5134del rs199476116
NC_012920.1(MT-ND3):m.10158T>C rs199476117
NC_012920.1(MT-ND3):m.10191T>C rs267606890
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NC_012920.1(MT-ND4):m.11777C>A rs28384199
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TN):m.5703G>A rs199476130
NC_012920.1(MT-TN):m.5728T>C rs199476132
NC_012920.1(MT-TS1):m.7453G>A rs2068703521
NC_012920.1(MT-TS1):m.7471dup rs111033319
NC_012920.1(MT-TS1):m.7497G>A rs387906419
NC_012920.1(MT-TS1):m.7505T>C rs724159989
NC_012920.1(MT-TS1):m.7511T>C rs199474821
NC_012920.1(MT-TS1):m.7512T>C rs199474817
NM_001040431.3(COA3):c.199dup (p.Leu67fs) rs757472611
NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys) rs121908575
NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala) rs121908580
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.25G>A (p.Ala9Thr)
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg) rs1057521059
NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro) rs121908573
NM_001079866.2(BCS1L):c.655+1G>C rs1057516802
NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly) rs1459378570
NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn) rs121908571
NM_001085372.3(UQCC3):c.59T>A (p.Val20Glu) rs606231426
NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu) rs1598368033
NM_001086521.2(NDUFAF8):c.1A>C (p.Met1Leu) rs1318084629
NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs) rs1598367619
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_001135998.3(NDUFB11):c.361G>A (p.Glu121Lys) rs1057519073
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter) rs118203917
NM_001164811.2(PET117):c.172C>T (p.Gln58Ter) rs2037617604
NM_001303.4(COX10):c.1007A>G (p.Asp336Gly) rs104894557
NM_001303.4(COX10):c.2T>C (p.Met1Thr) rs387906383
NM_001303.4(COX10):c.587C>A (p.Thr196Lys) rs104894555
NM_001303.4(COX10):c.612C>A (p.Asn204Lys) rs104894560
NM_001370595.2(COA8):c.-10dup rs559856575
NM_001370595.2(COA8):c.124-1G>A rs587777785
NM_001370595.2(COA8):c.170_173dup (p.Pro59fs)
NM_001370595.2(COA8):c.196C>T (p.Arg66Ter) rs587777784
NM_001370595.2(COA8):c.328GAA[1] (p.Glu111del) rs587777787
NM_001377299.1(NDUFS2):c.683G>A (p.Arg228Gln) rs121434427
NM_001377299.1(NDUFS2):c.686C>A (p.Pro229Gln) rs121434428
NM_001377299.1(NDUFS2):c.923A>G (p.Tyr308Cys)
NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly) rs1555745989
NM_001861.6(COX4I1):c.303_304delinsTT (p.Lys101_Thr102delinsAsnSer) rs1906146144
NM_001861.6(COX4I1):c.454C>A (p.Pro152Thr) rs1906247824
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys) rs778740017
NM_001916.5(CYC1):c.288G>T (p.Trp96Cys) rs587777041
NM_001916.5(CYC1):c.643C>T (p.Leu215Phe) rs587777042
NM_002488.5(NDUFA2):c.134A>C (p.Lys45Thr) rs757982865
NM_002488.5(NDUFA2):c.170A>C (p.Glu57Ala) rs1757460270
NM_002488.5(NDUFA2):c.225del (p.Asn76fs) rs863224084
NM_002489.4(NDUFA4):c.42+1G>C rs1781236368
NM_002489.4(NDUFA4):c.42+1del
NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) rs750830935
NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) rs758833609
NM_002490.6(NDUFA6):c.309del (p.Met104fs) rs763006208
NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) rs1569463838
NM_002490.6(NDUFA6):c.355del (p.Leu119fs) rs781099275
NM_002491.3(NDUFB3):c.117del (p.Gly40_Leu41insTer) rs2125534778
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) rs121908985
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002495.4(NDUFS4):c.350+1G>A rs1260453815
NM_002495.4(NDUFS4):c.350+5G>A rs1751865973
NM_002495.4(NDUFS4):c.393dup (p.Glu132fs)
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter) rs104893899
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) rs587776949
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002496.4(NDUFS8):c.160C>T (p.Arg54Trp)
NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu) rs121912639
NM_002496.4(NDUFS8):c.476C>A (p.Ala159Asp) rs397514617
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.152dup (p.Ser52fs) rs782767225
NM_003172.4(SURF1):c.187C>T (p.Gln63Ter)
NM_003172.4(SURF1):c.312T>G (p.Pro104=)
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.323+2T>C rs1588691694
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) rs2119083553
NM_003172.4(SURF1):c.371G>A (p.Gly124Glu) rs28933402
NM_003172.4(SURF1):c.38_44del (p.Ala13fs)
NM_003172.4(SURF1):c.515+2T>G rs781787822
NM_003172.4(SURF1):c.516-1G>A
NM_003172.4(SURF1):c.532_535del (p.Asn178fs) rs1057517942
NM_003172.4(SURF1):c.550_551del (p.Arg184fs) rs1588689993
NM_003172.4(SURF1):c.552del (p.Lys185fs) rs782542152
NM_003172.4(SURF1):c.554dup (p.Lys186fs)
NM_003172.4(SURF1):c.574_575insCTCC (p.Arg192fs) rs2119081408
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.679T>C (p.Trp227Arg) rs398122806
NM_003172.4(SURF1):c.754_755del rs782007828
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.782_791del (p.Gly261fs)
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.820T>G (p.Tyr274Asp) rs121918658
NM_003172.4(SURF1):c.827_828del (p.Val276fs)
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187
NM_003366.4(UQCRC2):c.323G>A (p.Gly108Asp) rs2141927529
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp) rs374661051
NM_003366.4(UQCRC2):c.665G>C (p.Gly222Ala) rs1898386320
NM_004074.3(COX8A):c.115-1G>C rs869025575
NM_004146.6(NDUFB7):c.113-10C>G rs2074094096
NM_004255.4(COX5A):c.266T>G (p.Ile89Ser)
NM_004255.4(COX5A):c.319C>T (p.Arg107Cys) rs2065346374
NM_004375.5(COX11):c.35_36delinsG (p.Val12fs)
NM_004375.5(COX11):c.730G>C (p.Ala244Pro)
NM_004375.5(COX11):c.739C>A (p.Pro247Thr)
NM_004375.5(COX11):c.766dup (p.Thr256fs)
NM_004541.4(NDUFA1):c.111G>C (p.Arg37Ser) rs104894885
NM_004541.4(NDUFA1):c.22G>C (p.Gly8Arg) rs104894884
NM_004544.4(NDUFA10):c.384_385insAAT (p.Ser128_Tyr129insAsn) rs1057519415
NM_004544.4(NDUFA10):c.425A>G (p.Gln142Arg) rs387906873
NM_004544.4(NDUFA10):c.881T>C (p.Leu294Pro) rs1057519414
NM_004549.6(NDUFC2):c.173A>T (p.His58Leu) rs1859088426
NM_004549.6(NDUFC2):c.346_*7del (p.His116fs) rs1858924087
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) rs28939714
NM_004553.6(NDUFS6):c.186+2T>A rs1561102614
NM_004553.6(NDUFS6):c.320_323del (p.Thr107fs)
NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr) rs267606913
NM_004589.4(SCO1):c.263dup (p.Lys89fs) rs1176555010
NM_004589.4(SCO1):c.364_364+1del rs587776629
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu) rs104894630
NM_005002.5(NDUFA9):c.895C>T (p.Arg299Ter)
NM_005002.5(NDUFA9):c.962G>C (p.Arg321Pro) rs199592341
NM_005004.4(NDUFB8):c.184T>C (p.Tyr62His) rs1554843434
NM_005004.4(NDUFB8):c.189del (p.Glu63fs) rs1264186261
NM_005004.4(NDUFB8):c.227C>A (p.Pro76Gln) rs1239013578
NM_005004.4(NDUFB8):c.432C>G (p.Cys144Trp) rs1554843251
NM_005006.7(NDUFS1):c.1298_1325del (p.Gly433fs)
NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala) rs387907199
NM_005006.7(NDUFS1):c.1855G>A (p.Asp619Asn) rs397515447
NM_005006.7(NDUFS1):c.1880_1881del (p.Leu626_Ser627insTer)
NM_005006.7(NDUFS1):c.666_668del (p.Ile223del) rs397515383
NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val) rs199422226
NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg) rs1597176845
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) rs1568346416
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) rs1242465339
NM_006004.4(UQCRH):c.55-527_243+48del
NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys) rs387906929
NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser) rs1135402749
NM_007103.4(NDUFV1):c.336T>G (p.Tyr112Ter) rs1591109810
NM_007103.4(NDUFV1):c.475C>T (p.Arg159Ter)
NM_007103.4(NDUFV1):c.797dup (p.Arg267fs) rs2134085151
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.744_747del (p.Arg249fs)
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916
NM_014165.4(NDUFAF4):c.194T>C (p.Leu65Pro) rs63751061
NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) rs1554197721
NM_014222.3(NDUFA8):c.293G>T (p.Arg98Leu) rs1319414797
NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe) rs11544803
NM_015965.7(NDUFA13):c.194del (p.Phe65fs) rs2061105702
NM_016013.4(NDUFAF1):c.619A>C (p.Thr207Pro) rs387906956
NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg) rs376344575
NM_016360.4(TACO1):c.280+1G>C
NM_016360.4(TACO1):c.472dup (p.His158fs) rs587776513
NM_016360.4(TACO1):c.97dup (p.Arg33fs) rs759254294
NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) rs267606830
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017547.4(FOXRED1):c.733+1G>A
NM_017775.4(TTC19):c.517C>T (p.Gln173Ter) rs387907094
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) rs1187416161
NM_017775.4(TTC19):c.581+1G>A rs1970827663
NM_017775.4(TTC19):c.601_604del (p.Gly201fs) rs794726691
NM_017775.4(TTC19):c.718_719insA (p.Leu240fs)
NM_017775.4(TTC19):c.817G>T (p.Glu273Ter) rs1555530551
NM_017775.4(TTC19):c.829C>T (p.Gln277Ter) rs794726692
NM_017866.6(TMEM70):c.100dup (p.Ala34fs) rs1563697094
NM_017866.6(TMEM70):c.177dup (p.Ala60fs)
NM_017866.6(TMEM70):c.197del (p.Pro66fs) rs1376883697
NM_017866.6(TMEM70):c.224G>A (p.Trp75Ter)
NM_017866.6(TMEM70):c.30_31dup (p.Ala11fs)
NM_017866.6(TMEM70):c.336T>A (p.Tyr112Ter) rs1586636643
NM_017866.6(TMEM70):c.359del (p.Thr120fs) rs2131236556
NM_017866.6(TMEM70):c.368del (p.Pro123fs) rs2131236570
NM_017866.6(TMEM70):c.378dup (p.Thr127fs) rs1554599411
NM_017866.6(TMEM70):c.492del (p.Gly165fs)
NM_017866.6(TMEM70):c.497_498del (p.Tyr166fs)
NM_017866.6(TMEM70):c.500del (p.Val167fs) rs1426201422
NM_017866.6(TMEM70):c.505C>T (p.Arg169Ter)
NM_017866.6(TMEM70):c.578_579del (p.Thr193fs) rs777501387
NM_018480.7(TMEM126B):c.208C>T (p.Gln70Ter) rs886037857
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs) rs752316853
NM_018480.7(TMEM126B):c.401del (p.Asn134fs) rs886037835
NM_018838.5(NDUFA12):c.121dup (p.Glu41fs) rs1592708249
NM_018838.5(NDUFA12):c.224G>A (p.Trp75Ter) rs2136069811
NM_018838.5(NDUFA12):c.253G>T (p.Glu85Ter) rs1592704794
NM_018838.5(NDUFA12):c.395del (p.Lys132fs) rs2136056220
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter) rs1411237396
NM_018838.5(NDUFA12):c.5del (p.Glu2fs)
NM_018838.5(NDUFA12):c.83del (p.Phe28fs) rs1259705655
NM_018838.5(NDUFA12):c.86G>A (p.Arg29Lys) rs747101350
NM_021074.5(NDUFV2):c.120+5_120+8del rs752670374
NM_024120.5(NDUFAF5):c.145C>G (p.Arg49Gly) rs377078447
NM_024120.5(NDUFAF5):c.223-2A>T
NM_024120.5(NDUFAF5):c.24G>A (p.Trp8Ter)
NM_024120.5(NDUFAF5):c.29T>A (p.Leu10Ter)
NM_024120.5(NDUFAF5):c.477A>C (p.Leu159Phe) rs267606689
NM_024120.5(NDUFAF5):c.826C>T (p.Arg276Ter)
NM_024407.5(NDUFS7):c.17-1167C>G rs1568985256
NM_025152.2(NUBPL):c.[166G>A;815-27T>C]
NM_025152.3(NUBPL):c.579A>C (p.Leu193Phe) rs552722349
NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223delinsAlaLeuCysTer) rs879255565
NM_032317.3(DNAJC30):c.130_131del (p.Ser44fs)
NM_032317.3(DNAJC30):c.227ACC[1] (p.His77del)
NM_032317.3(DNAJC30):c.232C>T (p.Pro78Ser) rs2116654445
NM_032317.3(DNAJC30):c.302T>A (p.Leu101Gln) rs2116654140
NM_032317.3(DNAJC30):c.610G>T (p.Glu204Ter)
NM_032340.3(UQCC2):c.[23G>C;28C>T]
NM_032340.4(UQCC2):c.101G>A (p.Arg34Gln)
NM_032340.4(UQCC2):c.214-3C>G rs587777410
NM_032901.4(COX14):c.57G>A (p.Met19Ile) rs587776904
NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg) rs104894554
NM_152416.4(NDUFAF6):c.206A>T (p.Asp69Val) rs1057519085
NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) rs137853184
NM_152416.4(NDUFAF6):c.420+2_420+3insTA rs1829405956
NM_152416.4(NDUFAF6):c.485del (p.Asn162fs) rs762093523
NM_152416.4(NDUFAF6):c.555_559del (p.Tyr187fs) rs1179490149
NM_152416.4(NDUFAF6):c.805C>G (p.His269Asp) rs768273248
NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly) rs1057519086
NM_174889.5(NDUFAF2):c.103del (p.Ile35fs) rs1554076324
NM_174889.5(NDUFAF2):c.9G>A (p.Trp3Ter) rs1554076309
NM_175614.5(NDUFA11):c.97+5G>A rs1348957889
NM_181705.4(LYRM7):c.190TTA[3] (p.Leu66dup) rs869025603
NM_181705.4(LYRM7):c.214C>T (p.Gln72Ter) rs869025604
NM_181705.4(LYRM7):c.244+5dup rs869025602
NM_181705.4(LYRM7):c.245-1G>A
NM_181705.4(LYRM7):c.37del (p.Thr13fs) rs869025605
NM_181705.4(LYRM7):c.73G>A (p.Asp25Asn) rs587777433
NM_198076.6(COX20):c.154A>C (p.Thr52Pro) rs587777004
NM_198076.6(COX20):c.259C>T (p.Gln87Ter) rs1680275439
NM_198076.6(COX20):c.42+1G>A
NM_198076.6(COX20):c.98C>T (p.Ser33Leu) rs1456182343
NM_199069.2(NDUFAF3):c.229G>C (p.Gly77Arg) rs121918134
NM_199069.2(NDUFAF3):c.302G>A (p.Ser101Asn)
NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro) rs121918135
NM_199069.2(NDUFAF3):c.77+1G>A
NUBPL, 240-KB DEL AND 130-KB DUP
TTC19, 4-BP DEL, 964GGCT
TTC19, TRP186TER
nsv1197507

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