ClinVar Miner

List of variants reported as uncertain significance for Leigh syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 747
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.*1458A>G rs371572374 0.07783
NM_002496.4(NDUFS8):c.*40A>G rs61329983 0.02403
NM_004376.5(COX15):c.*3817A>G rs76530337 0.01896
NM_133259.4(LRPPRC):c.*1435C>T rs78163628 0.01439
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742 0.00819
NM_078470.6(COX15):c.-23G>T rs2231678 0.00765
NM_004376.6(COX15):c.-149G>T rs139698647 0.00745
NM_004376.5(COX15):c.*2701C>T rs114201692 0.00727
NM_078470.6(COX15):c.*1591C>T rs190369277 0.00705
NM_078470.6(COX15):c.*1590A>C rs181768654 0.00704
NM_000108.5(DLD):c.*1145A>T rs143750422 0.00638
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_005006.7(NDUFS1):c.-75A>G rs138818421 0.00612
NM_007103.4(NDUFV1):c.326+12G>A rs184136353 0.00588
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_004544.3(NDUFA10):c.-92C>T rs559797625 0.00474
NM_133259.4(LRPPRC):c.*399G>A rs149268737 0.00473
NM_001303.4(COX10):c.*305A>G rs143758001 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_004544.3(NDUFA10):c.-93G>T rs577432343 0.00460
NM_020354.5(ENTPD7):c.*4789T>C rs148302095 0.00414
NM_133259.4(LRPPRC):c.*343C>T rs144519599 0.00392
NM_078470.6(COX15):c.*3247T>C rs74775778 0.00380
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_004376.5(COX15):c.*3564C>T rs12241912 0.00342
NM_004376.5(COX15):c.*3618A>G rs76656125 0.00341
NM_004376.5(COX15):c.*2842T>C rs11190252 0.00339
NM_004544.4(NDUFA10):c.*925C>G rs149563558 0.00292
NM_005006.7(NDUFS1):c.421-7A>G rs192949406 0.00292
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494 0.00289
NM_004544.4(NDUFA10):c.*1943A>G rs148829605 0.00283
NM_003172.4(SURF1):c.54+10G>A rs587598397 0.00276
NM_001303.4(COX10):c.*1148G>A rs151138383 0.00272
NM_000108.5(DLD):c.*1422C>T rs568479120 0.00265
NM_078470.6(COX15):c.582+14A>G rs79410539 0.00263
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_004168.4(SDHA):c.*133G>C rs193112615 0.00255
NM_004544.4(NDUFA10):c.*546G>A rs192485848 0.00252
NM_003172.4(SURF1):c.*47G>A rs138050767 0.00242
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180 0.00237
NM_004544.4(NDUFA10):c.*372C>T rs143693330 0.00222
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00220
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073 0.00215
NM_004544.4(NDUFA10):c.*1161C>T rs184925264 0.00213
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_000108.5(DLD):c.*1640A>G rs148148357 0.00209
NM_004544.4(NDUFA10):c.*632G>A rs189306598 0.00206
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960 0.00196
NM_004376.5(COX15):c.*3086G>T rs1000984 0.00191
NM_004544.4(NDUFA10):c.*3141C>T rs144864637 0.00185
NM_004376.6(COX15):c.-590G>A rs191339901 0.00184
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) rs148544177 0.00172
NM_004544.4(NDUFA10):c.*2242T>C rs111969519 0.00170
NM_133259.4(LRPPRC):c.*1152C>G rs562361644 0.00169
NM_004544.4(NDUFA10):c.548-9A>G rs147876332 0.00166
NM_004376.5(COX15):c.*4110T>G rs56206689 0.00164
NM_004376.5(COX15):c.*4435A>G rs74152722 0.00163
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766 0.00153
NM_004376.5(COX15):c.*3211G>A rs548503022 0.00150
NM_078470.6(COX15):c.*1776T>A rs145963002 0.00148
NM_004544.4(NDUFA10):c.*1198G>A rs143353868 0.00145
NM_005006.7(NDUFS1):c.*561T>C rs146538309 0.00141
NM_004544.4(NDUFA10):c.*1879G>A rs143421241 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_133259.4(LRPPRC):c.*1981A>T rs180886841 0.00129
NM_004376.6(COX15):c.-406C>G rs11595470 0.00128
NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=) rs147000685 0.00118
NM_004168.4(SDHA):c.1368G>A (p.Ser456=) rs149875171 0.00117
NM_004544.4(NDUFA10):c.*1915G>A rs144590599 0.00117
NM_007103.4(NDUFV1):c.72+15G>T rs187400726 0.00109
NM_001079866.2(BCS1L):c.-14G>A rs367721351 0.00103
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622 0.00102
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273 0.00100
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882 0.00099
NM_004544.4(NDUFA10):c.*3095A>G rs576198967 0.00099
NM_001303.4(COX10):c.981C>T (p.Asn327=) rs146175179 0.00098
NM_133259.4(LRPPRC):c.*1563C>T rs186518252 0.00096
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374 0.00093
NM_004544.4(NDUFA10):c.*2659A>C rs559550890 0.00091
NM_133259.4(LRPPRC):c.*1872C>T rs147686285 0.00090
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) rs151104852 0.00087
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) rs146731467 0.00086
NM_133259.4(LRPPRC):c.*577G>T rs183378286 0.00084
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386 0.00083
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611 0.00081
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_078470.6(COX15):c.*1851G>T rs754063121 0.00080
NM_004168.4(SDHA):c.1002G>A (p.Ala334=) rs144252500 0.00075
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_078470.6(COX15):c.*1850G>T rs755134012 0.00073
NM_004544.4(NDUFA10):c.*3347C>T rs537694779 0.00072
NM_024407.5(NDUFS7):c.*16C>T rs573586959 0.00069
NM_078470.6(COX15):c.*2193A>T rs557527426 0.00069
NM_078470.6(COX15):c.*1716G>A rs186244558 0.00067
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) rs115507225 0.00066
NM_002496.3(NDUFS8):c.-76C>T rs544094420 0.00065
NM_007103.4(NDUFV1):c.-45T>G rs373940385 0.00064
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022 0.00064
NM_004544.4(NDUFA10):c.*1303C>T rs575940810 0.00063
NM_004544.4(NDUFA10):c.*2297T>G rs773090030 0.00063
NM_004589.4(SCO1):c.*81A>G rs140538532 0.00063
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_001079866.2(BCS1L):c.-50+458T>G rs188224298 0.00058
NM_004589.4(SCO1):c.868A>G (p.Ile290Val) rs139771078 0.00058
NM_005006.7(NDUFS1):c.*438C>T rs561980718 0.00057
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054 0.00055
NM_004544.4(NDUFA10):c.*1482C>G rs557576958 0.00054
NM_000108.5(DLD):c.*1307C>T rs568807016 0.00052
NM_005006.7(NDUFS1):c.*151T>C rs533179154 0.00052
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) rs142368721 0.00051
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) rs780400922 0.00051
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_005006.7(NDUFS1):c.*938C>T rs780498090 0.00049
NM_000108.5(DLD):c.*1791_*1794del rs760145994 0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_004544.4(NDUFA10):c.*2149C>T rs570872300 0.00044
NM_000108.5(DLD):c.*1857A>C rs774099916 0.00040
NM_002496.4(NDUFS8):c.*44C>T rs201815115 0.00040
NM_133259.4(LRPPRC):c.1842+10C>T rs373649496 0.00040
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) rs144200704 0.00039
NM_007103.4(NDUFV1):c.155+12C>T rs199963966 0.00039
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) rs149243712 0.00039
NM_001303.4(COX10):c.*859G>T rs974629254 0.00038
NM_002496.4(NDUFS8):c.200-14C>T rs373128833 0.00038
NM_004376.7(COX15):c.-84G>A rs574143521 0.00036
NM_004544.4(NDUFA10):c.*1992C>T rs373034894 0.00036
NM_133259.4(LRPPRC):c.*1911G>A rs533572540 0.00036
NM_004551.3(NDUFS3):c.381+6T>C rs377579231 0.00035
NM_078470.6(COX15):c.*2060C>T rs886046606 0.00035
NM_004551.3(NDUFS3):c.628-7C>T rs11039306 0.00034
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316 0.00034
NM_078470.6(COX15):c.*2282G>A rs762075313 0.00034
NM_133259.4(LRPPRC):c.1920+11A>G rs373513189 0.00034
NM_004551.3(NDUFS3):c.*32G>A rs189495301 0.00033
NM_001303.4(COX10):c.-29C>A rs373184679 0.00032
NM_004589.4(SCO1):c.5C>A (p.Ala2Glu) rs147487151 0.00032
NM_004168.4(SDHA):c.*179G>A rs980815395 0.00031
NM_004544.3(NDUFA10):c.-87A>C rs886055827 0.00031
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) rs201806038 0.00031
NM_078470.6(COX15):c.*1309T>C rs556850599 0.00031
NM_078470.6(COX15):c.929C>G (p.Pro310Arg) rs138293000 0.00031
NM_133259.4(LRPPRC):c.*1584G>A rs372330583 0.00031
NM_004376.5(COX15):c.*4392G>A rs764641759 0.00030
NM_133259.4(LRPPRC):c.*2376C>G rs886056040 0.00030
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_133259.4(LRPPRC):c.*1121G>T rs371325663 0.00026
NM_133259.4(LRPPRC):c.*2289A>T rs777772528 0.00026
NM_000108.5(DLD):c.*1736T>C rs190655078 0.00025
NM_004168.4(SDHA):c.895+13G>A rs201461936 0.00025
NM_000108.5(DLD):c.*845G>A rs750426584 0.00024
NM_004544.4(NDUFA10):c.*1206G>A rs192203978 0.00024
NM_004544.4(NDUFA10):c.*1245G>A rs187916829 0.00024
NM_004544.4(NDUFA10):c.*2685C>A rs114807372 0.00024
NM_078470.6(COX15):c.*1594C>G rs886046607 0.00024
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) rs149693840 0.00024
NM_004376.5(COX15):c.*3800C>A rs576990987 0.00023
NM_004376.6(COX15):c.-114A>G rs539821050 0.00023
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782 0.00022
NM_002496.4(NDUFS8):c.502-13C>T rs199793417 0.00022
NM_004168.4(SDHA):c.-2A>T rs763680697 0.00022
NM_004589.4(SCO1):c.*326C>T rs959024756 0.00022
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=) rs139299777 0.00022
NM_001303.4(COX10):c.192G>A (p.Leu64=) rs569444237 0.00021
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) rs141187412 0.00021
NM_005006.7(NDUFS1):c.*966A>G rs755776989 0.00021
NM_000108.5(DLD):c.*1092C>T rs546777301 0.00020
NM_004551.3(NDUFS3):c.*39C>T rs145121567 0.00020
NM_007103.4(NDUFV1):c.700+12C>T rs200417926 0.00020
NM_004544.4(NDUFA10):c.749+11C>T rs200760509 0.00019
NM_005006.7(NDUFS1):c.*130A>C rs200736574 0.00019
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) rs199543483 0.00019
NM_078470.6(COX15):c.*2745T>G rs952880831 0.00019
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171 0.00019
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=) rs148726142 0.00018
NM_001303.4(COX10):c.624+4A>G rs199668725 0.00017
NM_133259.4(LRPPRC):c.*409C>G rs187382374 0.00017
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745 0.00016
NM_001303.4(COX10):c.*1459del rs574015313 0.00016
NM_001303.4(COX10):c.*823C>T rs886052609 0.00016
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) rs202207627 0.00016
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) rs587669420 0.00016
NM_004589.4(SCO1):c.*349C>G rs151279533 0.00016
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964 0.00016
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) rs375120743 0.00016
NM_133259.4(LRPPRC):c.*2099C>A rs771863074 0.00016
NM_133259.4(LRPPRC):c.*2192A>G rs189755235 0.00016
NM_133259.4(LRPPRC):c.*2224A>C rs757205247 0.00016
NM_133259.4(LRPPRC):c.*456G>C rs886056052 0.00016
NM_133259.4(LRPPRC):c.1262-12T>C rs149449510 0.00016
NM_133259.4(LRPPRC):c.141C>G (p.Pro47=) rs559176918 0.00016
NM_133259.4(LRPPRC):c.1583-14A>G rs372371276 0.00016
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691 0.00015
NM_133259.4(LRPPRC):c.179C>T (p.Ala60Val) rs546399905 0.00015
NM_000108.5(DLD):c.*739G>A rs181103944 0.00014
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951 0.00014
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_004168.4(SDHA):c.777C>T (p.Tyr259=) rs140243793 0.00014
NM_004544.4(NDUFA10):c.*389C>T rs539829771 0.00014
NM_005006.7(NDUFS1):c.*866A>C rs749790811 0.00014
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639 0.00014
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly) rs200138144 0.00014
NM_000108.5(DLD):c.-8G>T rs372155330 0.00013
NM_001303.4(COX10):c.*591_*592del rs886052606 0.00013
NM_001303.4(COX10):c.*894G>T rs573080780 0.00013
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) rs191412461 0.00013
NM_004544.4(NDUFA10):c.*1057T>G rs541016943 0.00013
NM_078470.6(COX15):c.*2857A>G rs576268362 0.00013
NM_078470.6(COX15):c.131G>A (p.Ser44Asn) rs141506146 0.00013
NM_078470.6(COX15):c.255T>C (p.Ile85=) rs147881961 0.00013
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys) rs199706677 0.00013
NM_004544.4(NDUFA10):c.*2111G>A rs752139055 0.00012
NM_005006.7(NDUFS1):c.*27C>T rs369746514 0.00012
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=) rs147710123 0.00012
NM_078470.6(COX15):c.*1362G>A rs750145039 0.00012
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) rs148302981 0.00011
NM_001303.4(COX10):c.*13G>A rs371047487 0.00011
NM_004544.4(NDUFA10):c.*2649G>A rs886055815 0.00011
NM_004544.4(NDUFA10):c.*3409G>A rs146483651 0.00011
NM_078470.6(COX15):c.*2839G>T rs1025606598 0.00011
NM_174889.4(NDUFAF2):c.-63G>T rs886060724 0.00011
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218 0.00011
NM_004168.4(SDHA):c.*189C>T rs185107377 0.00010
NM_004376.5(COX15):c.*3411G>C rs914156906 0.00010
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) rs768582587 0.00010
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr) rs143216424 0.00010
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889 0.00010
NM_133259.4(LRPPRC):c.3901-6T>G rs553466522 0.00010
NM_133259.4(LRPPRC):c.70C>G (p.Leu24Val) rs749629864 0.00010
NM_000108.5(DLD):c.*1877A>G rs182010485 0.00009
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) rs376391115 0.00009
NM_004376.5(COX15):c.*2742A>G rs188328622 0.00009
NM_004544.4(NDUFA10):c.*3067C>T rs564992184 0.00009
NM_004544.4(NDUFA10):c.*765C>T rs144208727 0.00009
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp) rs138887128 0.00009
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr) rs773111037 0.00009
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256 0.00009
NM_133259.4(LRPPRC):c.*1894C>T rs563480210 0.00009
NM_133259.4(LRPPRC):c.*2245A>G rs758080975 0.00009
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys) rs760016065 0.00009
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr) rs142097048 0.00009
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg) rs201822068 0.00008
NM_004168.4(SDHA):c.1527G>A (p.Ser509=) rs746453879 0.00008
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) rs375576259 0.00008
NM_004376.6(COX15):c.-133T>C rs566424487 0.00008
NM_004544.4(NDUFA10):c.*1214C>T rs546735567 0.00008
NM_004544.4(NDUFA10):c.*2900G>A rs752124492 0.00008
NM_004551.2(NDUFS3):c.-30C>T rs375483884 0.00008
NM_004589.4(SCO1):c.411G>A (p.Gly137=) rs371690301 0.00008
NM_004589.4(SCO1):c.787A>G (p.Ile263Val) rs111708860 0.00008
NM_078470.6(COX15):c.665G>A (p.Arg222His) rs377568460 0.00008
NM_133259.4(LRPPRC):c.*996A>G rs572718388 0.00008
NM_000108.5(DLD):c.*1505C>T rs1053262850 0.00007
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_002496.4(NDUFS8):c.502-10C>T rs369961682 0.00007
NM_003172.4(SURF1):c.321C>T (p.Ala107=) rs141425824 0.00007
NM_004544.4(NDUFA10):c.*1486C>T rs746931112 0.00007
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) rs3740654 0.00007
NM_004589.4(SCO1):c.689C>T (p.Thr230Met) rs141066877 0.00007
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=) rs757488156 0.00007
NM_078470.6(COX15):c.*3670G>A rs886046600 0.00007
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) rs775605330 0.00007
NM_001303.4(COX10):c.-24G>A rs201257809 0.00006
NM_001303.4(COX10):c.260C>T (p.Thr87Ile) rs144000161 0.00006
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) rs1804688 0.00006
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610 0.00006
NM_003172.4(SURF1):c.352A>T (p.Arg118Trp) rs201492662 0.00006
NM_004168.4(SDHA):c.*102G>A rs1009017730 0.00006
NM_004376.5(COX15):c.*3470G>C rs988381164 0.00006
NM_004376.6(COX15):c.-586C>T rs186438310 0.00006
NM_004544.4(NDUFA10):c.*3205G>A rs886055811 0.00006
NM_004544.4(NDUFA10):c.*361A>G rs778261754 0.00006
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) rs117981655 0.00006
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187 0.00006
NM_004589.3(SCO1):c.-49C>T rs778522503 0.00006
NM_004589.4(SCO1):c.*594A>G rs183020275 0.00006
NM_004589.4(SCO1):c.15C>T (p.Val5=) rs780334801 0.00006
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn) rs769276632 0.00006
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500 0.00006
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) rs376958800 0.00006
NM_133259.4(LRPPRC):c.*1372G>A rs750310194 0.00006
NM_133259.4(LRPPRC):c.*1587C>T rs886056046 0.00006
NM_133259.4(LRPPRC):c.*1653G>A rs886056045 0.00006
NM_133259.4(LRPPRC):c.*518A>T rs138559252 0.00006
NM_133259.4(LRPPRC):c.*667C>T rs533028399 0.00006
NM_133259.4(LRPPRC):c.1009+15A>T rs572849791 0.00006
NM_133259.4(LRPPRC):c.3666C>T (p.Phe1222=) rs145105621 0.00006
NM_133259.4(LRPPRC):c.803A>C (p.Asp268Ala) rs143290138 0.00006
NM_174889.4(NDUFAF2):c.-66G>C rs376045901 0.00006
NM_001079866.2(BCS1L):c.-85G>A rs938140522 0.00005
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) rs756932413 0.00005
NM_001303.4(COX10):c.173G>A (p.Arg58His) rs772223730 0.00005
NM_002496.4(NDUFS8):c.199+5G>A rs373522607 0.00005
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His) rs139334907 0.00005
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) rs863224226 0.00005
NM_003172.4(SURF1):c.507C>T (p.Thr169=) rs782614599 0.00005
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=) rs118106981 0.00005
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys) rs928084265 0.00005
NM_004589.4(SCO1):c.640G>A (p.Ala214Thr) rs145764824 0.00005
NM_133259.4(LRPPRC):c.*485C>T rs886056051 0.00005
NM_133259.4(LRPPRC):c.1678-7T>C rs201370020 0.00005
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) rs769579395 0.00005
NM_000108.5(DLD):c.*1876G>A rs142001971 0.00004
NM_001079866.2(BCS1L):c.-50+425T>C rs886055625 0.00004
NM_001303.4(COX10):c.*535C>A rs886052604 0.00004
NM_001303.4(COX10):c.543G>A (p.Pro181=) rs371273328 0.00004
NM_002495.4(NDUFS4):c.-22C>A rs144843461 0.00004
NM_004168.4(SDHA):c.1014G>A (p.Ala338=) rs201341132 0.00004
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619 0.00004
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) rs780064103 0.00004
NM_004376.6(COX15):c.-265T>G rs373242921 0.00004
NM_004376.6(COX15):c.-338C>T rs751586131 0.00004
NM_004544.4(NDUFA10):c.*1594G>A rs773071160 0.00004
NM_004544.4(NDUFA10):c.*2455C>G rs756778773 0.00004
NM_004544.4(NDUFA10):c.*3557G>A rs149933652 0.00004
NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg) rs759587515 0.00004
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) rs149783296 0.00004
NM_004589.4(SCO1):c.*61A>C rs886052594 0.00004
NM_004589.4(SCO1):c.*731A>G rs1019914508 0.00004
NM_004589.4(SCO1):c.259C>T (p.Pro87Ser) rs757958481 0.00004
NM_004589.4(SCO1):c.33T>C (p.Val11=) rs780127886 0.00004
NM_004589.4(SCO1):c.579G>T (p.Leu193=) rs376145746 0.00004
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915 0.00004
NM_007103.4(NDUFV1):c.1309-9C>T rs374581520 0.00004
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val) rs565395435 0.00004
NM_024407.5(NDUFS7):c.455+13C>T rs376025020 0.00004
NM_078470.6(COX15):c.*1122C>G rs142892403 0.00004
NM_078470.6(COX15):c.*1349A>C rs779762294 0.00004
NM_078470.6(COX15):c.*2167A>G rs1487355609 0.00004
NM_078470.6(COX15):c.*2620C>T rs1327045732 0.00004
NM_078470.6(COX15):c.*2850A>G rs895123603 0.00004
NM_078470.6(COX15):c.*2898A>G rs886046601 0.00004
NM_078470.6(COX15):c.164G>A (p.Arg55Lys) rs777532861 0.00004
NM_078470.6(COX15):c.784C>T (p.Arg262Ter) rs774366079 0.00004
NM_133259.4(LRPPRC):c.*218A>G rs949524933 0.00004
NM_133259.4(LRPPRC):c.*2230A>C rs866243257 0.00004
NM_133259.4(LRPPRC):c.*587C>T rs760992842 0.00004
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063 0.00004
NM_133259.4(LRPPRC):c.1300G>A (p.Gly434Ser) rs760756132 0.00004
NM_133259.4(LRPPRC):c.2228C>T (p.Ser743Phe) rs779873239 0.00004
NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala) rs139493671 0.00004
NM_133259.4(LRPPRC):c.843C>T (p.Gly281=) rs766703715 0.00004
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=) rs550008432 0.00004
NM_001303.4(COX10):c.*152T>A rs886052602 0.00003
NM_001303.4(COX10):c.*628C>T rs886052607 0.00003
NM_001303.4(COX10):c.44-3T>C rs759643676 0.00003
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) rs368876333 0.00003
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe) rs201430870 0.00003
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258 0.00003
NM_003172.4(SURF1):c.328A>G (p.Met110Val) rs782754332 0.00003
NM_003172.4(SURF1):c.736A>G (p.Ile246Val) rs782480169 0.00003
NM_004168.4(SDHA):c.441C>T (p.Pro147=) rs201453889 0.00003
NM_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076 0.00003
NM_004376.5(COX15):c.*3330A>G rs769776249 0.00003
NM_004376.5(COX15):c.*3652A>G rs1033966106 0.00003
NM_004376.5(COX15):c.*3729C>G rs886046597 0.00003
NM_004376.5(COX15):c.*4181C>A rs1009446425 0.00003
NM_004376.6(COX15):c.-142A>C rs560024737 0.00003
NM_004544.4(NDUFA10):c.*1011A>G rs575477219 0.00003
NM_004544.4(NDUFA10):c.*2648C>T rs953906857 0.00003
NM_004544.4(NDUFA10):c.*3098A>T rs886055813 0.00003
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys) rs762669820 0.00003
NM_004589.4(SCO1):c.*80A>G rs1338702106 0.00003
NM_004589.4(SCO1):c.140G>A (p.Arg47Gln) rs746265672 0.00003
NM_005006.7(NDUFS1):c.-61G>C rs367762150 0.00003
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) rs774332882 0.00003
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_007103.4(NDUFV1):c.843T>C (p.His281=) rs766555879 0.00003
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) rs368174338 0.00003
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val) rs775410920 0.00003
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) rs775856806 0.00003
NM_078470.6(COX15):c.*2594T>G rs1470572029 0.00003
NM_133259.4(LRPPRC):c.*110G>A rs997583952 0.00003
NM_133259.4(LRPPRC):c.*1816T>C rs886056043 0.00003
NM_133259.4(LRPPRC):c.-19C>G rs574328970 0.00003
NM_133259.4(LRPPRC):c.1219C>G (p.Leu407Val) rs368164663 0.00003
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly) rs886056062 0.00003
NM_133259.4(LRPPRC):c.1369+5G>A rs199628926 0.00003
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045 0.00003
NM_000108.5(DLD):c.*355A>G rs886061910 0.00002
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119 0.00002
NM_000108.5(DLD):c.226C>T (p.Leu76Phe) rs967089304 0.00002
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027 0.00002
NM_001303.4(COX10):c.1169C>T (p.Ala390Val) rs749603596 0.00002
NM_001303.4(COX10):c.736C>T (p.Pro246Ser) rs777697759 0.00002
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys) rs1022912416 0.00002
NM_002495.4(NDUFS4):c.350+6T>C rs3733833 0.00002
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) rs373551988 0.00002
NM_003172.4(SURF1):c.437C>T (p.Ala146Val) rs140443050 0.00002
NM_003172.4(SURF1):c.643C>G (p.Pro215Ala) rs147165855 0.00002
NM_004168.4(SDHA):c.1580G>A (p.Arg527His) rs766352407 0.00002
NM_004168.4(SDHA):c.1725G>A (p.Ala575=) rs758252610 0.00002
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) rs1318046349 0.00002
NM_004376.5(COX15):c.*4212G>A rs1381915856 0.00002
NM_004544.4(NDUFA10):c.*1665C>A rs1314058965 0.00002
NM_004544.4(NDUFA10):c.*2382C>A rs1289543938 0.00002
NM_004544.4(NDUFA10):c.*3113G>A rs886055812 0.00002
NM_004544.4(NDUFA10):c.1000-3C>G rs199648872 0.00002
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=) rs749199433 0.00002
NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly) rs1222086753 0.00002
NM_004589.4(SCO1):c.2T>C (p.Met1Thr) rs371521614 0.00002
NM_004589.4(SCO1):c.304T>G (p.Phe102Val) rs539094737 0.00002
NM_004589.4(SCO1):c.771+3G>C rs376237477 0.00002
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502 0.00002
NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu) rs753686111 0.00002
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln) rs368184231 0.00002
NM_078470.6(COX15):c.*2959G>C rs984578663 0.00002
NM_078470.6(COX15):c.841G>A (p.Val281Met) rs201703572 0.00002
NM_078470.6(COX15):c.84A>G (p.Arg28=) rs370595065 0.00002
NM_133259.4(LRPPRC):c.*1895G>A rs886056042 0.00002
NM_133259.4(LRPPRC):c.1558A>G (p.Asn520Asp) rs754771907 0.00002
NM_133259.4(LRPPRC):c.1677+7C>T rs374995996 0.00002
NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val) rs750526576 0.00002
NM_133259.4(LRPPRC):c.525T>C (p.Asn175=) rs570349090 0.00002
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064 0.00002
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068 0.00002
NM_000108.5(DLD):c.*1401G>T rs1266926415 0.00001
NM_000108.5(DLD):c.*1724C>G rs886061913 0.00001
NM_000108.5(DLD):c.*225C>T rs553824101 0.00001
NM_000108.5(DLD):c.*394A>G rs1246423607 0.00001
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602 0.00001
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846 0.00001
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_001079866.2(BCS1L):c.258T>C (p.His86=) rs886055627 0.00001
NM_001079866.2(BCS1L):c.321-12G>A rs776363896 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_001303.4(COX10):c.*1002C>T rs1326135885 0.00001
NM_001303.4(COX10):c.*144T>C rs1906742963 0.00001
NM_001303.4(COX10):c.*485G>A rs931361027 0.00001
NM_001303.4(COX10):c.*564dup rs886052605 0.00001
NM_001303.4(COX10):c.*653G>A rs537449689 0.00001
NM_001303.4(COX10):c.*739A>G rs886052608 0.00001
NM_001303.4(COX10):c.870G>A (p.Val290=) rs1189180230 0.00001
NM_002496.4(NDUFS8):c.*26T>G rs886048592 0.00001
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259 0.00001
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134 0.00001
NM_002496.4(NDUFS8):c.501+12C>G rs372004236 0.00001
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg) rs1371377502 0.00001
NM_003172.4(SURF1):c.106+15C>G rs781892153 0.00001
NM_003172.4(SURF1):c.366C>T (p.Val122=) rs886063630 0.00001
NM_003172.4(SURF1):c.629C>T (p.Thr210Ile) rs1836455088 0.00001
NM_003172.4(SURF1):c.801G>A (p.Leu267=) rs782120692 0.00001
NM_003172.4(SURF1):c.836A>G (p.Tyr279Cys) rs587758543 0.00001
NM_004168.3(SDHA):c.-63G>A rs886060513 0.00001
NM_004168.4(SDHA):c.1188G>A (p.Thr396=) rs778667374 0.00001
NM_004168.4(SDHA):c.558C>T (p.Ala186=) rs199618059 0.00001
NM_004168.4(SDHA):c.896-11G>T rs774043076 0.00001
NM_004376.5(COX15):c.*2841G>A rs886046599 0.00001
NM_004376.5(COX15):c.*4152C>T rs886046595 0.00001
NM_004376.6(COX15):c.-307C>G rs886046614 0.00001
NM_004376.6(COX15):c.-472T>C rs550813748 0.00001
NM_004544.4(NDUFA10):c.*105G>A rs886055825 0.00001
NM_004544.4(NDUFA10):c.*1262C>T rs759194775 0.00001
NM_004544.4(NDUFA10):c.*1709T>C rs562457080 0.00001
NM_004544.4(NDUFA10):c.*1927G>C rs1227609332 0.00001
NM_004544.4(NDUFA10):c.*2192T>A rs886055817 0.00001
NM_004544.4(NDUFA10):c.*2350G>A rs1218747092 0.00001
NM_004544.4(NDUFA10):c.*3143C>T rs1357789210 0.00001
NM_004544.4(NDUFA10):c.*3711A>G rs1466622883 0.00001
NM_004544.4(NDUFA10):c.*445C>G rs563264912 0.00001
NM_004544.4(NDUFA10):c.*489A>G rs886055824 0.00001
NM_004544.4(NDUFA10):c.*804T>C rs1422021026 0.00001
NM_004544.4(NDUFA10):c.*857G>C rs1303822860 0.00001
NM_004544.4(NDUFA10):c.460+5A>G rs1158773739 0.00001
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=) rs980893132 0.00001
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr) rs1188020120 0.00001
NM_004551.2(NDUFS3):c.-41T>C rs750965789 0.00001
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys) rs201457989 0.00001
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His) rs780005953 0.00001
NM_004551.3(NDUFS3):c.657G>A (p.Val219=) rs377323760 0.00001
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His) rs201371939 0.00001
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) rs770306617 0.00001
NM_004589.4(SCO1):c.*127A>G rs779082082 0.00001
NM_004589.4(SCO1):c.*526T>C rs2074615394 0.00001
NM_004589.4(SCO1):c.29G>T (p.Arg10Leu) rs770075115 0.00001
NM_004589.4(SCO1):c.673G>A (p.Val225Ile) rs886052595 0.00001
NM_004589.4(SCO1):c.724A>C (p.Arg242=) rs761217696 0.00001
NM_005006.7(NDUFS1):c.*641A>G rs886055501 0.00001
NM_005006.7(NDUFS1):c.*756A>T rs755460274 0.00001
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913 0.00001
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr) rs1434275816 0.00001
NM_005006.7(NDUFS1):c.261+6T>C rs748906579 0.00001
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=) rs780235386 0.00001
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275 0.00001
NM_005006.7(NDUFS1):c.63T>C (p.Val21=) rs756632601 0.00001
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) rs371426372 0.00001
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu) rs201727252 0.00001
NM_007103.4(NDUFV1):c.1308+7A>T rs767679135 0.00001
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900 0.00001
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121 0.00001
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) rs886048589 0.00001
NM_024407.5(NDUFS7):c.*8G>A rs756081375 0.00001
NM_024407.5(NDUFS7):c.*94G>A rs1329105128 0.00001
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) rs201222388 0.00001
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=) rs1193585808 0.00001
NM_078470.6(COX15):c.*1474C>T rs886046608 0.00001
NM_078470.6(COX15):c.*2701A>G rs886046602 0.00001
NM_078470.6(COX15):c.161G>A (p.Gly54Glu) rs781108007 0.00001
NM_078470.6(COX15):c.293C>T (p.Ser98Leu) rs1315877896 0.00001
NM_078470.6(COX15):c.495G>T (p.Leu165=) rs2036978379 0.00001
NM_078470.6(COX15):c.832+9C>T rs777349150 0.00001
NM_133259.4(LRPPRC):c.*1370G>A rs1319087266 0.00001
NM_133259.4(LRPPRC):c.*1719G>A rs1670288640 0.00001
NM_133259.4(LRPPRC):c.*2277A>G rs886056041 0.00001
NM_133259.4(LRPPRC):c.*420C>T rs1354819175 0.00001
NM_133259.4(LRPPRC):c.*534G>T rs553327890 0.00001
NM_133259.4(LRPPRC):c.1305T>C (p.Phe435=) rs886056059 0.00001
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys) rs762224854 0.00001
NM_133259.4(LRPPRC):c.1921-7A>G rs779696239 0.00001
NM_133259.4(LRPPRC):c.2216G>A (p.Arg739His) rs187274438 0.00001
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056 0.00001
NM_133259.4(LRPPRC):c.3364+6T>A rs543620356 0.00001
NM_133259.4(LRPPRC):c.3473T>C (p.Ile1158Thr) rs911047642 0.00001
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502 0.00001
NM_133259.4(LRPPRC):c.3648C>T (p.Phe1216=) rs370683872 0.00001
NM_133259.4(LRPPRC):c.3737A>G (p.Asn1246Ser) rs886056054 0.00001
NM_133259.4(LRPPRC):c.8C>T (p.Ala3Val) rs886056065 0.00001
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His) rs773988847 0.00001
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726 0.00001
NM_000108.5(DLD):c.*1027T>G rs372098056
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1231A>G rs2032385167
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*374G>T rs576270082
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*898C>T rs2032373871
NM_000108.5(DLD):c.-10C>T rs1269120569
NM_000108.5(DLD):c.1313T>C (p.Met438Thr) rs2032312825
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.30C>A (p.Ser10=) rs779166996
NM_000108.5(DLD):c.520A>G (p.Ile174Val) rs2031981415
NM_001079866.2(BCS1L):c.-43G>A rs145989550
NM_001079866.2(BCS1L):c.-53G>T rs886055624
NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val) rs886055626
NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) rs1939494232
NM_001303.3(COX10):c.-170C>G rs886052597
NM_001303.4(COX10):c.*1032T>A rs1906768949
NM_001303.4(COX10):c.*1367G>A rs555512140
NM_001303.4(COX10):c.*150_*152del rs200239586
NM_001303.4(COX10):c.*408G>A rs886052603
NM_001303.4(COX10):c.*539C>A rs1906754704
NM_001303.4(COX10):c.*628C>G rs886052607
NM_001303.4(COX10):c.*720G>A rs1174121283
NM_001303.4(COX10):c.-40G>A rs376921957
NM_001303.4(COX10):c.-89G>C rs188803165
NM_001303.4(COX10):c.-89G>T rs188803165
NM_001303.4(COX10):c.-90G>T rs886052598
NM_001303.4(COX10):c.123G>A (p.Arg41=) rs886052599
NM_001303.4(COX10):c.1305C>T (p.Gly435=) rs199737206
NM_001303.4(COX10):c.64T>A (p.Trp22Arg) rs540737897
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.*88T>A rs1740746273
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu) rs148595893
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=) rs1329465366
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu) rs746246241
NM_003172.4(SURF1):c.*93C>T rs1836416878
NM_003172.4(SURF1):c.226T>C (p.Leu76=) rs782036327
NM_003172.4(SURF1):c.706G>A (p.Ala236Thr) rs781807153
NM_004168.4(SDHA):c.*75A>G rs886060517
NM_004168.4(SDHA):c.-1C>T rs560932680
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1092C>T (p.Val364=) rs886060515
NM_004168.4(SDHA):c.1177G>A (p.Val393Met) rs372989971
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1969G>C (p.Val657Leu) rs6962
NM_004168.4(SDHA):c.1977A>G (p.Pro659=) rs768693502
NM_004168.4(SDHA):c.269T>C (p.Val90Ala) rs886060514
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn) rs1734960553
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp) rs1337777456
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004376.5(COX15):c.*3210C>T rs886046598
NM_004376.5(COX15):c.*3755G>A rs886046596
NM_004376.5(COX15):c.*4441G>C rs886046594
NM_004376.6(COX15):c.-232C>T rs886046613
NM_004376.6(COX15):c.-250G>C rs985074355
NM_004376.6(COX15):c.-602C>A rs886046616
NM_004544.4(NDUFA10):c.*1047T>C rs1694787943
NM_004544.4(NDUFA10):c.*1124C>T rs754187471
NM_004544.4(NDUFA10):c.*1129G>A rs886055822
NM_004544.4(NDUFA10):c.*1212T>C rs886055821
NM_004544.4(NDUFA10):c.*1391C>T rs552149779
NM_004544.4(NDUFA10):c.*1586A>G rs1483288404
NM_004544.4(NDUFA10):c.*1702G>A rs1694755462
NM_004544.4(NDUFA10):c.*1884G>C rs886055820
NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG rs886055819
NM_004544.4(NDUFA10):c.*2009G>C rs370309206
NM_004544.4(NDUFA10):c.*2042A>C rs886055818
NM_004544.4(NDUFA10):c.*2046T>C rs1694740787
NM_004544.4(NDUFA10):c.*2079A>G rs1574808891
NM_004544.4(NDUFA10):c.*2136T>C rs943989946
NM_004544.4(NDUFA10):c.*2397A>G rs886055816
NM_004544.4(NDUFA10):c.*2838C>A rs532456176
NM_004544.4(NDUFA10):c.*2997G>A rs886055814
NM_004544.4(NDUFA10):c.*3009T>C rs1694711139
NM_004544.4(NDUFA10):c.*3052G>A rs1003876097
NM_004544.4(NDUFA10):c.*3175T>G rs1694704488
NM_004544.4(NDUFA10):c.*3301C>T rs1694700570
NM_004544.4(NDUFA10):c.*3403A>G rs1574807018
NM_004544.4(NDUFA10):c.*3408T>C rs886055810
NM_004544.4(NDUFA10):c.*3456T>G rs1694694826
NM_004544.4(NDUFA10):c.*3490G>C rs1694693520
NM_004544.4(NDUFA10):c.*3724G>A rs1694684016
NM_004544.4(NDUFA10):c.*412A>G rs546052985
NM_004544.4(NDUFA10):c.*435A>G rs1054245819
NM_004544.4(NDUFA10):c.*548G>C rs1694810369
NM_004544.4(NDUFA10):c.*732T>G rs1349086163
NM_004544.4(NDUFA10):c.*740C>T rs886055823
NM_004544.4(NDUFA10):c.*861C>G rs551167199
NM_004544.4(NDUFA10):c.-34C>T rs920826583
NM_004544.4(NDUFA10):c.-36C>T rs886055826
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His) rs201449418
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu) rs558134843
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=) rs770747594
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val) rs1258770997
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro) rs1559403435
NM_004544.4(NDUFA10):c.558C>T (p.His186=) rs1407750102
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=) rs148656779
NM_004544.4(NDUFA10):c.749+5G>A rs1697147446
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly) rs758042753
NM_004551.3(NDUFS3):c.-15C>G rs950097510
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) rs1555198759
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) rs886048391
NM_004551.3(NDUFS3):c.381+5G>T rs886048392
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
NM_004589.3(SCO1):c.-53delA rs566330071
NM_004589.4(SCO1):c.*285C>T rs886052593
NM_004589.4(SCO1):c.*403A>G rs886052592
NM_004589.4(SCO1):c.*601del rs886052591
NM_004589.4(SCO1):c.153G>T (p.Ala51=) rs2074737981
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004589.4(SCO1):c.16C>T (p.Leu6=) rs61753148
NM_004589.4(SCO1):c.224C>T (p.Pro75Leu) rs370147170
NM_004589.4(SCO1):c.273G>A (p.Gly91=) rs886052596
NM_004589.4(SCO1):c.393C>T (p.Ile131=) rs778406995
NM_004589.4(SCO1):c.433C>T (p.His145Tyr) rs2074698464
NM_004589.4(SCO1):c.798G>C (p.Leu266Phe) rs1397651609
NM_005006.6(NDUFS1):c.-149T>G rs572965960
NM_005006.7(NDUFS1):c.*1077A>T rs917604810
NM_005006.7(NDUFS1):c.*459A>G rs1691173843
NM_005006.7(NDUFS1):c.*504G>A rs548641207
NM_005006.7(NDUFS1):c.*846dup rs58253838
NM_005006.7(NDUFS1):c.*864G>A rs1691159722
NM_005006.7(NDUFS1):c.*93dup rs200446477
NM_005006.7(NDUFS1):c.-101G>A rs983757976
NM_005006.7(NDUFS1):c.-31A>G rs1687818178
NM_005006.7(NDUFS1):c.-38T>G rs1559071008
NM_005006.7(NDUFS1):c.-73C>A rs367649369
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe) rs78042826
NM_005006.7(NDUFS1):c.1393-7del rs760292289
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.262-15del rs34184317
NM_005006.7(NDUFS1):c.262-15dup rs34184317
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu) rs1367512688
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly) rs1692265722
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr) rs774232299
NM_007103.3(NDUFV1):c.-111T>C rs563140258
NM_007103.3(NDUFV1):c.-159G>T rs1387676031
NM_007103.4(NDUFV1):c.*14C>T rs886048590
NM_007103.4(NDUFV1):c.-34T>A rs886048586
NM_007103.4(NDUFV1):c.-61A>G rs947406124
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=) rs1854932368
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=) rs147719815
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.4(NDUFV1):c.432G>T (p.Val144=) rs144087607
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val) rs1432435322
NM_024407.5(NDUFS7):c.*3CCG[4] rs3065757
NM_024407.5(NDUFS7):c.*3CCG[5] rs3065757
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) rs144570086
NM_078470.6(COX15):c.*1242A>G rs2036459883
NM_078470.6(COX15):c.*1361C>T rs886046610
NM_078470.6(COX15):c.*1793G>A rs574149332
NM_078470.6(COX15):c.*1957A>C rs2036431642
NM_078470.6(COX15):c.*2301G>A rs79573437
NM_078470.6(COX15):c.*2301G>C rs79573437
NM_078470.6(COX15):c.*2459G>T rs886046605
NM_078470.6(COX15):c.*2490T>C rs886046604
NM_078470.6(COX15):c.*2595C>T rs574033399
NM_078470.6(COX15):c.*2668C>G rs886046603
NM_078470.6(COX15):c.*3362T>C rs1296504635
NM_078470.6(COX15):c.*3638C>T rs2036362442
NM_078470.6(COX15):c.-26A>G rs2231677
NM_078470.6(COX15):c.-71T>C rs886046612
NM_078470.6(COX15):c.1029C>A (p.Leu343=) rs757725009
NM_078470.6(COX15):c.406G>C (p.Asp136His) rs766429756
NM_078470.6(COX15):c.717G>T (p.Trp239Cys) rs886046611
NM_078470.6(COX15):c.988-3C>T rs745556177
NM_078470.6(COX15):c.988-8C>A rs542092025
NM_133259.4(LRPPRC):c.*1355C>T rs1670301374
NM_133259.4(LRPPRC):c.*1387_*1390dup rs886056048
NM_133259.4(LRPPRC):c.*1435del rs886056047
NM_133259.4(LRPPRC):c.*1445_*1456dup rs57494476
NM_133259.4(LRPPRC):c.*1449_*1456dup rs57494476
NM_133259.4(LRPPRC):c.*1498G>A rs142253135
NM_133259.4(LRPPRC):c.*1652C>G rs1139249
NM_133259.4(LRPPRC):c.*1653G>T rs886056045
NM_133259.4(LRPPRC):c.*1665C>G rs1139250
NM_133259.4(LRPPRC):c.*1684C>A rs190524585
NM_133259.4(LRPPRC):c.*1685G>A rs774874630
NM_133259.4(LRPPRC):c.*1689G>T rs185767322
NM_133259.4(LRPPRC):c.*1717C>T rs1670288685
NM_133259.4(LRPPRC):c.*1752C>G rs1670287619
NM_133259.4(LRPPRC):c.*1806A>C rs886056044
NM_133259.4(LRPPRC):c.*1895G>T rs886056042
NM_133259.4(LRPPRC):c.*2041C>A rs7581308
NM_133259.4(LRPPRC):c.*2042G>T rs998481979
NM_133259.4(LRPPRC):c.*2048dup rs546907287
NM_133259.4(LRPPRC):c.*2157T>A rs1376980323
NM_133259.4(LRPPRC):c.*590C>T rs886056050
NM_133259.4(LRPPRC):c.*647G>C rs886056049
NM_133259.4(LRPPRC):c.*735C>G rs1670322978
NM_133259.4(LRPPRC):c.1038C>T (p.Val346=) rs1673950899
NM_133259.4(LRPPRC):c.1156-13dup rs747766605
NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val) rs886056058
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.1623A>T (p.Arg541Ser) rs1673163352
NM_133259.4(LRPPRC):c.1674C>T (p.Ser558=) rs376787135
NM_133259.4(LRPPRC):c.1735+5C>G rs373476696
NM_133259.4(LRPPRC):c.1762T>G (p.Leu588Val) rs775978547
NM_133259.4(LRPPRC):c.2471T>G (p.Ile824Arg) rs774104921
NM_133259.4(LRPPRC):c.2545T>C (p.Tyr849His) rs1672219378
NM_133259.4(LRPPRC):c.2680C>T (p.Leu894Phe) rs886056055
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133259.4(LRPPRC):c.3093A>C (p.Thr1031=) rs768083517
NM_133259.4(LRPPRC):c.3451A>G (p.Met1151Val) rs1670882770
NM_133259.4(LRPPRC):c.346+9A>C rs754438818
NM_133259.4(LRPPRC):c.3659A>C (p.Tyr1220Ser) rs775734947
NM_133259.4(LRPPRC):c.4156C>G (p.Leu1386Val) rs886056053
NM_133259.4(LRPPRC):c.441T>C (p.His147=) rs886056060
NM_133259.4(LRPPRC):c.5C>T (p.Ala2Val) rs1380043598
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_133259.4(LRPPRC):c.803A>G (p.Asp268Gly) rs143290138
NM_133259.4(LRPPRC):c.844G>A (p.Asp282Asn) rs1559043209
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.5(NDUFAF2):c.-23GC[3] rs886060725
NM_174889.5(NDUFAF2):c.128-14C>G rs537327206
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val) rs1752321893

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