ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 346
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HGVS dbSNP
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1092C>T rs546777301
NM_000108.5(DLD):c.*1307C>T rs568807016
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*1724C>G rs886061913
NM_000108.5(DLD):c.*1736T>C rs190655078
NM_000108.5(DLD):c.*1791_*1794del rs760145994
NM_000108.5(DLD):c.*1857A>C rs774099916
NM_000108.5(DLD):c.*1877A>G rs182010485
NM_000108.5(DLD):c.*225C>T rs553824101
NM_000108.5(DLD):c.*355A>G rs886061910
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*648G>A rs57801571
NM_000108.5(DLD):c.-8G>T rs372155330
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745
NM_001079866.2(BCS1L):c.-14G>A rs367721351
NM_001079866.2(BCS1L):c.-43G>A rs145989550
NM_001079866.2(BCS1L):c.-50+425T>C rs886055625
NM_001079866.2(BCS1L):c.-50+458T>G rs188224298
NM_001079866.2(BCS1L):c.-53G>T rs886055624
NM_001079866.2(BCS1L):c.321-12G>A rs776363896
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020
NM_001294332.1(SDHA):c.-63G>A rs886060513
NM_001303.3(COX10):c.-170C>G rs886052597
NM_001303.4(COX10):c.*1367G>A rs555512140
NM_001303.4(COX10):c.*13G>A rs371047487
NM_001303.4(COX10):c.*1459del rs574015313
NM_001303.4(COX10):c.*150_*152del rs200239586
NM_001303.4(COX10):c.*152T>A rs886052602
NM_001303.4(COX10):c.*408G>A rs886052603
NM_001303.4(COX10):c.*535C>A rs886052604
NM_001303.4(COX10):c.*564dup rs886052605
NM_001303.4(COX10):c.*591_*592del rs886052606
NM_001303.4(COX10):c.*628C>G rs886052607
NM_001303.4(COX10):c.*646C>G rs7214082
NM_001303.4(COX10):c.*739A>G rs886052608
NM_001303.4(COX10):c.*823C>T rs886052609
NM_001303.4(COX10):c.-24G>A rs201257809
NM_001303.4(COX10):c.-29C>A rs373184679
NM_001303.4(COX10):c.-40G>A rs376921957
NM_001303.4(COX10):c.-63C>T rs77877576
NM_001303.4(COX10):c.-90G>T rs886052598
NM_001303.4(COX10):c.123G>A (p.Arg41=) rs886052599
NM_001303.4(COX10):c.173G>A (p.Arg58His) rs772223730
NM_001303.4(COX10):c.192G>A (p.Leu64=) rs569444237
NM_001303.4(COX10):c.543G>A (p.Pro181=) rs371273328
NM_001303.4(COX10):c.624+4A>G rs199668725
NM_001303.4(COX10):c.64T>A (p.Trp22Arg) rs540737897
NM_001303.4(COX10):c.909C>T (p.Ala303=) rs370260574
NM_001303.4(COX10):c.929-7C>T rs62052075
NM_001303.4(COX10):c.981C>T (p.Asn327=) rs146175179
NM_001318836.2(BCS1L):c.-40-161T>C rs886055627
NM_001318836.2(BCS1L):c.-40-218C>T rs142540289
NM_001318836.2(BCS1L):c.-40-307C>G rs886055626
NM_001322019.1(NDUFA10):c.-87A>C rs886055827
NM_001322019.1(NDUFA10):c.-92C>T rs559797625
NM_001322019.1(NDUFA10):c.-93G>T rs577432343
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.-22C>A rs144843461
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002496.3(NDUFS8):c.-76C>T rs544094420
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_002496.4(NDUFS8):c.*26T>G rs886048592
NM_002496.4(NDUFS8):c.*40A>G rs61329983
NM_002496.4(NDUFS8):c.*44C>T rs201815115
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259
NM_002496.4(NDUFS8):c.199+5G>A rs373522607
NM_002496.4(NDUFS8):c.200-14C>T rs373128833
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273
NM_002496.4(NDUFS8):c.501+12C>G rs372004236
NM_002496.4(NDUFS8):c.502-10C>T rs369961682
NM_002496.4(NDUFS8):c.502-13C>T rs199793417
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) rs1804688
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882
NM_003172.4(SURF1):c.352A>T (p.Arg118Trp) rs201492662
NM_003172.4(SURF1):c.366C>T (p.Val122=) rs886063630
NM_003172.4(SURF1):c.54+10G>A rs587598397
NM_003172.4(SURF1):c.54+9C>G rs587675928
NM_003172.4(SURF1):c.643C>G (p.Pro215Ala) rs147165855
NM_004168.4(SDHA):c.*133G>C rs193112615
NM_004168.4(SDHA):c.*189C>T rs185107377
NM_004168.4(SDHA):c.*75A>G rs886060517
NM_004168.4(SDHA):c.-1C>T rs560932680
NM_004168.4(SDHA):c.1092C>T (p.Val364=) rs886060515
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646
NM_004168.4(SDHA):c.1580G>A (p.Arg527His) rs766352407
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619
NM_004168.4(SDHA):c.269T>C (p.Val90Ala) rs886060514
NM_004168.4(SDHA):c.441C>T (p.Pro147=) rs201453889
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) rs375576259
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004376.6(COX15):c.784C>T (p.Arg262Ter) rs774366079
NM_004544.4(NDUFA10):c.*1011A>G rs575477219
NM_004544.4(NDUFA10):c.*105G>A rs886055825
NM_004544.4(NDUFA10):c.*1129G>A rs886055822
NM_004544.4(NDUFA10):c.*1212T>C rs886055821
NM_004544.4(NDUFA10):c.*1214C>T rs546735567
NM_004544.4(NDUFA10):c.*1262C>T rs759194775
NM_004544.4(NDUFA10):c.*1884G>C rs886055820
NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG rs886055819
NM_004544.4(NDUFA10):c.*1915G>A rs144590599
NM_004544.4(NDUFA10):c.*2042A>C rs886055818
NM_004544.4(NDUFA10):c.*2111G>A rs752139055
NM_004544.4(NDUFA10):c.*2149C>T rs570872300
NM_004544.4(NDUFA10):c.*2192T>A rs886055817
NM_004544.4(NDUFA10):c.*2297T>G rs773090030
NM_004544.4(NDUFA10):c.*2397A>G rs886055816
NM_004544.4(NDUFA10):c.*2495C>T rs78395168
NM_004544.4(NDUFA10):c.*2649G>A rs886055815
NM_004544.4(NDUFA10):c.*2685C>A rs114807372
NM_004544.4(NDUFA10):c.*2997G>A rs886055814
NM_004544.4(NDUFA10):c.*3067C>T rs564992184
NM_004544.4(NDUFA10):c.*3075T>G rs7588974
NM_004544.4(NDUFA10):c.*3098A>T rs886055813
NM_004544.4(NDUFA10):c.*3113G>A rs886055812
NM_004544.4(NDUFA10):c.*3141C>T rs144864637
NM_004544.4(NDUFA10):c.*3205G>A rs886055811
NM_004544.4(NDUFA10):c.*3349G>A rs77216981
NM_004544.4(NDUFA10):c.*3408T>C rs886055810
NM_004544.4(NDUFA10):c.*3557G>A rs149933652
NM_004544.4(NDUFA10):c.*361A>G rs778261754
NM_004544.4(NDUFA10):c.*389C>T rs539829771
NM_004544.4(NDUFA10):c.*412A>G rs546052985
NM_004544.4(NDUFA10):c.*489A>G rs886055824
NM_004544.4(NDUFA10):c.*546G>A rs192485848
NM_004544.4(NDUFA10):c.*647C>T rs116254382
NM_004544.4(NDUFA10):c.*740C>T rs886055823
NM_004544.4(NDUFA10):c.*925C>G rs149563558
NM_004544.4(NDUFA10):c.-36C>T rs886055826
NM_004544.4(NDUFA10):c.1000-3C>G rs199648872
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=) rs770747594
NM_004544.4(NDUFA10):c.548-9A>G rs147876332
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) rs149783296
NM_004544.4(NDUFA10):c.749+11C>T rs200760509
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys) rs762669820
NM_004551.2(NDUFS3):c.-30C>T rs375483884
NM_004551.2(NDUFS3):c.-41T>C rs750965789
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) rs886048391
NM_004551.3(NDUFS3):c.381+5G>T rs886048392
NM_004551.3(NDUFS3):c.381+6T>C rs377579231
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180
NM_004551.3(NDUFS3):c.628-7C>T rs11039306
NM_004551.3(NDUFS3):c.657G>A (p.Val219=) rs377323760
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) rs117981655
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) rs770306617
NM_004589.3(SCO1):c.-49C>T rs778522503
NM_004589.3(SCO1):c.-52delA rs566330071
NM_004589.4(SCO1):c.*127A>G rs779082082
NM_004589.4(SCO1):c.*285C>T rs886052593
NM_004589.4(SCO1):c.*349C>G rs151279533
NM_004589.4(SCO1):c.*403A>G rs886052592
NM_004589.4(SCO1):c.*594A>G rs183020275
NM_004589.4(SCO1):c.*601del rs886052591
NM_004589.4(SCO1):c.*61A>C rs886052594
NM_004589.4(SCO1):c.15C>T (p.Val5=) rs780334801
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004589.4(SCO1):c.224C>T (p.Pro75Leu) rs370147170
NM_004589.4(SCO1):c.259C>T (p.Pro87Ser) rs757958481
NM_004589.4(SCO1):c.273G>A (p.Gly91=) rs886052596
NM_004589.4(SCO1):c.304T>G (p.Phe102Val) rs539094737
NM_004589.4(SCO1):c.640G>A (p.Ala214Thr) rs145764824
NM_004589.4(SCO1):c.673G>A (p.Val225Ile) rs886052595
NM_004589.4(SCO1):c.689C>T (p.Thr230Met) rs141066877
NM_004589.4(SCO1):c.787A>G (p.Ile263Val) rs111708860
NM_004589.4(SCO1):c.868A>G (p.Ile290Val) rs139771078
NM_005006.7(NDUFS1):c.*151T>C rs533179154
NM_005006.7(NDUFS1):c.*158T>C rs3770989
NM_005006.7(NDUFS1):c.*27C>T rs369746514
NM_005006.7(NDUFS1):c.*399G>A rs77000728
NM_005006.7(NDUFS1):c.*438C>T rs561980718
NM_005006.7(NDUFS1):c.*504G>A rs548641207
NM_005006.7(NDUFS1):c.*561T>C rs146538309
NM_005006.7(NDUFS1):c.*641A>G rs886055501
NM_005006.7(NDUFS1):c.*756A>T rs755460274
NM_005006.7(NDUFS1):c.*846dup rs58253838
NM_005006.7(NDUFS1):c.*866A>C rs749790811
NM_005006.7(NDUFS1):c.*93dup rs200446477
NM_005006.7(NDUFS1):c.*966A>G rs755776989
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.7(NDUFS1):c.1393-7del rs760292289
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964
NM_005006.7(NDUFS1):c.262-15del rs34184317
NM_005006.7(NDUFS1):c.262-25dup rs34184317
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275
NM_005006.7(NDUFS1):c.421-7A>G rs192949406
NM_007103.3(NDUFV1):c.-111T>C rs563140258
NM_007103.4(NDUFV1):c.*14C>T rs886048590
NM_007103.4(NDUFV1):c.*79C>T rs76839099
NM_007103.4(NDUFV1):c.-34T>A rs886048586
NM_007103.4(NDUFV1):c.-45T>G rs373940385
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) rs371426372
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) rs376958800
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639
NM_007103.4(NDUFV1):c.1309-9C>T rs374581520
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) rs768582587
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) rs199543483
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.4(NDUFV1):c.326+12G>A rs184136353
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) rs886048589
NM_007103.4(NDUFV1):c.72+15G>T rs187400726
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374
NM_007103.4(NDUFV1):c.843T>C (p.His281=) rs766555879
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_024407.5(NDUFS7):c.*3_*5CCG[4] rs3065757
NM_024407.5(NDUFS7):c.*3_*5CCG[5] rs3065757
NM_024407.5(NDUFS7):c.*8G>A rs756081375
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) rs201222388
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) rs375120743
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) rs368174338
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) rs144570086
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) rs775856806
NM_133259.4(LRPPRC):c.*1121G>T rs371325663
NM_133259.4(LRPPRC):c.*1152C>G rs562361644
NM_133259.4(LRPPRC):c.*1343G>C rs75002669
NM_133259.4(LRPPRC):c.*1371C>T rs111381413
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.*1563C>T rs186518252
NM_133259.4(LRPPRC):c.*1564G>A rs142436911
NM_133259.4(LRPPRC):c.*1584G>A rs372330583
NM_133259.4(LRPPRC):c.*1587C>T rs886056046
NM_133259.4(LRPPRC):c.*1653G>A rs886056045
NM_133259.4(LRPPRC):c.*1653G>T rs886056045
NM_133259.4(LRPPRC):c.*1665C>G rs1139250
NM_133259.4(LRPPRC):c.*1806A>C rs886056044
NM_133259.4(LRPPRC):c.*1816T>C rs886056043
NM_133259.4(LRPPRC):c.*1872C>T rs147686285
NM_133259.4(LRPPRC):c.*1895G>T rs886056042
NM_133259.4(LRPPRC):c.*1911G>A rs533572540
NM_133259.4(LRPPRC):c.*1961T>C rs541683193
NM_133259.4(LRPPRC):c.*1981A>T rs180886841
NM_133259.4(LRPPRC):c.*2041C>A rs7581308
NM_133259.4(LRPPRC):c.*2041C>T rs7581308
NM_133259.4(LRPPRC):c.*2048dup rs546907287
NM_133259.4(LRPPRC):c.*2099C>A rs771863074
NM_133259.4(LRPPRC):c.*2245A>G rs758080975
NM_133259.4(LRPPRC):c.*2277A>G rs886056041
NM_133259.4(LRPPRC):c.*2376C>G rs886056040
NM_133259.4(LRPPRC):c.*343C>T rs144519599
NM_133259.4(LRPPRC):c.*399G>A rs149268737
NM_133259.4(LRPPRC):c.*409C>G rs187382374
NM_133259.4(LRPPRC):c.*456G>C rs886056052
NM_133259.4(LRPPRC):c.*485C>T rs886056051
NM_133259.4(LRPPRC):c.*534G>T rs553327890
NM_133259.4(LRPPRC):c.*577G>T rs183378286
NM_133259.4(LRPPRC):c.*590C>T rs886056050
NM_133259.4(LRPPRC):c.*647G>C rs886056049
NM_133259.4(LRPPRC):c.*667C>T rs533028399
NM_133259.4(LRPPRC):c.-11A>G rs188424940
NM_133259.4(LRPPRC):c.-19C>G rs574328970
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063
NM_133259.4(LRPPRC):c.1156-13dup rs747766605
NM_133259.4(LRPPRC):c.1262-12T>C rs149449510
NM_133259.4(LRPPRC):c.1300G>A (p.Gly434Ser) rs760756132
NM_133259.4(LRPPRC):c.1305T>C (p.Phe435=) rs886056059
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly) rs886056062
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.1369+5G>A rs199628926
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.1583-14A>G rs372371276
NM_133259.4(LRPPRC):c.1674C>T (p.Ser558=) rs376787135
NM_133259.4(LRPPRC):c.1677+7C>T rs374995996
NM_133259.4(LRPPRC):c.1762T>G (p.Leu588Val) rs775978547
NM_133259.4(LRPPRC):c.179C>T (p.Ala60Val) rs546399905
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys) rs762224854
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) rs118188415
NM_133259.4(LRPPRC):c.2216G>A (p.Arg739His) rs187274438
NM_133259.4(LRPPRC):c.2228C>T (p.Ser743Phe) rs779873239
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056
NM_133259.4(LRPPRC):c.2680C>T (p.Leu894Phe) rs886056055
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys) rs199706677
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133259.4(LRPPRC):c.3364+6T>A rs543620356
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys) rs760016065
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr) rs142097048
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502
NM_133259.4(LRPPRC):c.3737A>G (p.Asn1246Ser) rs886056054
NM_133259.4(LRPPRC):c.3901-6T>G rs553466522
NM_133259.4(LRPPRC):c.4156C>G (p.Leu1386Val) rs886056053
NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala) rs139493671
NM_133259.4(LRPPRC):c.441T>C (p.His147=) rs886056060
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399
NM_133259.4(LRPPRC):c.70C>G (p.Leu24Val) rs749629864
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) rs780400922
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742
NM_133259.4(LRPPRC):c.843C>T (p.Gly281=) rs766703715
NM_133259.4(LRPPRC):c.8C>T (p.Ala3Val) rs886056065
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.4(NDUFAF2):c.-63G>T rs886060724
NM_174889.4(NDUFAF2):c.-66G>C rs376045901
NM_174889.5(NDUFAF2):c.-23_-22GC[3] rs886060725
NM_174889.5(NDUFAF2):c.128-14C>G rs537327206
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) rs769579395
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068

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