ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial complex I deficiency by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 376
Download table as spreadsheet
HGVS dbSNP
NM_001166159.1(NDUFS2):c.*330_*331GT[14] rs10629771
NM_001166159.1(NDUFS2):c.*330_*331GT[16] rs10629771
NM_001166159.1(NDUFS2):c.*330_*331GT[18] rs10629771
NM_001193375.2(NDUFA11):c.-31G>A rs886054648
NM_001193375.2(NDUFA11):c.-51T>G rs886054649
NM_001193375.2(NDUFA11):c.138G>A (p.Pro46=) rs138889960
NM_001193375.2(NDUFA11):c.233C>T (p.Ala78Val) rs886054647
NM_001193375.2(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745
NM_001193375.2(NDUFA11):c.314-1384dup rs755637853
NM_001193375.2(NDUFA11):c.314-1393C>G rs191571307
NM_001193375.2(NDUFA11):c.314-1397G>C rs771648754
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_002488.4(NDUFA2):c.-145T>A rs886060017
NM_002488.4(NDUFA2):c.-50G>A rs143857164
NM_002488.4(NDUFA2):c.-51C>A rs886060016
NM_002488.4(NDUFA2):c.-53A>G rs747127939
NM_002488.4(NDUFA2):c.-63G>A rs748460855
NM_002488.4(NDUFA2):c.135G>A (p.Lys45=) rs745399748
NM_002488.4(NDUFA2):c.177C>T (p.Ser59=) rs200255683
NM_002488.4(NDUFA2):c.191A>G (p.Lys64Arg) rs79526416
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_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_004550.4(NDUFS2):c.*108A>T rs191955041
NM_004550.4(NDUFS2):c.*108_*109dup rs886045468
NM_004550.4(NDUFS2):c.*187G>A rs886045469
NM_004550.4(NDUFS2):c.*71_*76delinsTGCGTCTGTGTGTG rs886045465
NM_004550.4(NDUFS2):c.-156G>A rs886045457
NM_004550.4(NDUFS2):c.-159C>A rs886045456
NM_004550.4(NDUFS2):c.-20C>T rs201554004
NM_004550.4(NDUFS2):c.-218G>A rs563669084
NM_004550.4(NDUFS2):c.-28C>T rs886045458
NM_004550.4(NDUFS2):c.-298C>G rs41270845
NM_004550.4(NDUFS2):c.-346G>A rs189165754
NM_004550.4(NDUFS2):c.-388G>A rs3813623
NM_004550.4(NDUFS2):c.1212+7A>G rs36233987
NM_004550.4(NDUFS2):c.1213-9del rs750838845
NM_004550.4(NDUFS2):c.1215A>G (p.Gly405=) rs886045464
NM_004550.4(NDUFS2):c.1354+10C>A rs201275792
NM_004550.4(NDUFS2):c.1354+5G>A rs190184430
NM_004550.4(NDUFS2):c.162A>G (p.Pro54=) rs569128565
NM_004550.4(NDUFS2):c.337A>G (p.Ile113Val) rs754241926
NM_004550.4(NDUFS2):c.441C>T (p.Asn147=) rs140324736
NM_004550.4(NDUFS2):c.495_496del (p.Arg166fs) rs1558084765
NM_004550.4(NDUFS2):c.514+11C>T rs76309459
NM_004550.4(NDUFS2):c.515-3C>A rs149789018
NM_004550.4(NDUFS2):c.628-12C>T rs202121443
NM_004550.4(NDUFS2):c.702+14_702+17dup rs776704187
NM_004550.4(NDUFS2):c.867T>C (p.Ser289=) rs886045461
NM_004550.4(NDUFS2):c.903C>T (p.Asp301=) rs886045462
NM_004550.4(NDUFS2):c.95+14C>T rs751472475
NM_004550.4(NDUFS2):c.959T>C (p.Val320Ala) rs144937332
NM_004550.4(NDUFS2):c.986+12A>G rs11265565
NM_004550.4(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459
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_004553.4(NDUFS6):c.-12C>T rs145747389
NM_004553.5(NDUFS6):c.*15C>T rs200445799
NM_004553.5(NDUFS6):c.*27A>G rs370587409
NM_004553.5(NDUFS6):c.155G>C (p.Arg52Thr) rs768060274
NM_004553.5(NDUFS6):c.198C>T (p.Asn66=) rs140887831
NM_004553.5(NDUFS6):c.24C>T (p.Cys8=) rs886060511
NM_004553.5(NDUFS6):c.27G>C (p.Arg9=) rs886060512
NM_004553.5(NDUFS6):c.369C>T (p.His123=) rs745565855
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_014165.4(NDUFAF4):c.*1008T>C rs886061827
NM_014165.4(NDUFAF4):c.*1053A>G rs74905648
NM_014165.4(NDUFAF4):c.*1062T>G rs76370016
NM_014165.4(NDUFAF4):c.*1121A>G rs886061826
NM_014165.4(NDUFAF4):c.*1154A>G rs886061825
NM_014165.4(NDUFAF4):c.*1203A>G rs190331411
NM_014165.4(NDUFAF4):c.*1362C>T rs545168471
NM_014165.4(NDUFAF4):c.*1363G>A rs184678986
NM_014165.4(NDUFAF4):c.*1375G>T rs138003168
NM_014165.4(NDUFAF4):c.*1447T>C rs116939090
NM_014165.4(NDUFAF4):c.*1481T>C rs772264922
NM_014165.4(NDUFAF4):c.*1487A>G rs748437516
NM_014165.4(NDUFAF4):c.*1642T>G rs150444958
NM_014165.4(NDUFAF4):c.*1671T>C rs182040819
NM_014165.4(NDUFAF4):c.*1727T>C rs886061824
NM_014165.4(NDUFAF4):c.*1748T>C rs886061823
NM_014165.4(NDUFAF4):c.*289C>G rs143895125
NM_014165.4(NDUFAF4):c.*294T>G rs555318888
NM_014165.4(NDUFAF4):c.*350A>C rs41288598
NM_014165.4(NDUFAF4):c.*387C>T rs41288596
NM_014165.4(NDUFAF4):c.*459A>G rs560563894
NM_014165.4(NDUFAF4):c.*612A>G rs886061828
NM_014165.4(NDUFAF4):c.*690G>A rs181915821
NM_014165.4(NDUFAF4):c.*986A>C rs192839240
NM_014165.4(NDUFAF4):c.-24C>G rs886061830
NM_014165.4(NDUFAF4):c.-32del rs886061831
NM_014165.4(NDUFAF4):c.-33G>T rs886061832
NM_014165.4(NDUFAF4):c.-40C>T rs749427985
NM_014165.4(NDUFAF4):c.-49C>T rs372635399
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) rs78567928
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) rs886061829
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378
NM_016013.4(NDUFAF1):c.-137C>T rs369431865
NM_016013.4(NDUFAF1):c.-140C>T rs886051144
NM_016013.4(NDUFAF1):c.-180C>T rs886051145
NM_016013.4(NDUFAF1):c.-205G>C rs190265352
NM_016013.4(NDUFAF1):c.-293C>T rs760649120
NM_016013.4(NDUFAF1):c.-312T>G rs886051146
NM_016013.4(NDUFAF1):c.-352C>T rs532681188
NM_016013.4(NDUFAF1):c.-379C>T rs146883891
NM_016013.4(NDUFAF1):c.-6T>G rs180730324
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala) rs151286131
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly) rs886051143
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) rs372385045
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser) rs148982578
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn) rs866015009
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315
NM_017547.3(FOXRED1):c.-163G>C rs552937899
NM_017547.4(FOXRED1):c.*159C>T rs570233921
NM_017547.4(FOXRED1):c.*190T>C rs77902129
NM_017547.4(FOXRED1):c.*392G>A rs886047983
NM_017547.4(FOXRED1):c.*432T>G rs185024577
NM_017547.4(FOXRED1):c.*85T>C rs372575072
NM_017547.4(FOXRED1):c.-31A>G rs368307265
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017547.4(FOXRED1):c.10A>G (p.Arg4Gly) rs149883459
NM_017547.4(FOXRED1):c.1138C>G (p.His380Asp) rs751634994
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe) rs767749700
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044
NM_017547.4(FOXRED1):c.192G>A (p.Ser64=) rs749675822
NM_017547.4(FOXRED1):c.296G>A (p.Arg99Gln) rs768102112
NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met) rs77785510
NM_017547.4(FOXRED1):c.35G>C (p.Arg12Pro) rs375454069
NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile) rs34542988
NM_017547.4(FOXRED1):c.435C>T (p.Val145=) rs147235743
NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp) rs191604046
NM_017547.4(FOXRED1):c.658C>T (p.Pro220Ser) rs753106152
NM_017547.4(FOXRED1):c.662G>T (p.Trp221Leu) rs755831680
NM_017547.4(FOXRED1):c.833A>G (p.Glu278Gly) rs886047981
NM_017547.4(FOXRED1):c.857T>C (p.Ile286Thr) rs148955548
NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val) rs886047982
NM_017547.4(FOXRED1):c.921G>A (p.Gly307=) rs777315728
NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser) rs748195712
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_021074.4(NDUFV2):c.-83C>T rs540830035
NM_021074.4(NDUFV2):c.-94A>T rs552940397
NM_021074.4(NDUFV2):c.-98G>T rs886054123
NM_021074.5(NDUFV2):c.-30G>T rs139650842
NM_021074.5(NDUFV2):c.-39G>T rs748188888
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly) rs559485096
NM_021074.5(NDUFV2):c.301-10A>G rs756241126
NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr) rs886054124
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=) rs201074358
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=) rs143576401
NM_021074.5(NDUFV2):c.580-12T>A rs114558512
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_025152.2(NUBPL):c.-39G>A rs886050446
NM_025152.3(NUBPL):c.*1015C>A rs551958784
NM_025152.3(NUBPL):c.*1048G>A rs886050455
NM_025152.3(NUBPL):c.*1053G>A rs546991443
NM_025152.3(NUBPL):c.*1119_*1120insA rs886050456
NM_025152.3(NUBPL):c.*1121_*1123del rs886050458
NM_025152.3(NUBPL):c.*1121dup rs886050457
NM_025152.3(NUBPL):c.*1122_*1124del rs886050460
NM_025152.3(NUBPL):c.*1122dup rs886050459
NM_025152.3(NUBPL):c.*1144_*1147del rs34847511
NM_025152.3(NUBPL):c.*1145_*1148del rs886050463
NM_025152.3(NUBPL):c.*1146_*1148del rs886050464
NM_025152.3(NUBPL):c.*1147dup rs34847511
NM_025152.3(NUBPL):c.*1148del rs886050465
NM_025152.3(NUBPL):c.*1149_*1150insA rs886050466
NM_025152.3(NUBPL):c.*1151G>A rs550119169
NM_025152.3(NUBPL):c.*1155dup rs886050467
NM_025152.3(NUBPL):c.*1260T>C rs551289319
NM_025152.3(NUBPL):c.*135T>G rs377738028
NM_025152.3(NUBPL):c.*1609G>A rs142179743
NM_025152.3(NUBPL):c.*1619C>T rs886050468
NM_025152.3(NUBPL):c.*1773A>G rs886050469
NM_025152.3(NUBPL):c.*1776G>A rs886050470
NM_025152.3(NUBPL):c.*1840A>G rs886050471
NM_025152.3(NUBPL):c.*188T>C rs569141248
NM_025152.3(NUBPL):c.*2036A>C rs886050472
NM_025152.3(NUBPL):c.*355T>C rs886050452
NM_025152.3(NUBPL):c.*357C>G rs576520205
NM_025152.3(NUBPL):c.*527G>A rs560274677
NM_025152.3(NUBPL):c.*561G>A rs189555353
NM_025152.3(NUBPL):c.*638C>G rs886050454
NM_025152.3(NUBPL):c.*905A>C rs750277296
NM_025152.3(NUBPL):c.-13A>G rs754769393
NM_025152.3(NUBPL):c.-1C>T rs45468395
NM_025152.3(NUBPL):c.-25A>G rs749942385
NM_025152.3(NUBPL):c.-7C>T rs201073307
NM_025152.3(NUBPL):c.109-11A>T rs886050448
NM_025152.3(NUBPL):c.162C>T (p.Ser54=) rs34570972
NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu) rs771326763
NM_025152.3(NUBPL):c.285C>T (p.Asn95=) rs373232503
NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn) rs886050449
NM_025152.3(NUBPL):c.369G>A (p.Pro123=) rs755482148
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) rs143612760
NM_025152.3(NUBPL):c.384C>T (p.Ser128=) rs886050450
NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp) rs886050447
NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu) rs781341998
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.3(NUBPL):c.573G>A (p.Val191=) rs886050451
NM_025152.3(NUBPL):c.603A>C (p.Ile201=) rs543089711
NM_025152.3(NUBPL):c.639C>T (p.Ile213=) rs35330765
NM_025152.3(NUBPL):c.677G>A (p.Arg226His) rs79498789
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) rs35867418
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990
NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu) rs770850110
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
NM_175614.4(NDUFA11):c.-143C>G rs550697802
NM_175614.4(NDUFA11):c.-201_-200delCT rs759857076
NM_175614.4(NDUFA11):c.-210T>C rs886054650
NM_175614.4(NDUFA11):c.-234T>C rs115530541
NM_175614.4(NDUFA11):c.-300G>A rs563822139
NM_175614.4(NDUFA11):c.-83G>C rs562075121
NM_199069.2(NDUFAF3):c.*169G>C rs886058669
NM_199069.2(NDUFAF3):c.*194G>C rs78116829
NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=) rs770941671
NM_199069.2(NDUFAF3):c.338-12A>C rs774901107
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg) rs544277179
NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val) rs886058667
NM_199069.2(NDUFAF3):c.438+9C>T rs374825937
NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg) rs886058668
NM_199074.1(NDUFAF3):c.-94-319G>A rs886058666
NM_199074.1(NDUFAF3):c.-94-327G>C rs75749590
NM_199074.1(NDUFAF3):c.-94-328G>C rs74601553
NM_199074.1(NDUFAF3):c.-94-442C>T rs573066357
NM_199074.1(NDUFAF3):c.-94-450C>T rs886058665
NM_199074.1(NDUFAF3):c.-94-564C>G rs760652685
NM_199074.1(NDUFAF3):c.-94-570C>T rs886058664
NM_199074.1(NDUFAF3):c.-94-571A>G rs886058663
NM_199074.1(NDUFAF3):c.-94-690T>C rs886058662

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.