ClinVar Miner

Variants studied for mitochondrial complex deficiency

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
395 286 1685 299 221 10 2759

Gene and significance breakdown #

Total genes and gene combinations: 160
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TMEM70 19 6 154 86 23 0 279
NDUFA10 4 2 132 14 17 0 166
FASTKD2 2 1 127 11 10 0 151
NDUFS1 13 10 81 14 10 1 125
NUBPL 10 5 97 5 12 1 123
COX10 5 6 69 16 15 0 107
TTC19 11 5 71 7 6 0 98
NDUFAF5 8 42 23 9 6 1 78
BCS1L 21 19 30 6 4 0 74
NDUFS2 5 2 55 10 5 0 71
FOXRED1 8 7 53 2 2 0 68
NDUFV1 5 10 48 1 2 1 63
NDUFAF4 1 0 46 8 9 0 62
SCO1 4 3 40 8 3 1 56
SURF1 34 16 7 1 0 0 56
NDUFS6 5 16 21 5 5 0 50
NDUFAF1 4 0 33 4 6 0 44
UQCRQ 0 0 36 3 3 0 42
NDUFS4 9 17 12 1 4 1 41
NDUFS8 8 5 26 0 2 0 40
ATPAF2 1 0 29 1 8 0 38
TACO1 4 3 24 6 1 0 37
NDUFAF3 3 3 30 0 0 0 35
NDUFS3 4 4 30 0 2 0 33
COA8 6 6 11 8 2 0 31
NDUFS7 3 5 21 1 3 0 31
NDUFV2 2 3 20 2 3 0 29
NDUFAF6 12 6 8 2 3 0 27
NDUFAF2 5 2 17 2 2 0 26
LOC126861242, NDUFV1 5 7 17 1 0 0 25
LOC130065433, NDUFAF5 4 11 7 3 1 0 24
NDUFA11 0 0 21 0 1 0 22
NDUFA2, TMCO6 4 0 13 0 2 0 19
COX20 5 1 11 3 0 0 18
NDUFA9 3 3 11 0 2 0 18
TIMMDC1 3 5 9 0 1 0 18
LOC112529895, SCO1 0 0 13 2 1 1 15
NCAPH2, SCO2 0 0 15 0 0 0 15
COX6B1 2 1 7 4 1 0 14
LYRM7 7 3 5 0 0 0 14
ACAD9 5 7 1 0 0 0 13
LOC112552175, NDUFA11 1 1 8 1 2 0 13
PDZD9, UQCRC2 3 1 7 1 1 0 13
LOC129993885, NDUFS4 1 2 8 0 1 0 12
NDUFA12 9 2 2 0 0 0 12
LOC129935473, NDUFS1 0 0 9 0 1 0 10
LOC130060311, TTC19 1 1 7 0 1 0 10
TMEM126B 6 5 3 0 0 0 10
FASTKD2, LOC129935479 0 0 7 1 1 0 9
LOC126807509, UQCRQ 1 0 8 0 0 0 9
LOC130062145, NDUFV2 0 0 9 0 0 0 9
LOC130067862, SCO2, TYMP 0 0 6 1 2 0 9
PET100, STXBP2 3 1 4 2 0 0 9
COX10, LOC105943586 0 0 6 0 2 0 8
CYC1 2 0 2 1 3 0 8
LOC130000614, TMEM70 1 0 2 6 0 0 8
NDUFA6 6 0 1 0 1 0 8
UQCC2 3 0 2 2 1 0 8
COX11 4 0 3 0 0 0 7
COX4I2 1 0 4 1 1 0 7
GAMT, NDUFS7 0 0 0 7 1 0 7
LOC129931761, NDUFS2 0 0 4 1 2 0 7
MT-TS1 6 0 1 0 0 0 7
DNAJC30 4 1 1 0 0 0 6
ERCC8, NDUFAF2 1 1 1 1 2 0 6
LOC129996857, NDUFAF4 1 1 4 0 1 0 6
LOC130006217, NDUFV1 0 0 5 0 1 0 6
MT-CO2 5 0 1 0 0 0 6
NCAPH2, SCO2, TYMP 0 0 1 3 3 0 6
NDUFA8 2 1 3 0 0 0 6
NDUFB8 4 1 1 0 0 0 6
ATPAF2, LOC130060411 0 0 3 1 1 0 5
COX14 1 0 2 2 0 0 5
FOXRED1, LOC130007026 0 0 4 0 1 0 5
LOC129936729, NDUFAF3 2 0 3 0 0 0 5
MRPL36, NDUFS6 0 0 3 2 1 0 5
MT-CO3 4 0 1 0 0 0 5
NDUFB11 2 1 2 0 0 0 5
NDUFB9 2 0 1 2 0 0 5
SCO2, TYMP 0 0 3 2 0 0 5
TTC19, ZSWIM7 0 0 3 2 0 0 5
ATP5F1D 2 0 2 0 0 0 4
COA3 2 0 2 0 0 0 4
COX15, ENTPD7 0 0 3 0 1 0 4
LOC129936730, NDUFAF3 0 1 3 0 0 0 4
MTFMT 2 1 1 0 0 0 4
NDUFA13 1 1 2 0 0 0 4
NDUFB3 3 2 0 0 0 0 4
UQCRB 1 0 1 1 1 0 4
ACAD9, CFAP92 1 2 0 0 0 0 3
COX10, LOC130060303 1 0 1 1 0 0 3
COX15 0 0 3 0 0 0 3
COX20, LOC129932912 2 0 0 1 0 0 3
COX4I1 2 0 0 1 0 0 3
COX8A 1 0 1 1 0 0 3
COX8A, LOC130005904 0 0 0 2 1 0 3
LOC112081413, NDUFS8 0 0 2 1 0 0 3
LOC129936731, NDUFAF3 1 0 2 0 0 0 3
LOC130002899, SURF1 0 2 1 0 0 0 3
LOC130060312, TTC19 0 0 2 1 0 0 3
LOC130064074, NDUFA13 0 2 1 0 0 0 3
MT-ND3 3 1 0 0 0 0 3
NCOR1, TTC19 0 0 2 0 1 0 3
NDUFA4 2 1 0 0 0 0 3
SCO2 0 0 3 0 0 0 3
UQCRFS1 3 1 0 0 0 0 3
ATP5F1E, SLMO2-ATP5E 1 0 1 0 0 0 2
BCS1L, LOC129935609 0 0 2 0 0 0 2
COX20, HNRNPU 1 1 0 0 0 0 2
COX5A 2 0 0 0 0 0 2
COX6A2 2 2 0 0 0 0 2
COX6B1, LOC130064250 0 0 2 0 0 0 2
DNAJC30, LOC129998603 2 1 0 0 0 0 2
ELAC2 0 0 2 0 0 0 2
GDAP1, JPH1, LY96, TMEM70 0 0 2 0 0 0 2
LBHD1, UQCC3 1 0 0 0 1 0 2
LOC125371495, NDUFA13 2 1 0 0 0 0 2
LOC130060309, TTC19, ZSWIM7 0 0 2 0 0 0 2
LOC130061928, NDUFAF8 2 0 0 0 0 0 2
LOC130064118, UQCRFS1 0 0 0 0 2 0 2
LOC130067861, SCO2 0 0 2 0 0 0 2
LOC130067861, SCO2, TYMP 0 0 0 0 2 0 2
LOC130068621, NDUFA1 1 0 1 1 1 1 2
MT-CO1 2 0 0 0 0 0 2
MT-ND2 2 0 0 0 0 0 2
MT-TN 2 0 0 0 0 0 2
MTSS1, NDUFB9 0 0 0 0 2 0 2
NDUFA1 1 0 1 0 0 0 2
NDUFAF8 2 1 0 0 0 0 2
NDUFB7 1 0 1 0 0 0 2
NDUFC2, NDUFC2-KCTD14 2 0 0 0 0 0 2
NDUFS8, TCIRG1 0 0 1 2 1 0 2
SLC25A10 0 2 0 0 0 0 2
UQCRC2 0 0 2 0 0 0 2
AMACR, C1QTNF3-AMACR 0 0 1 0 0 0 1
AMN, BAG5, CDC42BPB, CKB, COA8, EIF5, EIF5-DT, EXOC3L4, LBHD2, LINC00605, LINC00677, LOC105378183, LOC112163684, LOC116268464, LOC121838600, LOC121838601, LOC125078042, LOC125078043, LOC126862063, LOC126862064, LOC126862065, LOC126862066, LOC126862067, LOC126862068, LOC130056529, LOC130056530, LOC130056531, LOC130056532, LOC130056533, LOC130056534, LOC130056535, LOC130056536, LOC130056537, LOC130056538, LOC130056539, LOC130056540, LOC130056541, LOC130056542, LOC130056543, LOC130056544, LOC130056545, LOC130056546, LOC130056547, LOC130056548, LOC130056549, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, LOC130056555, LOC130056556, LOC130056557, LOC130056558, LOC130056559, LOC130056560, LOC130056561, LOC130056562, LOC130056563, LOC130056564, LOC130056565, LOC130056566, LOC130056567, LOC130056568, LOC130056569, LOC130056570, LOC130056571, LOC130056572, LOC130056573, LOC130056574, LOC130056575, LOC130056576, LOC130056577, LOC130056578, LOC130056579, LOC130056580, LOC130056581, LOC130056582, LOC130056583, LOC130056584, LOC130056585, LOC130056586, LOC130056587, MARK3, RCOR1, SNORA28, TNFAIP2, TRAF3, TRMT61A 1 0 0 0 0 0 1
AP4S1, ARHGAP5, DTD2, GPR33, HEATR5A, HEATR5A-DT, HECTD1, LINC02313, LOC112267854, LOC121838588, LOC124995355, LOC124995356, LOC124995359, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC129390617, LOC129390618, LOC129390619, LOC130055443, LOC130055444, LOC130055445, LOC130055446, LOC130055447, LOC130055448, LOC130055449, LOC130055450, LOC130055451, LOC130055452, LOC130055453, LOC130055454, MIR624, NUBPL, NUBPL-DT, STRN3 0 0 1 0 0 0 1
ATP5F1A 1 0 0 0 0 0 1
ATPAF2, LOC130060409 1 0 1 0 0 0 1
ATPAF2, LOC130060410 0 1 0 0 0 0 1
COX10, COX10-DT 0 0 1 0 0 0 1
COX15, CUTC 0 0 1 0 0 0 1
COX16, SYNJ2BP-COX16 1 0 0 0 0 0 1
COX18 0 0 1 0 0 0 1
DTD2, GPR33, HEATR5A, NUBPL 1 0 0 0 0 0 1
FASTKD2, LOC126806484 0 0 1 0 0 0 1
KAT14, PET117 1 1 0 0 0 0 1
LOC113788297, NDUFAF6 0 0 0 1 0 0 1
LOC129390841, TTC19 1 0 0 0 0 0 1
LOC130060310, TTC19, ZSWIM7 0 0 1 0 0 0 1
LOC130061928, LOC130061929, NDUFAF8 1 0 0 0 0 0 1
LOC130065434, NDUFAF5 0 0 0 0 1 0 1
LY96, TMEM70 1 0 0 0 0 0 1
MRPL44 0 0 0 0 0 1 1
MT-ND4 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 1
NDUFAF7 0 0 0 0 0 1 1
NDUFB10 0 1 0 0 0 0 1
TCIRG1 0 0 0 1 0 0 1
UQCRH 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 118
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 6 5 1154 120 148 0 1430
OMIM 269 0 2 0 0 0 271
Labcorp Genetics (formerly Invitae), Labcorp 17 5 122 85 9 0 238
Baylor Genetics 36 86 118 0 0 0 237
Fulgent Genetics, Fulgent Genetics 19 24 101 62 9 0 214
Revvity Omics, Revvity 13 15 73 2 0 0 103
Genome-Nilou Lab 0 1 13 8 67 0 89
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 25 0 0 0 0 47
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 14 18 0 0 0 45
Neuberg Centre For Genomic Medicine, NCGM 9 12 19 0 0 0 40
Natera, Inc. 0 2 18 16 2 0 38
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 4 24 0 32
Mendelics 17 2 4 3 5 0 31
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 8 16 0 0 0 31
3billion 9 4 9 7 0 0 29
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 14 10 0 0 0 28
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 12 1 0 0 17
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 9 7 0 0 0 0 16
MGZ Medical Genetics Center 1 4 7 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 5 0 1 0 12
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 1 2 9 0 0 0 12
SIB Swiss Institute of Bioinformatics 1 8 1 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 10 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 3 2 0 0 0 9
Myriad Genetics, Inc. 0 7 2 0 0 0 9
New York Genome Center 1 1 7 0 0 0 9
Undiagnosed Diseases Network, NIH 4 1 3 0 0 0 8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 6 2 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 2 3 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 4 3 0 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 3 3 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 4 1 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 2 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 1 4 0 0 0 5
DASA 4 1 0 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 3 0 0 0 4
Counsyl 1 1 2 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 2 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 4 0 0 0 0 0 4
Lifecell International Pvt. Ltd 2 2 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 0 1 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 0 0 0 3
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 2 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Kids Research, The Children's Hospital at Westmead 2 1 0 0 0 0 3
Breda Genetics srl 0 0 3 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas 0 0 2 0 0 0 2
Computational Biology Unit, University of Bari 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 2 0 0 0 2
Zeviani Lab, University of Cambridge 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 2 0 0 0 0 2
Department of Pathophysiology and Transplantation, University of Milan 1 0 1 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 2 0 0 0 0 2
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 0 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 0 2 0 0 0 2
Intractable Disease Research Center, Juntendo University 0 0 2 0 0 0 2
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 1 1 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 1 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Laboratory for Study of Mitochondrial Disorders, Charles University, First Faculty of Medicine - General University Hospital in Prague 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 1 0 0 0 0 0 1
Wellcome Centre for Mitochondrial Research, Newcastle University 1 0 0 0 0 0 1
INSERM U1051, Institut des Neurosciences de Montpellier 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
Simons Lab, The University of Queensland 0 1 0 0 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 0 1
Bodamer Research Lab, Boston Children's Hospital 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Department of Pathology and Genetics, University of Gothenburg 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 1 0 0 0 1
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
Department of Genetics, University Medical Center Utrecht 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Neonatal Research Center, Shiraz University of Medical Science 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
King Saud Bin Abdulaziz University for Health Sciences 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1
Department of Pediatrics, Government Thiruvarur Medical College and Hospital 1 0 0 0 0 0 1

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