ClinVar Miner

Variants studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
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Gene type:
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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
490 326 2020 1226 293 22 4197

Gene and significance breakdown #

Total genes and gene combinations: 105
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ELAC2 37 18 387 388 34 0 857
MTO1 45 18 318 243 10 0 625
CARS2 5 2 308 263 27 2 596
FARS2 39 18 115 99 11 0 267
GFM1 29 81 76 26 29 0 222
FARS2, LOC126859565 12 10 84 61 9 1 166
AARS2, POLR1C 13 8 101 11 38 1 165
MTRFR 13 2 75 40 8 1 132
TSFM 6 35 44 9 4 0 92
EARS2 16 6 39 6 11 3 75
CARS2, LOC130010127 1 0 45 24 2 0 71
TUFM 3 1 41 4 7 0 55
FASTKD2 5 6 26 13 4 0 53
VARS2 11 11 27 0 6 0 48
EARS2, GGA2 0 0 25 7 15 0 47
RMND1 11 5 23 7 4 1 47
PNPT1 14 13 12 1 6 1 43
AIFM1, RAB33A 7 3 15 7 11 1 40
NARS2 16 7 16 0 2 2 39
ATPAF2 1 0 28 1 8 0 37
GTPBP3 9 8 13 1 5 1 34
POLRMT 11 3 20 2 0 0 34
TARS2 12 21 14 1 1 0 33
MIPEP 7 7 14 1 2 0 30
MRPS22 6 3 20 2 1 0 30
MTFMT 10 4 7 0 1 1 21
GFM2 6 1 10 1 0 3 20
TRIT1 12 2 10 0 1 0 20
SFXN4 7 1 2 0 6 0 16
LOC130058735, TUFM 0 0 10 1 1 0 12
SLC25A26 4 2 3 0 4 0 12
DNAJC9, MRPS16 1 0 10 0 0 0 11
PRORP, PRORP-PSMA6 7 2 4 0 0 0 11
PTCD3 6 1 4 0 0 0 11
QRSL1 5 1 2 0 3 0 10
TRMT5 4 3 4 1 0 0 10
LOC126859646, VARS2 4 1 2 0 2 1 9
ATP5F1A 6 2 1 0 0 0 8
C2orf69 7 1 0 0 0 0 8
LOC101928525, MRPS2 3 2 5 0 0 0 8
MRPL44 5 2 1 1 0 1 8
AVIL, TSFM 0 0 2 0 4 0 6
C1QBP 6 0 0 0 0 0 6
FARS2, LYRM4 3 1 2 0 0 0 6
LOC112903839, MRPS22 0 0 6 0 0 0 6
MARS2 3 0 2 0 1 0 6
MRPL3 2 1 2 0 0 1 6
TAMM41 6 0 0 0 0 0 6
AIFM1, LOC130068679, RAB33A 0 0 2 1 3 0 5
ATPAF2, LOC130060411 0 0 3 1 1 0 5
FASTKD2, LOC126806484 3 0 2 0 0 0 5
GATB 2 0 2 0 1 0 5
MPHOSPH9, MTRFR 0 0 5 0 0 0 5
MRPL39 4 0 0 0 0 0 4
MRPS34 1 2 1 0 0 0 4
MT-ATP6 4 0 0 0 0 0 4
NSUN3 4 0 0 0 0 0 4
TXN2 1 0 1 1 1 0 4
ATP5MK 1 1 1 0 0 0 3
CRLS1 3 0 0 0 0 0 3
FARS2, LOC129995672, LYRM4 0 0 1 1 1 0 3
GGA3, MRPS7 0 0 0 0 3 0 3
MICOS13 3 0 0 0 0 0 3
MYCL, TRIT1 1 1 1 0 1 0 3
NFS1 1 0 3 0 0 0 3
TIMM22 2 0 1 0 1 0 3
TRMT10C 2 1 0 0 0 0 3
ATP5F1E, SLMO2-ATP5E 1 0 1 0 0 0 2
CARS2, NAXD 0 0 2 0 0 0 2
EARS2, LOC130058664 0 0 2 0 0 0 2
EME2, MRPS34 1 1 0 0 1 0 2
GATC, LOC112163529 1 0 1 0 0 0 2
LOC129996722, MTO1 0 0 2 0 0 0 2
LOC130006506, NARS2 1 1 1 0 0 0 2
LYRM4 1 0 1 0 0 0 2
MRPS2 0 0 2 0 0 0 2
MRPS23 1 1 1 0 0 0 2
MRPS7 1 1 2 0 0 0 2
TMEM70 1 0 1 0 0 0 2
AARS2 0 0 0 0 0 1 1
ATP5PO 1 0 0 0 0 0 1
ATP5PO, LOC126653351 1 0 0 0 0 0 1
ATP5PO, LOC130066573 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
EEF1A1, MTO1 0 0 0 0 1 0 1
EME2, LOC130058184, MRPS34 1 1 0 0 0 0 1
F13A1, FARS2, LYRM4, NRN1 1 0 0 0 0 0 1
F13A1, FARS2, NRN1 0 0 1 0 0 0 1
FARS2, LOC121099722, LOC126859565, LOC129995674, LOC129995675, LOC129995676, LOC129995677, LOC129995678 0 1 0 0 0 0 1
FARS2, LOC126859565, LOC129995678 1 0 0 0 0 0 1
FASTKD2, LOC129935479 0 0 0 1 0 0 1
GATB, LOC129993225 0 0 0 0 1 0 1
LOC110121048, LOC124174282, LOC124174283, LOC130000643, LOC130000644, MRPS28, TPD52-MRPS28 1 0 0 0 0 0 1
LOC129996910, QRSL1, RTN4IP1 0 0 1 0 0 0 1
LOC130006508, NARS2 0 0 1 0 0 0 1
LOC130009384, LOC130009385, MIPEP 0 1 0 0 0 0 1
LOC130009386, MIPEP 1 0 0 0 0 0 1
LOC130055775, TRMT5 0 0 1 0 0 0 1
LOC130058183, MRPS34 1 0 0 0 0 0 1
MIPEP, PCOTH 0 0 1 0 0 0 1
MRPL12 1 0 0 0 0 0 1
MRPS14 1 0 0 0 0 0 1
MRPS28, TPD52-MRPS28 1 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 116
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 125 31 1266 1104 87 0 2613
Illumina Laboratory Services, Illumina 0 2 369 49 114 0 534
Baylor Genetics 31 112 153 0 0 0 296
OMIM 269 0 0 0 0 0 269
Fulgent Genetics, Fulgent Genetics 7 13 64 49 6 0 139
Genome-Nilou Lab 0 1 5 2 102 0 110
Natera, Inc. 7 8 23 20 15 0 73
Revvity Omics, Revvity 9 10 48 1 0 0 68
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 1 13 19 10 11 0 54
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 22 20 0 0 0 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 18 0 0 0 0 37
Mendelics 11 6 3 1 8 0 29
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 6 13 1 0 0 29
3billion 4 8 14 0 0 0 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 5 8 1 2 0 22
Neuberg Centre For Genomic Medicine, NCGM 2 5 14 0 0 0 21
GenomeConnect, ClinGen 0 0 0 0 0 19 19
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 8 10 0 0 0 18
Houlden Lab, UCL Institute of Neurology 1 12 4 0 0 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 11 0 0 0 16
SIB Swiss Institute of Bioinformatics 4 6 6 0 0 0 16
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 15 1 0 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 9 0 11
Institute of Human Genetics, University of Leipzig Medical Center 3 3 5 0 0 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 3 4 0 0 0 10
New York Genome Center 0 2 7 0 0 0 9
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 7 0 0 0 0 8
Undiagnosed Diseases Network, NIH 2 2 4 0 0 0 8
MGZ Medical Genetics Center 3 2 2 0 0 0 7
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 5 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 3 2 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 2 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 2 0 0 0 5
Kids Research, The Children's Hospital at Westmead 4 1 0 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 2 2 0 0 0 5
DASA 2 3 0 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 3 1 0 0 0 0 4
Pediatric Department, Xiangya Hospital, Central South University 2 2 0 0 0 0 4
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 3 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 1 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 2 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 3
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 0 3 0 0 0 3
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 1 1 0 0 0 3
Suma Genomics 0 0 3 0 0 0 3
Newman Lab, University of Manchester 0 2 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 2 0 0 0 2
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 1 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 1 0 2
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 2 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Rare Diseases Genetics and Genomics, Islamia College Peshawar 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 1 0 1 0 0 0 2
Dept Of Pediatric Neurology, First Hospital Of Jilin University 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Department of Human Genetics, McGill University 1 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 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
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 0 1 0 0 0 0 1
Laboratory of Biochemistry, Assistance Publique Hopitaux de Paris - Bicetre Hospital 1 0 0 0 0 0 1

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