ClinVar Miner

Variants studied for Mitochondrial complex I deficiency, nuclear type 1

Coded as:
Minimum submission review status: Collection method:
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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
17 26 634 46 71 1 793

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NDUFA10 0 0 116 12 16 0 144
NUBPL 0 1 70 2 10 0 83
NDUFS1 1 1 47 10 5 0 64
NDUFAF4 0 0 44 7 7 0 58
FOXRED1 1 0 41 2 2 0 46
NDUFS2 0 0 35 2 3 0 40
NDUFS4 9 17 10 0 4 0 39
NDUFV1 0 1 34 0 2 0 37
NDUFAF1 0 0 27 4 4 0 35
NDUFAF3 1 0 27 0 0 0 28
NDUFS3 0 0 20 0 0 0 20
NDUFS8 0 0 18 0 1 0 19
LOC126861242, NDUFV1 2 2 13 1 0 0 17
NDUFS7 0 0 15 0 2 0 17
NDUFV2 0 0 11 1 2 0 14
NDUFA11 0 0 13 0 0 0 13
NDUFA2, TMCO6 0 0 11 0 2 0 13
NDUFAF2 0 1 10 2 0 0 13
LOC129993885, NDUFS4 1 2 8 0 1 0 12
NDUFS6 0 0 11 0 1 0 12
LOC112552175, NDUFA11 0 0 7 1 2 0 10
LOC129935473, NDUFS1 0 0 9 0 1 0 10
LOC130006217, NDUFV1 0 0 5 0 1 0 6
LOC130062145, NDUFV2 0 0 6 0 0 0 6
TIMMDC1 0 1 4 0 0 0 5
FOXRED1, LOC130007026 0 0 3 0 1 0 4
LOC129931761, NDUFS2 0 0 3 0 1 0 4
LOC129996857, NDUFAF4 0 0 3 0 0 0 3
LOC130065433, NDUFAF5 0 0 3 0 0 0 3
ERCC8, NDUFAF2 1 0 0 0 1 0 2
LOC129936729, NDUFAF3 0 0 2 0 0 0 2
LOC129936730, NDUFAF3 0 0 2 0 0 0 2
LOC129936731, NDUFAF3 0 0 2 0 0 0 2
MRPL36, NDUFS6 0 0 2 0 0 0 2
NDUFAF5 0 0 1 0 0 1 2
NDUFS8, TCIRG1 0 0 0 1 1 0 2
TMEM126B 1 0 1 0 0 0 2
GAMT, NDUFS7 0 0 0 0 1 0 1
LOC112081413, NDUFS8 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 597 46 70 0 714
Baylor Genetics 12 15 35 0 0 0 62
OMIM 7 0 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 1 2 4 0 0 0 7
Genome-Nilou Lab 0 0 0 0 4 0 4
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1

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