ClinVar Miner

Variants studied for Leber's optic atrophy

Coded as:
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 risk factor not provided total
45 4 8 0 0 1 2 53

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor not provided total
MT-ND1 12 2 1 0 0 12
MT-ND6 10 0 0 1 1 11
MT-ND5 8 1 1 0 0 9
MT-ND4 4 0 1 0 1 5
MT-CYB 3 0 1 0 0 3
MT-ND2 2 0 1 0 0 3
MT-CO3 2 0 0 0 0 2
LCA5 0 0 1 0 0 1
MT-ATP6 1 0 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 1
MT-ND3 1 0 0 0 0 1
MT-ND4L 1 0 0 0 0 1
MT-TL1 0 0 1 0 0 1
NDUFS2 0 1 0 0 0 1
VCAN 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance risk factor not provided total
GeneReviews 33 0 3 0 0 36
OMIM 26 0 1 0 0 27
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 6 3 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 1 0 3
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 0 1 0 0 1

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