ClinVar Miner

Variants studied for Leber hereditary optic neuropathy

Included ClinVar conditions (4):
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
45 0 7 0 0 2 50

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic uncertain significance not provided total
MT-ND1 12 1 0 12
MT-ND6 10 0 0 10
MT-ND5 7 1 0 7
MT-CYB 3 2 0 4
MT-ND4 3 1 1 4
MT-ND2 2 1 0 3
MT-ATP6 1 0 1 2
MT-CO3 2 0 0 2
MT-ND3 2 0 0 2
MT-CO1, MT-TS1 1 0 0 1
MT-ND4L 1 0 0 1
MT-TL1 0 1 0 1
NDUFS2 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance not provided total
GeneReviews 33 3 0 36
OMIM 30 1 0 31
Fulgent Genetics 1 2 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 0 2
GenomeConnect, ClinGen 0 0 2 2
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 1 0 1

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