ClinVar Miner

Variants studied for Combined oxidative phosphorylation deficiency

Coded as:
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 total
0 0 247 55 36 338

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination uncertain significance likely benign benign total
AARS2 53 12 12 77
EARS2 39 4 9 52
DNAJC9, MRPS16 40 10 0 50
GFM1 32 10 5 47
TUFM 28 3 3 34
TSFM 23 1 1 25
C12orf65 12 6 3 21
AIFM1, RAB33A 4 8 3 15
MRPS22 8 1 0 9
AVIL, TSFM 3 0 0 3
C12orf65, MPHOSPH9 2 0 0 2
COPB2, MRPS22 2 0 0 2
LOC112903839, MRPS22 1 0 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 247 55 36 338

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