ClinVar Miner

Variants studied for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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
35 0 228 45 22 1 330

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
COX10 3 28 14 10 0 55
CPO, FASTKD2 0 42 5 0 0 47
COX15 0 40 1 1 0 42
FASTKD2 2 28 5 0 0 35
COX15, ENTPD7 0 21 3 2 0 26
SCO1 3 16 5 2 0 26
SCO2, TYMP 0 9 3 4 0 16
TACO1 0 11 0 0 0 11
COX15, CUTC 0 7 2 0 0 9
NCAPH2, SCO2 0 8 0 0 0 8
COX6B1 2 3 2 0 0 7
MT-CO2 5 1 0 0 0 6
COA8 4 2 0 0 0 5
LOC112529895, SCO1 0 4 1 0 0 5
NCAPH2, SCO2, TYMP 0 0 3 2 0 5
SCO2 0 5 0 0 0 5
MT-CO3 4 0 0 0 0 4
COX10, LOC105943586 0 1 1 1 0 3
COA3 2 0 0 0 0 2
COX20, HNRNPU 1 1 0 0 0 2
MT-CO1 2 0 0 0 0 2
PET100 2 0 0 0 0 2
COX14 1 0 0 0 0 1
COX8A 1 0 0 0 0 1
FASTKD2, MDH1B 0 1 0 0 0 1
MRPL44 0 0 0 0 1 1
MT-TL1 1 0 0 0 0 1
MT-TN 1 0 0 0 0 1
SURF1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 223 45 22 0 290
OMIM 33 0 0 0 0 33
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 1
Fulgent Genetics 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Bodamer Research Lab,Boston Children's Hospital 0 1 0 0 0 1
Department of Pathology and Genetics,University of Gothenburg 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1

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