ClinVar Miner

Variants from Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine

Location: United States — Primary collection method: clinical testing
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 total
103 90 426 168 71 857

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POLG 73 39 81 149 46 388
FBXL4 22 31 320 1 7 381
FARS2 2 15 20 10 11 57
FANCI, POLG 1 0 4 6 6 17
MPV17 5 3 1 0 0 9
MIR6766, POLG 0 0 0 2 1 3
FARS2, LOC101927950 0 1 0 0 0 1
FARS2, LYRM4 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Progressive sclerosing poliodystrophy 74 39 85 157 53 408
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 22 31 320 1 7 381
Combined oxidative phosphorylation deficiency 14 1 13 19 10 11 54
Navajo neurohepatopathy 5 3 1 0 0 9
Spastic paraplegia 77, autosomal recessive 1 4 1 0 0 6

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