ClinVar Miner

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

Location: United States  Primary collection method: clinical testing
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Gene type:

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
290 163 1543 587 972 3554

Gene and significance breakdown #

Total genes and gene combinations: 57
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FBXL4 22 31 320 1 7 381
POLG 68 37 67 129 40 341
ACADVL 104 22 191 2 12 331
MT-ND5 5 4 113 48 104 274
MT-CYB 3 2 121 36 94 256
MT-ATP6 8 5 85 47 92 237
MT-ND2 1 2 61 42 51 157
MT-CO1 0 3 86 20 47 156
MT-CO3 1 0 69 29 40 139
MT-ND1 4 5 54 23 52 138
MT-ND4 2 1 52 20 38 113
MT-CO2 0 0 44 18 25 87
MT-ND6 2 2 34 16 33 87
MT-ATP8 0 0 22 7 28 57
MT-TT 1 0 6 10 36 53
POLG, POLGARF 5 2 14 19 9 49
MT-ND3 3 0 17 7 12 39
MT-TH 1 1 12 4 16 34
MT-TF 3 2 5 6 15 31
MT-TW 5 0 8 5 13 31
FARS2 0 7 10 7 5 29
MT-TC 0 0 6 4 19 29
MT-TL1 10 3 6 4 6 29
MT-TG 0 1 11 5 11 28
MT-TK 4 2 5 7 10 28
FARS2, LOC126859565 2 7 10 3 6 27
MT-TD 0 1 9 6 11 27
MT-ND4L 1 0 12 6 7 26
MT-TV 2 3 10 6 5 26
MT-ATP6, MT-ATP8 1 0 3 8 13 25
MT-TQ 0 1 4 4 16 25
MT-TS2 0 2 7 2 13 24
MT-TS1 4 0 5 3 10 22
MT-TI 1 3 5 2 10 21
MT-TL2 2 1 6 2 9 20
MT-TA 1 0 6 4 8 19
MT-TP 1 1 9 2 6 19
MT-TR 0 3 3 4 8 18
MT-TY 0 0 9 5 4 18
ACADVL, LOC130060113 7 0 8 0 2 17
MT-TE 2 2 2 2 9 17
FANCI, POLG 1 0 4 7 3 15
MT-TN 1 0 5 2 7 15
MT-TM 0 1 5 1 6 13
MPV17 5 3 1 0 0 9
MIR6766, POLG 0 0 0 2 1 3
ACADVL, DLG4 0 0 1 0 1 2
ACADVL, DVL2 2 0 0 0 0 2
MT-CO1, MT-TS1 1 0 0 0 1 2
FARS2, LOC101927950, LOC126859568, LOC129995681, LOC129995682 0 1 0 0 0 1
FARS2, LOC121099722, LOC126859565, LOC129995674, LOC129995675, LOC129995676, LOC129995677, LOC129995678 0 1 0 0 0 1
FARS2, LYRM4 0 1 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 1 0 0 0 0 1
MT-CO1, MT-TQ 0 0 0 0 1 1
MT-ND1, MT-TL1 1 0 0 0 0 1
MT-ND5, MT-ND6 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Leigh syndrome 15 10 772 327 637 1761
MELAS syndrome 45 30 144 90 249 558
Progressive sclerosing poliodystrophy 73 39 85 157 53 407
Mitochondrial DNA depletion syndrome 13 22 31 320 1 7 381
Very long chain acyl-CoA dehydrogenase deficiency 113 22 200 2 15 352
Combined oxidative phosphorylation defect type 14 1 13 19 10 11 54
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 4 8 1 0 0 13
Leber optic atrophy 6 3 0 0 0 9
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 5 3 1 0 0 9
Hereditary spastic paraplegia 77 1 4 1 0 0 6
NARP syndrome 3 0 0 0 0 3
Histiocytoid cardiomyopathy 1 0 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 1 0 0 0 0 1

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