ClinVar Miner

Variants studied for MELAS syndrome

Included ClinVar conditions (3):
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
56 31 144 91 246 567

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MT-TT 1 0 6 10 36 53
MT-TH 1 1 12 4 15 33
MT-TF 3 2 5 6 15 31
MT-TW 5 0 8 5 13 31
MT-TL1 11 3 6 4 6 30
MT-TC 1 0 6 4 19 29
MT-TG 0 1 11 5 11 28
MT-TK 4 2 5 7 10 28
MT-TD 0 1 9 6 11 27
MT-TQ 1 1 4 4 17 27
MT-TV 2 3 10 6 5 26
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 5 3 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
MT-TE 2 2 2 2 9 17
MT-TN 1 0 5 2 7 15
MT-TM 0 1 5 1 6 13
MT-ND5 6 1 0 0 0 7
MT-ND1 5 1 0 0 0 6
MT-ND6 1 1 0 0 0 2
MT-ATP6 1 0 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 1
MT-CYB 0 0 1 0 0 1
MT-ND4 1 0 0 0 0 1
NDUFS1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 45 30 143 91 246 555
OMIM 15 0 0 0 0 15
Fulgent Genetics,Fulgent Genetics 2 0 1 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1

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