ClinVar Miner

Variants from ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen

Location: United States  Primary collection method: curation
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
32 74 101 6 33 246

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POLG 2 4 6 0 7 19
MT-ATP6 3 5 7 0 3 18
ETHE1 5 0 4 0 8 17
MT-ND5 2 4 7 1 1 15
MT-TL1 1 8 4 0 0 13
MT-ND1 1 4 7 0 0 12
MT-ND6 2 7 3 0 0 12
MT-CYB 0 3 7 0 1 11
PDHA1 4 1 1 0 3 9
MT-CO1 0 2 3 1 1 7
MT-ND2 0 1 4 1 1 7
MT-TL2 0 2 4 0 1 7
MT-TS1 1 3 2 0 1 7
POLG, POLGARF 0 2 5 0 0 7
MT-TK 1 4 1 0 0 6
MT-CO2 1 1 3 0 0 5
MT-ND3 3 0 1 1 0 5
MT-TV 0 1 4 0 0 5
MT-TW 0 2 3 0 0 5
FANCI, POLG 0 0 3 0 1 4
MT-TE 0 2 2 0 0 4
MT-TF 0 1 3 0 0 4
MT-TG 0 0 3 0 1 4
MT-TI 0 1 3 0 0 4
MT-TN 1 2 1 0 0 4
MT-TS2 0 1 2 0 1 4
MT-TA 0 1 2 0 0 3
MT-TH 0 2 1 0 0 3
MT-TQ 0 0 2 0 1 3
MT-ATP6, MT-ATP8 0 1 0 0 1 2
MT-CO1, MT-TS1 1 0 0 1 0 2
MT-ND4 1 1 0 0 0 2
MT-TC 0 0 1 1 0 2
MT-TP 0 1 1 0 0 2
ETHE1, LOC130064595 0 0 0 0 1 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-CO3 0 1 0 0 0 1
MT-CO3 0 1 0 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 0 1
MT-ND1, MT-TL1 0 1 0 0 0 1
MT-ND4L 0 1 0 0 0 1
MT-ND5, MT-ND6 1 0 0 0 0 1
MT-RNR1, MT-TS1 0 1 0 0 0 1
MT-TM 0 1 0 0 0 1
MT-TR 0 0 1 0 0 1
MT-TT 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mitochondrial disease 23 73 96 6 21 219
Ethylmalonic encephalopathy 5 0 4 0 9 18
Pyruvate dehydrogenase complex deficiency 4 1 1 0 3 9

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