ClinVar Miner

Variants studied for Mitochondrial disease

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
127 79 76 6 20 11 306

Gene and significance breakdown #

Total genes and gene combinations: 87
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POLG, POLGARF 7 6 11 0 7 10 36
MT-ATP6 5 5 7 0 3 0 19
MT-ND5 3 5 4 1 1 0 14
MT-ND1 2 4 5 0 0 0 11
MT-ND6 4 6 1 0 0 0 10
MT-CYB 0 1 7 0 1 0 9
MT-TL1 2 6 1 0 0 0 9
MT-TL2 3 2 3 0 1 0 9
RMND1 9 0 0 0 0 0 9
TWNK 7 2 0 0 0 0 9
MT-CO1 0 2 3 1 1 0 7
MT-TI 1 2 4 0 0 0 7
MT-ND3 3 0 2 1 0 0 6
MT-TS1 1 3 1 0 1 0 6
NDUFA6 6 0 0 0 0 0 6
MT-ND2 0 0 3 1 1 0 5
MT-TE 4 2 1 0 0 0 5
MT-TF 4 1 1 0 0 0 5
MT-TK 1 3 1 0 0 0 5
DNM1L 0 4 0 0 0 0 4
FANCI, POLG, POLGARF 0 0 3 0 1 0 4
MT-TN 1 3 0 0 0 0 4
MT-TR 3 0 1 0 0 0 4
MT-TS2 0 1 2 0 1 0 4
MT-TV 0 1 3 0 0 0 4
OPA1 4 0 0 0 0 0 4
COQ8A 0 3 0 0 0 0 3
GFM2 3 0 0 0 0 0 3
MT-CO2 1 0 2 0 0 0 3
MT-ND4 1 2 0 0 0 0 3
MT-TA 3 1 1 0 0 0 3
MT-TW 0 1 2 0 0 0 3
MECR 0 2 0 0 0 0 2
MT-ATP6, MT-ATP8 0 1 0 0 1 0 2
MT-ATP6, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 2 0 0 0 0 0 2
MT-CO1, MT-TS1 1 0 0 1 0 0 2
MT-CO3 0 1 0 0 0 1 2
MT-TG 0 0 1 0 1 0 2
MT-TH 1 2 0 0 0 0 2
MT-TP 1 1 0 0 0 0 2
NDUFAF8 1 1 0 0 0 0 2
NDUFC2, NDUFC2-KCTD14 2 0 0 0 0 0 2
OXA1L 2 0 0 0 0 0 2
SLC25A4 2 0 0 0 0 0 2
SPG7 2 0 0 0 0 0 2
SURF1 2 0 0 0 0 0 2
TMEM126B 2 0 0 0 0 0 2
TOP3A 2 0 0 0 0 0 2
TRMT10C 2 0 0 0 0 0 2
YARS2 2 0 0 0 0 0 2
ACO2 0 0 1 0 0 0 1
ATP5F1A 0 0 1 0 0 0 1
ATP5F1D 1 0 0 0 0 0 1
COX20 0 0 1 0 0 0 1
EME2, LOC130058183, MRPS34 0 0 1 0 0 0 1
GFER 1 0 0 0 0 0 1
GFER, LOC130058203 1 0 0 0 0 0 1
HIBCH 0 0 1 0 0 0 1
LOC126806913, OPA1 1 0 0 0 0 0 1
LOC130000896, RRM2B 1 0 0 0 0 0 1
LOC130061928, LOC130061929, NDUFAF8 1 0 0 0 0 0 1
LOC130061928, NDUFAF8 1 0 0 0 0 0 1
MRPL39 0 1 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TD, MT-TE, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2 1 0 0 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 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TD, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2 1 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TD, MT-TG, MT-TK, MT-TR, MT-TS1 1 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TG, MT-TK, MT-TR 1 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 1
MT-ATP6, MT-CO3 0 1 0 0 0 0 1
MT-ATP6, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TE, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 1
MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TE, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 1
MT-CYB, MT-ND4, MT-ND5, MT-ND6, MT-TE, MT-TH, MT-TL2, MT-TS2 1 0 0 0 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 0 0 1
MT-ND4, MT-ND5, MT-ND6, MT-TH, MT-TL2, MT-TS2 1 0 0 0 0 0 1
MT-ND4L 0 1 0 0 0 0 1
MT-RNR1, MT-TS1 0 1 0 0 0 0 1
MT-TC 0 0 0 1 0 0 1
MT-TD 1 0 0 0 0 0 1
MT-TM 0 1 0 0 0 0 1
MT-TQ 0 0 1 0 0 0 1
MT-TT 1 0 0 0 0 0 1
NARS2 1 0 0 0 0 0 1
PIGY, PYURF 1 0 0 0 0 0 1
RRM2B 1 0 0 0 0 0 1
TTC19 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 22 62 62 6 20 0 172
Wellcome Centre for Mitochondrial Research, Newcastle University 88 8 0 0 0 0 96
Illumina Laboratory Services, Illumina 6 7 9 0 0 0 22
Mendelics 16 0 0 0 0 0 16
GeneReviews 0 0 0 0 0 10 10
Medical Genetics, CHU Nice 4 2 1 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
New York Genome Center 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Medical Genetics, Nice Hospital - IRCAN 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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