ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease axonal type 2U

Included ClinVar conditions (2):
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
4 1 379 226 30 637

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MARS1 4 1 358 213 29 602
ARHGAP9, MARS1 0 0 17 8 1 26
MARS1, MIR6758 0 0 2 5 0 7
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616 0 0 1 0 0 1
POLG, POLGARF 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 374 226 30 630
OMIM 2 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 2
Paris Brain Institute, Inserm - ICM 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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