ClinVar Miner

Variants from Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology

Location: China  Primary collection method: reference population
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
13 0 0 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic total
DYSF 13 13

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic total
not provided 11 11
Distal myopathy with anterior tibial onset 1 1
Miyoshi muscular dystrophy 1 1 1

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