ClinVar Miner

List of variants reported as pathogenic for Miyoshi muscular dystrophy 1 by Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830

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