ClinVar Miner

List of variants reported as pathogenic for Limb-girdle muscular dystrophy, type 2A by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea

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Total variants: 2
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NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter) rs1555421523
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803

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