ClinVar Miner

List of variants reported as likely pathogenic for Qualitative or quantitative defects of dysferlin by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039

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