ClinVar Miner

List of variants reported as pathogenic for Qualitative or quantitative defects of dysferlin by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159 0.00003
NM_001130987.2(DYSF):c.1258del (p.Ala420fs) rs779969348

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