ClinVar Miner

List of variants in gene DYSF reported as pathogenic for Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset

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Total variants: 5
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HGVS dbSNP
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_003494.3(DYSF):c.2643+1G>A rs140108514

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