ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_003494.3(DYSF):c.1053+1G>A rs398123763
NM_003494.3(DYSF):c.2974T>C (p.Trp992Arg) rs750028300
NM_003494.3(DYSF):c.3137G>A (p.Arg1046His) rs121908958
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]

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