ClinVar Miner

List of variants in gene DYSF reported as likely benign for Limb-Girdle Muscular Dystrophy, Recessive

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Total variants: 15
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HGVS dbSNP
NM_003494.3(DYSF):c.*199T>G rs13429381
NM_003494.3(DYSF):c.1180+11C>T rs35982795
NM_003494.3(DYSF):c.1522+15C>G rs76402294
NM_003494.3(DYSF):c.1860C>T (p.Tyr620=) rs35721373
NM_003494.3(DYSF):c.2500A>G (p.Ile834Val) rs34671418
NM_003494.3(DYSF):c.3191_3196dupCGGAGG (p.Glu1065_Gly1066insAlaGlu) rs398123779
NM_003494.3(DYSF):c.393C>T (p.Pro131=) rs34603128
NM_003494.3(DYSF):c.4068C>T (p.Ser1356=) rs2303607
NM_003494.3(DYSF):c.565C>G (p.Leu189Val) rs13407355
NM_003494.3(DYSF):c.570T>C (p.Pro190=) rs35392229
NM_003494.3(DYSF):c.5859A>C (p.Pro1953=) rs17718530
NM_003494.3(DYSF):c.6204+15C>T rs2559082
NM_003494.3(DYSF):c.792+11T>C rs13428076
NM_003494.3(DYSF):c.855+4T>C rs11903960
NM_003494.3(DYSF):c.942C>T (p.His314=) rs36122356

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