ClinVar Miner

List of variants reported as likely pathogenic for Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset

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Total variants: 43
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HGVS dbSNP
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter) rs0
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter) rs0
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter) rs0
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter) rs0
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter) rs0
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter) rs0
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter) rs0
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter) rs0
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) rs0
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter) rs0
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter) rs0
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter) rs0
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter) rs0
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter) rs0
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter) rs0
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter) rs0
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) rs0
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter) rs0
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter) rs0
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) rs0
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter) rs0
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter) rs0
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) rs0
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter) rs0
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter) rs0
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) rs0
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter) rs0
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter) rs0
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter) rs0
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs0
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter) rs0
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter) rs0
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter) rs0
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter) rs0
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter) rs0
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter) rs0
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter) rs0
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter) rs0
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter) rs0
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A] rs0

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