ClinVar Miner

List of variants studied for Miyoshi muscular dystrophy 1

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 70
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HGVS dbSNP
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)
NM_001130987.2(DYSF):c.147+1G>A
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln) rs755829878
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) rs121908953
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) rs121908957
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)
NM_001130987.2(DYSF):c.2864+1G>A rs199954546
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) rs150942486
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter)
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) rs1024524968
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) rs1573100371
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]

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