ClinVar Miner

List of variants reported as likely pathogenic for Miyoshi muscular dystrophy 1 by Myriad Genetics, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter) rs1342179740 0.00001
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter) rs2082829594
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter) rs2087900330
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter) rs2089169741
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter) rs2090909751
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)
NM_001130987.2(DYSF):c.181del (p.Asp61fs)
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter) rs2082945195
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter) rs2091142154
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter) rs2091144091
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)
NM_001130987.2(DYSF):c.2253del (p.Thr752fs)
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter) rs2091951931
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) rs2092204417
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter) rs2092205152
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter) rs2092208616
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter) rs2092209337
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter) rs2092210085
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter) rs2092211777
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter) rs2092231526
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter) rs763925689
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) rs2092343409
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter) rs2092369130
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter) rs1666836481
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) rs1252415299
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter) rs2093222376
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter) rs2093464314
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) rs143393575
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter) rs773773555
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter) rs1462064763
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
NM_001130987.2(DYSF):c.431del (p.Pro144fs)
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) rs576130413
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter) rs2094828804
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter) rs2094861411
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter) rs868779799
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter) rs2094975129
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter) rs2094975881
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter) rs2094976185
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter) rs2094976441
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter) rs2095073059
NM_001130987.2(DYSF):c.561del (p.Gly188fs)
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter) rs1320752132
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter) rs2095289978
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)
NM_001130987.2(DYSF):c.640del (p.Ala214fs)
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter) rs759065714
NM_001130987.2(DYSF):c.994del (p.Glu332fs)

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