ClinVar Miner

List of variants studied for Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset

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ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) rs185119682 0.00053
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054 0.00021
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) rs150942486 0.00020
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463 0.00016
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu) rs150717638 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00007
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) rs182450244 0.00005
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys) rs539727858 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697 0.00004
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp) rs762486621 0.00004
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His) rs779159879 0.00004
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys) rs752946123 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) rs372952394 0.00004
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met) rs766924837 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln) rs755829878 0.00002
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) rs570860273 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) rs957111625 0.00002
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) rs764849844 0.00002
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln) rs375071568 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg) rs776472879 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) rs1156805286 0.00001
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu) rs199827126 0.00001
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter) rs1342179740 0.00001
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) rs886043489 0.00001
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
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.147+1G>A rs2082833010
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.1762C>T (p.Gln588Ter) rs886042633
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.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) rs2092343409
NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly) rs2152815107
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.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
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.4254dup (p.Ile1419fs) rs398123786
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.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) rs576130413
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
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.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter) rs868779799
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) rs753279446
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.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter) rs2094976441
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs) rs2095035479
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
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.5680_5681insC (p.Asp1894fs)
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.6259ATCCTCTTCATC[1] (p.2087ILFI[1]) rs749619435
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.759+1G>C rs398123800
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter) rs759065714
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_001130987.2(DYSF):c.994del (p.Glu332fs)
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
NM_003494.4(DYSF):c.1481-1G>A rs398123770

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