ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2B

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 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.1258dup (p.Ala420fs) rs779969348 0.00002
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln) rs752689148 0.00002
NM_001130987.2(DYSF):c.3403-2A>G rs370874727 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.2217-2A>G rs747289205 0.00001
NM_001130987.2(DYSF):c.2409+1G>A rs151317754 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg) rs776472879 0.00001
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter) rs769721856 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.4528-2A>G rs1213965862 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 0.00001
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln) rs779987458 0.00001
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) rs886044422 0.00001
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter) rs1342179740 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5784+1G>A rs909564120 0.00001
NM_001130987.2(DYSF):c.5884+1G>A rs756689063 0.00001
NM_001130987.2(DYSF):c.5885-1G>C rs771257070 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963 0.00001
NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu) rs200759807
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.1033+2T>C rs886042617
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro) rs2152742282
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)
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.1277-2A>C rs1553531682
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter) rs2089169741
NM_001130987.2(DYSF):c.1493+1G>A rs1553536007
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter) rs139258703
NM_001130987.2(DYSF):c.1576+1del rs1553537332
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
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.1906G>C (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
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.240-1G>A rs1553518087
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.2864+1dup
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
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.3085+1G>T rs1553555585
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs) rs753711667
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
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.3433_3434dup (p.Met1146fs)
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter) rs2093222376
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
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.3756del (p.Thr1251_Tyr1252insTer) rs1574264671
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs) rs1553376558
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs) rs1574277160
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter) rs1462064763
NM_001130987.2(DYSF):c.3897+1G>A rs1553376691
NM_001130987.2(DYSF):c.3957+2T>A rs1553377764
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs) rs1553381945
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) rs1558613592
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.4221+5del rs1574341049
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.4550G>A (p.Trp1517Ter)
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
NM_001130987.2(DYSF):c.4626+1G>A rs1558708492
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs) rs1553408378
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs) rs1572994572
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter) rs770905160
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter) rs1573009747
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.5003+1249G>T rs886042110
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.5174+2T>C rs1553412826
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) rs1558771348
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.5265_5280del (p.Val1754_Tyr1755insTer)
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.5437del (p.Leu1813fs)
NM_001130987.2(DYSF):c.5457+1G>A rs1553414413
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs) rs1553415211
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) rs886042584
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys) rs1573094789
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.5650del (p.Ile1884fs) rs1553416039
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu) rs1233961202
NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs)
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His) rs762258343
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
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.6174-2A>G rs1451269647
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter) rs1553422709
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.875C>G (p.Pro292Arg) rs1559053603
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) rs794727851
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_001130987.2(DYSF):c.952-2A>G rs1553522730
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val) rs1553522751
NM_001130987.2(DYSF):c.982del (p.Ala328fs)
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_001130987.2(DYSF):c.994del (p.Glu332fs)
NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]
NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs) rs1553541329
NM_003494.4(DYSF):c.1A>G (p.Met1Val) rs1259378167
NM_003494.4(DYSF):c.2T>C (p.Met1Thr) rs1459713589
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs) rs1553495983
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
Single allele

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