ClinVar Miner

List of variants in gene DYSF reported as likely pathogenic for Limb-girdle muscular dystrophy, type 2B

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Total variants: 77
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HGVS dbSNP
Multiple alleles
NC_000002.11:g.71788622_71897384dup
NM_001130987.1(DYSF):c.1258dup (p.Ala420Glyfs) rs779969348
NM_001130987.1(DYSF):c.1721T>C (p.Leu574Pro) rs200916654
NM_001130987.1(DYSF):c.3085+1G>T rs1553555585
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.1(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.1(DYSF):c.4701C>G (p.Tyr1567Ter) rs770905160
NM_001130987.1(DYSF):c.5650delA (p.Ile1884Leufs) rs1553416039
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter)
NM_003494.3(DYSF):c.1020C>A (p.Ser340Arg) rs766891289
NM_003494.3(DYSF):c.1168G>A (p.Asp390Asn) rs886042389
NM_003494.3(DYSF):c.1180+5G>A rs766433603
NM_003494.3(DYSF):c.1181-2A>C rs1553531682
NM_003494.3(DYSF):c.1397+1G>A rs1553536007
NM_003494.3(DYSF):c.1398-1G>A rs398123768
NM_003494.3(DYSF):c.1448C>A (p.Ser483Ter) rs139258703
NM_003494.3(DYSF):c.1480+1delG rs1553537332
NM_003494.3(DYSF):c.1521delCinsAA (p.Asp507Glufs) rs1553541329
NM_003494.3(DYSF):c.1639-6T>A rs886039573
NM_003494.3(DYSF):c.1852G>A (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.1852G>C (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.1861G>A (p.Gly621Arg) rs886043900
NM_003494.3(DYSF):c.1A>G (p.Met1Val) rs1259378167
NM_003494.3(DYSF):c.2163-2A>G rs747289205
NM_003494.3(DYSF):c.2355+1G>A rs151317754
NM_003494.3(DYSF):c.237-1G>A rs1553518087
NM_003494.3(DYSF):c.2810+1G>A rs199954546
NM_003494.3(DYSF):c.2811-2A>C rs886043964
NM_003494.3(DYSF):c.2T>C (p.Met1Thr) rs1459713589
NM_003494.3(DYSF):c.3041A>G (p.Tyr1014Cys) rs756328339
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.3(DYSF):c.3137G>A (p.Arg1046His) rs121908958
NM_003494.3(DYSF):c.339delA (p.Ala115Profs) rs886042379
NM_003494.3(DYSF):c.3517dupT (p.Ser1173Phefs) rs766341386
NM_003494.3(DYSF):c.3773delT (p.Phe1258Serfs) rs1553376558
NM_003494.3(DYSF):c.3843+1G>A rs1553376691
NM_003494.3(DYSF):c.3903+2T>A rs1553377764
NM_003494.3(DYSF):c.3915delA (p.Asp1306Thrfs) rs1553381945
NM_003494.3(DYSF):c.4022T>C (p.Leu1341Pro) rs757917335
NM_003494.3(DYSF):c.4253G>A (p.Gly1418Asp) rs398123787
NM_003494.3(DYSF):c.4408C>T (p.Gln1470Ter) rs886044411
NM_003494.3(DYSF):c.4411-2A>G rs1213965862
NM_003494.3(DYSF):c.4434G>A (p.Trp1478Ter) rs766016391
NM_003494.3(DYSF):c.4509+1G>A
NM_003494.3(DYSF):c.4553delT (p.Leu1518Argfs) rs1553408378
NM_003494.3(DYSF):c.457+1G>A rs1278864604
NM_003494.3(DYSF):c.4886+1249G>T rs886042110
NM_003494.3(DYSF):c.5057+2T>C rs1553412826
NM_003494.3(DYSF):c.5077C>T (p.Arg1693Trp) rs863225021
NM_003494.3(DYSF):c.5078G>A rs779987458
NM_003494.3(DYSF):c.5083C>T (p.Gln1695Ter) rs886044422
NM_003494.3(DYSF):c.5302C>T (p.Arg1768Trp) rs746243052
NM_003494.3(DYSF):c.5303G>A (p.Arg1768Gln) rs148860301
NM_003494.3(DYSF):c.5340+1G>A rs1553414413
NM_003494.3(DYSF):c.5414dup (p.Arg1806Thrfs) rs1553415211
NM_003494.3(DYSF):c.5629T>C (p.Tyr1877His) rs762258343
NM_003494.3(DYSF):c.5667+1G>A rs909564120
NM_003494.3(DYSF):c.5668-1G>C rs751473506
NM_003494.3(DYSF):c.5668-7G>A rs753861836
NM_003494.3(DYSF):c.5768-1G>C rs771257070
NM_003494.3(DYSF):c.5908C>T (p.Pro1970Ser) rs1057521141
NM_003494.3(DYSF):c.6057-2A>G rs1451269647
NM_003494.3(DYSF):c.6124C>T (p.Arg2042Cys) rs121908955
NM_003494.3(DYSF):c.6134G>A (p.Trp2045Ter) rs1553422709
NM_003494.3(DYSF):c.66_69dup (p.Cys24Leufs) rs1553495983
NM_003494.3(DYSF):c.755C>T (p.Thr252Met) rs398123802
NM_003494.3(DYSF):c.779C>G (p.Pro260Arg)
NM_003494.3(DYSF):c.790G>T (p.Glu264Ter) rs794727851
NM_003494.3(DYSF):c.792+1G>A rs886044377
NM_003494.3(DYSF):c.856-2A>G rs1553522730
NM_003494.3(DYSF):c.863A>T (p.Asp288Val) rs1553522751
NM_003494.3(DYSF):c.895G>A (p.Gly299Arg) rs121908963
NM_003494.3(DYSF):c.965T>C (p.Leu322Pro) rs768546511
NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]
NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]
NM_003494.3:c.5083delC

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