ClinVar Miner

List of variants in gene DYSF reported as likely pathogenic

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Total variants: 109
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HGVS dbSNP
NC_000002.11:g.71788622_71897384dup
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.1003-2A>G rs1559065297
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389
NM_001130987.2(DYSF):c.1276+5G>A rs766433603
NM_001130987.2(DYSF):c.1277-2A>C rs1553531682
NM_001130987.2(DYSF):c.1493+1G>A rs1553536007
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter) rs139258703
NM_001130987.2(DYSF):c.1577-1651delinsAA rs1553541329
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg) rs1553508863
NM_001130987.2(DYSF):c.1693-6T>A rs886039573
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu575_Leu576insVal) rs1446214240
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092
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.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.2217-2A>G rs747289205
NM_001130987.2(DYSF):c.240-1G>A rs1553518087
NM_001130987.2(DYSF):c.2409+1G>A rs151317754
NM_001130987.2(DYSF):c.2864+1G>A rs199954546
NM_001130987.2(DYSF):c.2864+5G>A rs886044131
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3085+1G>T rs1553555585
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs) rs1553376558
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
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.404C>T (p.Pro135Leu) rs773837400
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411
NM_001130987.2(DYSF):c.4528-2A>G rs1213965862
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.460+1G>A rs1278864604
NM_001130987.2(DYSF):c.4626+1G>A rs1558708492
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs) rs1553408378
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter) rs770905160
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.5174+2T>C rs1553412826
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) rs886044422
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) rs1558771348
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301
NM_001130987.2(DYSF):c.5457+1G>A rs1553414413
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) rs886042584
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) rs1024524968
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His) rs762258343
NM_001130987.2(DYSF):c.5784+1G>A rs909564120
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5885-1G>C rs771257070
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001130987.2(DYSF):c.6174-2A>G rs1451269647
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter) rs1553422709
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802
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.991G>A (p.Gly331Arg) rs121908963
NM_003494.3(DYSF):c.1480+1delG rs1553537332
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.3(DYSF):c.5078G>A rs779987458
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.1054-43_1059delinsA
NM_003494.4(DYSF):c.1162dup (p.Ala388fs) rs779969348
NM_003494.4(DYSF):c.1434del (p.Tyr479fs) rs786205632
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.3118C>T (p.Arg1040Trp) rs1553556116
NM_003494.4(DYSF):c.3517dup (p.Ser1173fs) rs766341386
NM_003494.4(DYSF):c.4022T>C (p.Leu1341Pro) rs757917335
NM_003494.4(DYSF):c.4333+2T>A rs759939755
NM_003494.4(DYSF):c.5018del (p.Lys1673fs) rs1064797253
NM_003494.4(DYSF):c.5414dup (p.Arg1806fs) rs1553415211
NM_003494.4(DYSF):c.5767+1G>A
NM_003494.4(DYSF):c.6056G>A (p.Arg2019Lys) rs886042452
NM_003494.4(DYSF):c.631A>G (p.Lys211Glu) rs786205525
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs) rs1553495983
NM_003494.4(DYSF):c.757C>T (p.Arg253Trp) rs149827237
NM_003494.4(DYSF):c.89-1G>A rs786205524
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]

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