ClinVar Miner

List of variants in gene DYSF studied for Miyoshi myopathy

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Total variants: 103
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HGVS dbSNP
NM_001130987.2(DYSF):c.*142G>A rs774156078
NM_001130987.2(DYSF):c.*179G>A rs886056284
NM_001130987.2(DYSF):c.*199T>G rs13429381
NM_001130987.2(DYSF):c.*245T>C rs886056285
NM_001130987.2(DYSF):c.*267C>G rs181677134
NM_001130987.2(DYSF):c.*53G>A rs114777968
NM_001130987.2(DYSF):c.*75C>T rs374833260
NM_001130987.2(DYSF):c.*78C>T rs367543759
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1276+11C>T rs35982795
NM_001130987.2(DYSF):c.1276+13C>T rs373530549
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=) rs769254776
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926
NM_001130987.2(DYSF):c.1380+6G>C rs75796187
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764
NM_001130987.2(DYSF):c.1449+13C>T rs4852801
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861
NM_001130987.2(DYSF):c.1493+13T>C rs886056279
NM_001130987.2(DYSF):c.1503G>A (p.Leu501=) rs886056280
NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser) rs748826870
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) rs201515915
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1807-10C>T rs749361351
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val) rs770228554
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085
NM_001130987.2(DYSF):c.2217-11G>A rs200853014
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) rs143568054
NM_001130987.2(DYSF):c.2409+14G>A rs141170955
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr) rs143632564
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg) rs886056281
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) rs201209494
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654
NM_001130987.2(DYSF):c.2980-15C>T rs148732505
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala) rs886042550
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile) rs770883682
NM_001130987.2(DYSF):c.3239_3244CGGAGG[3] (p.1080_1081AE[3]) rs398123779
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala) rs886056278
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.3898-4C>G rs555206040
NM_001130987.2(DYSF):c.3927+10G>A rs886056282
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=) rs773240314
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047
NM_001130987.2(DYSF):c.4464+7T>C rs369949055
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) rs182185801
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=) rs763309812
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile) rs886056283
NM_001130987.2(DYSF):c.558A>G (p.Thr186=) rs781732915
NM_001130987.2(DYSF):c.5643-12A>G rs375507062
NM_001130987.2(DYSF):c.5785-8C>T rs201191038
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys) rs370286628
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671
NM_001130987.2(DYSF):c.6321+15C>T rs2559082
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218
NM_001130987.2(DYSF):c.759+10G>A rs200198865
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439
NM_001130987.2(DYSF):c.888+11T>C rs13428076
NM_001130987.2(DYSF):c.951+4T>C rs11903960

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