ClinVar Miner

List of variants in gene DYSF reported by PreventionGenetics

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Gene type:
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Total variants: 75
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HGVS dbSNP
NM_003494.3(DYSF):c.1053+7A>T rs771741504
NM_003494.3(DYSF):c.1180+11C>T rs35982795
NM_003494.3(DYSF):c.1181-48A>G rs4852800
NM_003494.3(DYSF):c.1284+6G>C rs75796187
NM_003494.3(DYSF):c.1353+13C>T rs4852801
NM_003494.3(DYSF):c.1369G>A (p.Glu457Lys) rs61740288
NM_003494.3(DYSF):c.1422C>T (p.Ile474=) rs34387018
NM_003494.3(DYSF):c.1522+15C>G rs76402294
NM_003494.3(DYSF):c.1572C>T (p.Asn524=) rs139495331
NM_003494.3(DYSF):c.1731G>A (p.Ala577=) rs35984374
NM_003494.3(DYSF):c.1753-24C>G rs2303595
NM_003494.3(DYSF):c.1827T>C (p.Asp609=) rs2303596
NM_003494.3(DYSF):c.1860C>T (p.Tyr620=) rs35721373
NM_003494.3(DYSF):c.1890G>A (p.Pro630=) rs115849497
NM_003494.3(DYSF):c.1931-31C>A rs13424178
NM_003494.3(DYSF):c.1962C>T (p.Asn654=) rs199565036
NM_003494.3(DYSF):c.2053C>G (p.Leu685Val) rs74423119
NM_003494.3(DYSF):c.2056-43G>T rs72827543
NM_003494.3(DYSF):c.2162+16C>T rs111389127
NM_003494.3(DYSF):c.2280C>T (p.Leu760=) rs116204385
NM_003494.3(DYSF):c.236+20G>A rs12470028
NM_003494.3(DYSF):c.2500A>G (p.Ile834Val) rs34671418
NM_003494.3(DYSF):c.2568G>A (p.Leu856=) rs191337920
NM_003494.3(DYSF):c.2583A>T (p.Ser861=) rs2288355
NM_003494.3(DYSF):c.2802G>A (p.Pro934=) rs34836829
NM_003494.3(DYSF):c.2926-15C>T rs148732505
NM_003494.3(DYSF):c.3032-17G>A rs3764971
NM_003494.3(DYSF):c.3065G>A (p.Arg1022Gln) rs34211915
NM_003494.3(DYSF):c.3175-31G>A rs72902605
NM_003494.3(DYSF):c.3191_3196dupCGGAGG (p.Glu1065_Gly1066insAlaGlu) rs398123779
NM_003494.3(DYSF):c.3213C>T (p.Tyr1071=) rs150355624
NM_003494.3(DYSF):c.3249C>T (p.Tyr1083=) rs201477760
NM_003494.3(DYSF):c.3287G>A (p.Arg1096His) rs59915619
NM_003494.3(DYSF):c.3349-10G>A rs116733194
NM_003494.3(DYSF):c.3520+26C>G rs115981643
NM_003494.3(DYSF):c.3521-17C>T rs13421969
NM_003494.3(DYSF):c.3703-12C>T rs114968209
NM_003494.3(DYSF):c.375G>A (p.Pro125=) rs377056951
NM_003494.3(DYSF):c.3798G>A (p.Pro1266=) rs139983909
NM_003494.3(DYSF):c.383G>A (p.Gly128Glu) rs34997054
NM_003494.3(DYSF):c.3892A>G (p.Ile1298Val) rs121908954
NM_003494.3(DYSF):c.393C>T (p.Pro131=) rs34603128
NM_003494.3(DYSF):c.3972C>T (p.Asn1324=) rs11558179
NM_003494.3(DYSF):c.3992G>T (p.Arg1331Leu) rs61742872
NM_003494.3(DYSF):c.4006-40C>T rs2303605
NM_003494.3(DYSF):c.4008C>A (p.Ile1336=) rs2303606
NM_003494.3(DYSF):c.4068C>T (p.Ser1356=) rs2303607
NM_003494.3(DYSF):c.4168-20G>A rs111935215
NM_003494.3(DYSF):c.4323G>A (p.Gln1441=) rs76576806
NM_003494.3(DYSF):c.4425C>T (p.Ile1475=) rs148055736
NM_003494.3(DYSF):c.4504C>T (p.Leu1502=) rs7573406
NM_003494.3(DYSF):c.4509+43A>G rs84182
NM_003494.3(DYSF):c.4512C>G (p.Val1504=) rs142483266
NM_003494.3(DYSF):c.457+17G>C rs115170960
NM_003494.3(DYSF):c.4731G>A (p.Glu1577=) rs62145939
NM_003494.3(DYSF):c.4820T>C (p.Ile1607Thr) rs146384562
NM_003494.3(DYSF):c.4887-37C>T rs2303599
NM_003494.3(DYSF):c.509C>A (p.Ala170Glu) rs34999029
NM_003494.3(DYSF):c.565C>G (p.Leu189Val) rs13407355
NM_003494.3(DYSF):c.5668-41C>T rs2559081
NM_003494.3(DYSF):c.570T>C (p.Pro190=) rs35392229
NM_003494.3(DYSF):c.5724C>T (p.Phe1908=) rs772521748
NM_003494.3(DYSF):c.5768-16T>C rs1863812
NM_003494.3(DYSF):c.5859A>C (p.Pro1953=) rs17718530
NM_003494.3(DYSF):c.594C>T (p.Pro198=) rs376293526
NM_003494.3(DYSF):c.6204+15C>T rs2559082
NM_003494.3(DYSF):c.664-17C>T rs61104194
NM_003494.3(DYSF):c.676G>A (p.Val226Met) rs150345121
NM_003494.3(DYSF):c.792+11T>C rs13428076
NM_003494.3(DYSF):c.793-34C>T rs115184725
NM_003494.3(DYSF):c.855+39T>C rs74384941
NM_003494.3(DYSF):c.855+4T>C rs11903960
NM_003494.3(DYSF):c.937+43delT rs149875093
NM_003494.3(DYSF):c.938-20G>A rs12713756
NM_003494.3(DYSF):c.942C>T (p.His314=) rs36122356

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