ClinVar Miner

List of variants in gene DYSF reported as benign for Dysferlinopathy

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Total variants: 52
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HGVS dbSNP
NM_003494.3(DYSF):c.1049C>T (p.Ala350Val) rs115279465
NM_003494.3(DYSF):c.1120G>C (p.Val374Leu) rs150724610
NM_003494.3(DYSF):c.1192G>A (p.Val398Met) rs144202114
NM_003494.3(DYSF):c.1215C>T (p.Ile405=) rs148697028
NM_003494.3(DYSF):c.1284+6G>C rs75796187
NM_003494.3(DYSF):c.1369G>A (p.Glu457Lys) rs61740288
NM_003494.3(DYSF):c.1422C>A (p.Ile474=) rs34387018
NM_003494.3(DYSF):c.1422C>T (p.Ile474=) rs34387018
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.1860C>T (p.Tyr620=) rs35721373
NM_003494.3(DYSF):c.1890G>A (p.Pro630=) rs115849497
NM_003494.3(DYSF):c.2053C>G (p.Leu685Val) rs74423119
NM_003494.3(DYSF):c.2367C>T (p.Ser789=) rs560856407
NM_003494.3(DYSF):c.2500A>G (p.Ile834Val) rs34671418
NM_003494.3(DYSF):c.2588A>C (p.Asp863Ala) rs35884879
NM_003494.3(DYSF):c.2763G>A (p.Ser921=) rs148902254
NM_003494.3(DYSF):c.2802G>A (p.Pro934=) rs34836829
NM_003494.3(DYSF):c.2948A>C (p.Lys983Thr) rs34061568
NM_003494.3(DYSF):c.3057C>T (p.Pro1019=) rs143475751
NM_003494.3(DYSF):c.3065G>A (p.Arg1022Gln) rs34211915
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.3283C>T (p.Arg1095Cys) rs141536854
NM_003494.3(DYSF):c.3287G>A (p.Arg1096His) rs59915619
NM_003494.3(DYSF):c.3349-10G>A rs116733194
NM_003494.3(DYSF):c.3534C>T (p.Ile1178=) rs79899601
NM_003494.3(DYSF):c.3702+9G>T rs191746041
NM_003494.3(DYSF):c.3725G>A (p.Arg1242His) rs2303603
NM_003494.3(DYSF):c.383G>A (p.Gly128Glu) rs34997054
NM_003494.3(DYSF):c.3844-4C>G rs555206040
NM_003494.3(DYSF):c.3892A>G (p.Ile1298Val) rs121908954
NM_003494.3(DYSF):c.3973A>G (p.Ile1325Val) rs145401010
NM_003494.3(DYSF):c.3992G>T (p.Arg1331Leu) rs61742872
NM_003494.3(DYSF):c.4068C>T (p.Ser1356=) rs2303607
NM_003494.3(DYSF):c.426C>T (p.Ser142=) rs115390288
NM_003494.3(DYSF):c.4323G>A (p.Gln1441=) rs76576806
NM_003494.3(DYSF):c.4374C>T (p.Ile1458=) rs145690047
NM_003494.3(DYSF):c.4376A>G (p.Asp1459Gly) rs61738567
NM_003494.3(DYSF):c.4443C>T (p.Phe1481=) rs544993852
NM_003494.3(DYSF):c.4504C>T (p.Leu1502=) rs7573406
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.4941C>A (p.Leu1647=) rs141476432
NM_003494.3(DYSF):c.509C>A (p.Ala170Glu) rs34999029
NM_003494.3(DYSF):c.5361C>T (p.Val1787=) rs145143725
NM_003494.3(DYSF):c.5626G>A (p.Asp1876Asn) rs115013641
NM_003494.3(DYSF):c.565C>G (p.Leu189Val) rs13407355
NM_003494.3(DYSF):c.570T>C (p.Pro190=) rs35392229
NM_003494.3(DYSF):c.6063C>T (p.Pro2021=) rs147263499
NM_003494.3(DYSF):c.681C>T (p.Ile227=) rs138054675

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