ClinVar Miner

List of variants in gene DYSF reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 61
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HGVS dbSNP
NM_001130987.2(DYSF):c.1034-20G>A rs12713756
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=) rs571559303
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001130987.2(DYSF):c.1276+11C>T rs35982795
NM_001130987.2(DYSF):c.1449+13C>T rs4852801
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374
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.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2216+16C>T rs111389127
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385
NM_001130987.2(DYSF):c.239+20G>A rs12470028
NM_001130987.2(DYSF):c.239+31C>G rs78958249
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=) rs560856407
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829
NM_001130987.2(DYSF):c.3086-17G>A rs3764971
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915
NM_001130987.2(DYSF):c.3239_3244CGGAGG[3] (p.1080_1081AE[3]) rs398123779
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854
NM_001130987.2(DYSF):c.3575-17C>T rs13421969
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3757-12C>T rs114968209
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399
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.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607
NM_001130987.2(DYSF):c.4222-20G>A rs111935215
NM_001130987.2(DYSF):c.429C>T (p.Ser143=) rs115390288
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852
NM_001130987.2(DYSF):c.460+17G>C rs115170960
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641
NM_001130987.2(DYSF):c.5885-16T>C rs1863812
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499
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.760-17C>T rs61104194
NM_001130987.2(DYSF):c.777C>T (p.Ile259=) rs138054675
NM_001130987.2(DYSF):c.888+11T>C rs13428076
NM_001130987.2(DYSF):c.951+39T>C rs74384941
NM_001130987.2(DYSF):c.951+4T>C rs11903960
NM_003494.4(DYSF):c.457+2T>G rs750356247
NM_003494.4(DYSF):c.509C>T (p.Ala170Val) rs34999029

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