ClinVar Miner

List of variants in gene DYSF studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 193
Download table as spreadsheet
HGVS dbSNP
NM_001130987.2(DYSF):c.*18A>G rs1057521877
NM_001130987.2(DYSF):c.1033+43del rs149875093
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.1149+7A>T rs771741504
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001130987.2(DYSF):c.1276+11C>T rs35982795
NM_001130987.2(DYSF):c.1276+5G>A rs766433603
NM_001130987.2(DYSF):c.1277-48A>G rs4852800
NM_001130987.2(DYSF):c.1288G>A (p.Val430Met) rs144202114
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028
NM_001130987.2(DYSF):c.1320C>T (p.Phe440=) rs779669549
NM_001130987.2(DYSF):c.1380+6G>C rs75796187
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764
NM_001130987.2(DYSF):c.1449+11T>C rs548993658
NM_001130987.2(DYSF):c.1449+13C>T rs4852801
NM_001130987.2(DYSF):c.1449+7C>T rs199608017
NM_001130987.2(DYSF):c.1450-15C>T rs376442287
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1577-10T>C rs371967475
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys) rs767415886
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374
NM_001130987.2(DYSF):c.1807-24C>G rs2303595
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) rs146261069
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.1931T>C (p.Met644Thr) rs141867897
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1985-15G>T rs146407633
NM_001130987.2(DYSF):c.1985-31C>A rs13424178
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=) rs199565036
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.2034G>A (p.Val678=) rs138111360
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp) rs148652047
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119
NM_001130987.2(DYSF):c.2110-43G>T rs72827543
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496
NM_001130987.2(DYSF):c.2216+16C>T rs111389127
NM_001130987.2(DYSF):c.2216+9dup rs760948624
NM_001130987.2(DYSF):c.2217-11G>A rs200853014
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2316T>C (p.Ala772=) rs141314294
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=) rs553605812
NM_001130987.2(DYSF):c.239+16G>C rs370433490
NM_001130987.2(DYSF):c.239+20G>A rs12470028
NM_001130987.2(DYSF):c.239+31C>G rs78958249
NM_001130987.2(DYSF):c.2409+14G>A rs141170955
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=) rs560856407
NM_001130987.2(DYSF):c.2484C>T (p.Pro828=) rs143667543
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920
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.2652G>A (p.Glu884=) rs1221035313
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr) rs759171890
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829
NM_001130987.2(DYSF):c.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654
NM_001130987.2(DYSF):c.2980-15C>T rs148732505
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822
NM_001130987.2(DYSF):c.3086-17G>A rs3764971
NM_001130987.2(DYSF):c.3086-9C>T rs185350547
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915
NM_001130987.2(DYSF):c.3126G>A (p.Pro1042=) rs377235191
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys) rs752810646
NM_001130987.2(DYSF):c.3228+13G>A rs896149148
NM_001130987.2(DYSF):c.3229-31G>A rs72902605
NM_001130987.2(DYSF):c.3239_3244CGGAGG[3] (p.1080_1081AE[3]) rs398123779
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624
NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=) rs201477760
NM_001130987.2(DYSF):c.3311C>T (p.Thr1104Ile) rs1553361773
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619
NM_001130987.2(DYSF):c.3403-10G>A rs116733194
NM_001130987.2(DYSF):c.345+8C>T rs780906230
NM_001130987.2(DYSF):c.346-16G>A rs576372858
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=) rs576460368
NM_001130987.2(DYSF):c.3496+14C>T rs112034381
NM_001130987.2(DYSF):c.3574+26C>G rs115981643
NM_001130987.2(DYSF):c.3575-12C>T rs200680233
NM_001130987.2(DYSF):c.3575-17C>T rs13421969
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met) rs1294912316
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.3756+9G>T rs191746041
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146
NM_001130987.2(DYSF):c.3757-12C>T rs114968209
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909
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.4021C>G (p.Gln1341Glu) rs147950418
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.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.4050C>T (p.Thr1350=) rs138751942
NM_001130987.2(DYSF):c.4060-40C>T rs2303605
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607
NM_001130987.2(DYSF):c.4222-20G>A rs111935215
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.429C>T (p.Ser143=) rs115390288
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806
NM_001130987.2(DYSF):c.4387+16_4387+42del rs750290973
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly) rs61738567
NM_001130987.2(DYSF):c.4470A>C (p.Ala1490=) rs546061624
NM_001130987.2(DYSF):c.4473C>T (p.Asp1491=) rs948317553
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736
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.4626+43A>G rs84182
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266
NM_001130987.2(DYSF):c.4650T>C (p.Asn1550=) rs756403845
NM_001130987.2(DYSF):c.4756-3C>T rs371227553
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.4865A>G (p.Tyr1622Cys) rs797045541
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383
NM_001130987.2(DYSF):c.5004-37C>T rs2303599
NM_001130987.2(DYSF):c.5022C>T (p.Cys1674=) rs149989207
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=) rs141476432
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407
NM_001130987.2(DYSF):c.5409C>T (p.His1803=) rs375787986
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=) rs145143725
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284
NM_001130987.2(DYSF):c.5547-4C>T rs373098428
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=) rs769289729
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641
NM_001130987.2(DYSF):c.5785-41C>T rs2559081
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=) rs772521748
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.6086A>G (p.Glu2029Gly) rs773799968
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001130987.2(DYSF):c.6174-8G>A rs777167646
NM_001130987.2(DYSF):c.6174-9C>T rs201070766
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499
NM_001130987.2(DYSF):c.6270C>T (p.Ile2090=) rs1231224348
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.690C>T (p.Pro230=) rs376293526
NM_001130987.2(DYSF):c.760-17C>T rs61104194
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121
NM_001130987.2(DYSF):c.777C>T (p.Ile259=) rs138054675
NM_001130987.2(DYSF):c.828C>T (p.Thr276=) rs376154300
NM_001130987.2(DYSF):c.888+11T>C rs13428076
NM_001130987.2(DYSF):c.889-34C>T rs115184725
NM_001130987.2(DYSF):c.889-6C>T rs370223980
NM_001130987.2(DYSF):c.92-3T>C rs367833503
NM_001130987.2(DYSF):c.951+39T>C rs74384941
NM_001130987.2(DYSF):c.951+4T>C rs11903960
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078
NM_003494.3(DYSF):c.4577A>C rs76086153
NM_003494.4(DYSF):c.*107T>A rs11903223
NM_003494.4(DYSF):c.-12C>G rs1553495883
NM_003494.4(DYSF):c.-34G>T rs192358316
NM_003494.4(DYSF):c.-44C>T rs199569685
NM_003494.4(DYSF):c.-50T>A rs758686196
NM_003494.4(DYSF):c.3738A>G (p.Gln1246=) rs762041312
NM_003494.4(DYSF):c.457+2T>G rs750356247
NM_003494.4(DYSF):c.4C>T (p.Leu2=) rs772536111
NM_003494.4(DYSF):c.509C>T (p.Ala170Val) rs34999029

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.