ClinVar Miner

List of variants in gene DYSF reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 323
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HGVS dbSNP
NC_000002.12:g.71453502T>C
NC_000002.12:g.71482001C>G
NC_000002.12:g.71520251del
NC_000002.12:g.71528250A>G
NC_000002.12:g.71552987C>G
NC_000002.12:g.71553776C>A
NC_000002.12:g.71555922G>T
NC_000002.12:g.71611370del
NC_000002.12:g.71644106A>G
NC_000002.12:g.71664231C>T
NC_000002.12:g.71674156C>T
NM_001130987.2(DYSF):c.*18A>G rs1057521877
NM_001130987.2(DYSF):c.-128G>A
NM_001130987.2(DYSF):c.-30G>A
NM_001130987.2(DYSF):c.1002+216C>T
NM_001130987.2(DYSF):c.1003-73A>G
NM_001130987.2(DYSF):c.1033+230G>T
NM_001130987.2(DYSF):c.1033+94G>T
NM_001130987.2(DYSF):c.1034-196C>G
NM_001130987.2(DYSF):c.1034-20G>A rs12713756
NM_001130987.2(DYSF):c.1034-27A>G
NM_001130987.2(DYSF):c.1034-64C>T
NM_001130987.2(DYSF):c.1034-68T>C
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+54C>T
NM_001130987.2(DYSF):c.1149+5G>A rs1023002894
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.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707
NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter) rs1131691651
NM_001130987.2(DYSF):c.1276+11C>T rs35982795
NM_001130987.2(DYSF):c.1276+172A>G
NM_001130987.2(DYSF):c.1288G>A (p.Val430Met) rs144202114
NM_001130987.2(DYSF):c.1320C>T (p.Phe440=) rs779669549
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=) rs140667960
NM_001130987.2(DYSF):c.1380+136C>T
NM_001130987.2(DYSF):c.1380+2T>C rs398123765
NM_001130987.2(DYSF):c.1380+67G>A
NM_001130987.2(DYSF):c.1380+6G>C rs75796187
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp) rs1131691788
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.1449G>A (p.Met483Ile) rs146064054
NM_001130987.2(DYSF):c.1450-15C>T rs376442287
NM_001130987.2(DYSF):c.1450-88A>G
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288
NM_001130987.2(DYSF):c.148-277T>C
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1494-163G>T
NM_001130987.2(DYSF):c.1494-76G>A
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1576+118G>A
NM_001130987.2(DYSF):c.1576+253T>A
NM_001130987.2(DYSF):c.1577-103G>A
NM_001130987.2(DYSF):c.1577-10T>C rs371967475
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294
NM_001130987.2(DYSF):c.1577-1679G>T rs1057524492
NM_001130987.2(DYSF):c.1577-1825A>G
NM_001130987.2(DYSF):c.1577-1826C>T
NM_001130987.2(DYSF):c.1577-1852G>A
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr) rs561875696
NM_001130987.2(DYSF):c.1692+206C>T
NM_001130987.2(DYSF):c.1693-62C>T
NM_001130987.2(DYSF):c.1693-6T>A rs886039573
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His) rs1368149283
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu575_Leu576insVal) rs1446214240
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1806+182G>A
NM_001130987.2(DYSF):c.1806+265C>T
NM_001130987.2(DYSF):c.1806+29G>A
NM_001130987.2(DYSF):c.1807-13T>C
NM_001130987.2(DYSF):c.1807-288T>C
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768
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.1985-116T>C
NM_001130987.2(DYSF):c.1985-15G>T rs146407633
NM_001130987.2(DYSF):c.1985-195C>T
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.2107C>G (p.Leu703Val) rs74423119
NM_001130987.2(DYSF):c.2110-331C>G
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496
NM_001130987.2(DYSF):c.2216+16C>T rs111389127
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.2284C>T (p.Arg762Cys) rs181551438
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+8G>A
NM_001130987.2(DYSF):c.240-289G>A
NM_001130987.2(DYSF):c.2409+14G>A rs141170955
NM_001130987.2(DYSF):c.2410-117A>G
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.2509C>T (p.Arg837Trp) rs371841411
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418
NM_001130987.2(DYSF):c.2565+234G>T
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.2707G>A (p.Glu903Lys) rs770997582
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.2864+244G>C
NM_001130987.2(DYSF):c.2864+84G>C
NM_001130987.2(DYSF):c.2865-85C>G
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654
NM_001130987.2(DYSF):c.2979+112A>C
NM_001130987.2(DYSF):c.2980-15C>T rs148732505
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568
NM_001130987.2(DYSF):c.3086-17G>A rs3764971
NM_001130987.2(DYSF):c.3086-9C>T rs185350547
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.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.316C>T (p.Leu106=) rs374934430
NM_001130987.2(DYSF):c.3228+13G>A rs896149148
NM_001130987.2(DYSF):c.3228+202_3228+245del
NM_001130987.2(DYSF):c.3229-306G>A
NM_001130987.2(DYSF):c.3229-61G>C
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.3341G>A (p.Arg1114His) rs59915619
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3403-10G>A rs116733194
NM_001130987.2(DYSF):c.3403-112T>C
NM_001130987.2(DYSF):c.3403-121G>C
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399
NM_001130987.2(DYSF):c.345+8C>T rs780906230
NM_001130987.2(DYSF):c.346-16G>A rs576372858
NM_001130987.2(DYSF):c.3496+14C>T rs112034381
NM_001130987.2(DYSF):c.3496+187A>G
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) rs200719174
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782
NM_001130987.2(DYSF):c.3575-12C>T rs200680233
NM_001130987.2(DYSF):c.3575-17C>T rs13421969
NM_001130987.2(DYSF):c.3575-256G>C
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
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.3695C>T (p.Pro1232Leu) rs150942486
NM_001130987.2(DYSF):c.3756+133T>C
NM_001130987.2(DYSF):c.3756+134A>T
NM_001130987.2(DYSF):c.3756+202T>C
NM_001130987.2(DYSF):c.3756+227C>T
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.3757-277C>T
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001130987.2(DYSF):c.3898-206A>T
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr) rs202061751
NM_001130987.2(DYSF):c.3928-85G>T
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.3958-79C>T
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.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606
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.4221+119A>G
NM_001130987.2(DYSF):c.4221+96C>T
NM_001130987.2(DYSF):c.4222-20G>A rs111935215
NM_001130987.2(DYSF):c.4249C>T (p.Pro1417Ser) rs376134165
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.4307G>A (p.Gly1436Asp) rs398123787
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.4388-246C>T
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.4450C>A (p.Leu1484Ile) rs375465887
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.4474G>A (p.Gly1492Ser) rs766512164
NM_001130987.2(DYSF):c.4527+141C>G
NM_001130987.2(DYSF):c.4527+192A>G
NM_001130987.2(DYSF):c.4527+204C>A
NM_001130987.2(DYSF):c.4528-127C>T
NM_001130987.2(DYSF):c.4528-56A>G
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276
NM_001130987.2(DYSF):c.460+150A>G
NM_001130987.2(DYSF):c.460+17G>C rs115170960
NM_001130987.2(DYSF):c.460+222G>A
NM_001130987.2(DYSF):c.460+243G>A
NM_001130987.2(DYSF):c.460+82C>T
NM_001130987.2(DYSF):c.460+9C>A
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406
NM_001130987.2(DYSF):c.4627-292A>G
NM_001130987.2(DYSF):c.4627-305C>T
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.4755+58A>G
NM_001130987.2(DYSF):c.4756-38G>A
NM_001130987.2(DYSF):c.4756-3C>T rs371227553
NM_001130987.2(DYSF):c.4821C>T (p.His1607=)
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.4904A>G (p.Asn1635Ser) rs772664716
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562
NM_001130987.2(DYSF):c.5003+1320A>G
NM_001130987.2(DYSF):c.5003+1375C>G
NM_001130987.2(DYSF):c.5003+1380G>A
NM_001130987.2(DYSF):c.5003+1393G>A
NM_001130987.2(DYSF):c.5004-162C>T
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.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.5317+192C>T
NM_001130987.2(DYSF):c.5318-225A>G
NM_001130987.2(DYSF):c.5409C>T (p.His1803=) rs375787986
NM_001130987.2(DYSF):c.5457+232C>A
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser) rs145832952
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln) rs762675721
NM_001130987.2(DYSF):c.554-75del
NM_001130987.2(DYSF):c.5546+2T>A rs1553415233
NM_001130987.2(DYSF):c.5547-4C>T rs373098428
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112
NM_001130987.2(DYSF):c.5642+64T>C
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter) rs886043966
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala) rs1024524968
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.5784+199A>G
NM_001130987.2(DYSF):c.5785-185G>A
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959
NM_001130987.2(DYSF):c.5884+71C>T
NM_001130987.2(DYSF):c.5885-16T>C rs1863812
NM_001130987.2(DYSF):c.5939A>T (p.Lys1980Met) rs536703008
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter) rs1553420848
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val) rs201784424
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.6064-184T>A
NM_001130987.2(DYSF):c.6064-201G>T
NM_001130987.2(DYSF):c.6064-273A>G
NM_001130987.2(DYSF):c.6064-33G>A
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799
NM_001130987.2(DYSF):c.6174-297T>C
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.6238C>T (p.Arg2080Trp) rs200990851
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671
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.718A>G (p.Thr240Ala) rs150029218
NM_001130987.2(DYSF):c.759+206G>C
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.803A>C (p.Asn268Thr) rs150917600
NM_001130987.2(DYSF):c.828C>T (p.Thr276=) rs376154300
NM_001130987.2(DYSF):c.888+11T>C rs13428076
NM_001130987.2(DYSF):c.888+97T>C
NM_001130987.2(DYSF):c.889-104G>A
NM_001130987.2(DYSF):c.889-68G>A
NM_001130987.2(DYSF):c.889-6C>T rs370223980
NM_001130987.2(DYSF):c.91+280A>G
NM_001130987.2(DYSF):c.92-3T>C rs367833503
NM_001130987.2(DYSF):c.951+190G>T
NM_001130987.2(DYSF):c.951+268T>C
NM_001130987.2(DYSF):c.951+4T>C rs11903960
NM_001130987.2(DYSF):c.951+82A>G
NM_001130987.2(DYSF):c.951+83C>T
NM_001130987.2(DYSF):c.952-135C>T
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) rs112007817
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.2811-7_2811-5delTCC rs761299898
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.3(DYSF):c.4577A>C rs76086153
NM_003494.4(DYSF):c.-12C>G rs1553495883
NM_003494.4(DYSF):c.-179C>A
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.4C>T (p.Leu2=) rs772536111
NM_003494.4(DYSF):c.88+12437C>T
NM_003494.4(DYSF):c.88+12487C>A
NM_003494.4(DYSF):c.88+12589T>C

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