ClinVar Miner

List of variants in gene DYSF reported as benign for hereditary skeletal muscle disorder

Included ClinVar conditions (571):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3928-85G>T rs1529408 0.96005
NM_001130987.2(DYSF):c.5885-16T>C rs1863812 0.91575
NM_001130987.2(DYSF):c.4626+43A>G rs84182 0.87024
NM_001130987.2(DYSF):c.4528-56A>G rs84181 0.85683
NM_001130987.2(DYSF):c.1277-48A>G rs4852800 0.81805
NM_001130987.2(DYSF):c.1034-68T>C rs12713755 0.81086
NM_001130987.2(DYSF):c.1003-73A>G rs11675897 0.81016
NM_001130987.2(DYSF):c.5004-37C>T rs2303599 0.79706
NM_001130987.2(DYSF):c.5785-41C>T rs2559081 0.77107
NM_001130987.2(DYSF):c.1985-116T>C rs2303597 0.72705
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001130987.2(DYSF):c.1033+94G>T rs11687223 0.68496
NM_001130987.2(DYSF):c.1450-88A>G rs4852802 0.67986
NM_001130987.2(DYSF):c.1449+13C>T rs4852801 0.60553
NM_001130987.2(DYSF):c.3403-121G>C rs3811611 0.59433
NM_001130987.2(DYSF):c.2979+112A>C rs10183967 0.57695
NM_001130987.2(DYSF):c.1034-20G>A rs12713756 0.48623
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001130987.2(DYSF):c.460+150A>G rs57229705 0.19499
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_001130987.2(DYSF):c.3086-17G>A rs3764971 0.18932
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_001130987.2(DYSF):c.-30G>A rs61333801 0.17633
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_001130987.2(DYSF):c.2864+84G>C rs62143855 0.14839
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_001130987.2(DYSF):c.1494-163G>T rs79617374 0.13069
NM_001130987.2(DYSF):c.1034-64C>T rs55695728 0.12659
NM_001130987.2(DYSF):c.4221+96C>T rs2016605 0.12613
NM_001130987.2(DYSF):c.760-17C>T rs61104194 0.11792
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_001130987.2(DYSF):c.889-104G>A rs13417592 0.09831
NM_001130987.2(DYSF):c.148-91C>T rs35628632 0.09296
NM_001130987.2(DYSF):c.1149+54C>T rs56343439 0.09198
NM_001130987.2(DYSF):c.4221+119A>G rs1814333 0.08837
NM_001130987.2(DYSF):c.239+20G>A rs12470028 0.08061
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_001130987.2(DYSF):c.1807-24C>G rs2303595 0.04339
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001130987.2(DYSF):c.889-68G>A rs28500662 0.03261
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_001130987.2(DYSF):c.460+82C>T rs79084610 0.03125
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_001130987.2(DYSF):c.4222-20G>A rs111935215 0.02442
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_001130987.2(DYSF):c.2410-117A>G rs72827550 0.02151
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806 0.01043
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly) rs61738567 0.00775
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00342
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119 0.00327
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624 0.00021
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp) rs749002214 0.00003
NM_001130987.2(DYSF):c.432G>A (p.Pro144=) rs542176164 0.00003
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.3229-61G>C rs57041989
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.460+2T>G rs750356247
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029

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