ClinVar Miner

List of variants in gene DYSF reported as pathogenic for Qualitative or quantitative defects of dysferlin

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 413
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00003
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs) rs778065845 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053 0.00003
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.1380+2T>C rs398123765 0.00002
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter) rs199543257 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.3403-2A>G rs370874727 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter) rs1131691651 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1494G>A (p.Trp498Ter) rs141400095 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.1985-1G>T rs2091139939 0.00001
NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter) rs756258757 0.00001
NM_001130987.2(DYSF):c.2217-2A>G rs747289205 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter) rs398123776 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs) rs748542672 0.00001
NM_001130987.2(DYSF):c.3496+1G>A rs1486303961 0.00001
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) rs886042091 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.3824G>A (p.Trp1275Ter) rs1553376538 0.00001
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter) rs763674597 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg) rs776472879 0.00001
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter) rs769721856 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter) rs1476505138 0.00001
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln) rs779987458 0.00001
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) rs886044422 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5458-1G>A rs886042879 0.00001
NM_001130987.2(DYSF):c.5458-2A>C rs398123792 0.00001
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys) rs1280185461 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.5761C>T (p.Gln1921Ter) rs398123795 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.5884+1G>A rs756689063 0.00001
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter) rs1553420848 0.00001
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs) rs886042318 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963 0.00001
NC_000002.11:g.(?_71681119)_(71694073_?)del
NC_000002.11:g.(?_71707993)_(71709120_?)del
NC_000002.11:g.(?_71730324)_(71730469_?)del
NC_000002.11:g.(?_71740967)_(71749805_?)del
NC_000002.11:g.(?_71783085)_(71913729_?)del
NC_000002.11:g.(?_71793585)_(71797846_?)del
NC_000002.11:g.(?_71801318)_(71801511_?)del
NC_000002.11:g.(?_71827822)_(71827982_?)del
NC_000002.11:g.(?_71838365)_(71840553_?)del
NC_000002.11:g.(?_71900503)_(71913622_?)del
NC_000002.12:g.(?_71480873)_(71481980_?)del
NC_000002.12:g.(?_71567941)_(71570344_?)del
NC_000002.12:g.(?_71679047)_(71679245_?)del
NC_000002.12:g.71480885del
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)
NM_001130987.2(DYSF):c.108del (p.Val38fs) rs1320173977
NM_001130987.2(DYSF):c.1093_1094del (p.Ala365fs) rs1553525756
NM_001130987.2(DYSF):c.1104_1105del (p.Leu369fs)
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1117del (p.Leu373fs) rs2087187562
NM_001130987.2(DYSF):c.1117dup (p.Leu373fs) rs2087187562
NM_001130987.2(DYSF):c.1141G>T (p.Glu381Ter)
NM_001130987.2(DYSF):c.1192del (p.Ser398fs) rs2087887269
NM_001130987.2(DYSF):c.1212_1236del (p.Gly405fs) rs2152748581
NM_001130987.2(DYSF):c.1213_1250del (p.Gly405fs) rs1474253061
NM_001130987.2(DYSF):c.1216_1219dup (p.Ala407fs)
NM_001130987.2(DYSF):c.1258del (p.Ala420fs) rs779969348
NM_001130987.2(DYSF):c.1260del (p.Glu421fs) rs1559079887
NM_001130987.2(DYSF):c.1261G>T (p.Glu421Ter)
NM_001130987.2(DYSF):c.1271del (p.Pro424fs) rs2152748702
NM_001130987.2(DYSF):c.1276+1G>C
NM_001130987.2(DYSF):c.1276+2T>A
NM_001130987.2(DYSF):c.1276_1276+7del rs2152748721
NM_001130987.2(DYSF):c.1277-2A>C rs1553531682
NM_001130987.2(DYSF):c.128dup (p.Asn44fs)
NM_001130987.2(DYSF):c.1308_1309del (p.Gln436fs)
NM_001130987.2(DYSF):c.1350del (p.Phe451fs) rs766936914
NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg) rs886042093
NM_001130987.2(DYSF):c.1374dup (p.Lys459fs)
NM_001130987.2(DYSF):c.1380+1G>C rs2152751353
NM_001130987.2(DYSF):c.1381-2A>G rs786200897
NM_001130987.2(DYSF):c.1410_1411del (p.Asn471fs)
NM_001130987.2(DYSF):c.1417C>T (p.Gln473Ter)
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.147+1G>A rs2082833010
NM_001130987.2(DYSF):c.1471dup (p.Met491fs) rs1236367931
NM_001130987.2(DYSF):c.1472_1473del (p.Met491fs) rs2152761337
NM_001130987.2(DYSF):c.148-1G>A rs2082940446
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1491del (p.Trp498fs)
NM_001130987.2(DYSF):c.1501del (p.Arg500_Leu501insTer) rs2089677596
NM_001130987.2(DYSF):c.1515del (p.Asp505fs)
NM_001130987.2(DYSF):c.1536_1539del (p.Ser513fs) rs774402454
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter) rs139258703
NM_001130987.2(DYSF):c.1560del (p.Gly521fs) rs1456182703
NM_001130987.2(DYSF):c.1567G>T (p.Glu523Ter) rs2089684117
NM_001130987.2(DYSF):c.1576+1del rs1553537332
NM_001130987.2(DYSF):c.1577-1655C>G rs886044410
NM_001130987.2(DYSF):c.1577-1G>A rs189923208
NM_001130987.2(DYSF):c.1577-2A>G rs1553542142
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.1632del (p.Leu543_Tyr544insTer)
NM_001130987.2(DYSF):c.1674del (p.Glu559fs)
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.1692+1G>A rs1319833991
NM_001130987.2(DYSF):c.1692+1G>C
NM_001130987.2(DYSF):c.1710del (p.Arg571fs) rs2090953993
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter) rs886042633
NM_001130987.2(DYSF):c.1766_1767insTTCT (p.Lys589fs) rs1553542773
NM_001130987.2(DYSF):c.1778_1782dup (p.Ala595fs) rs2152788089
NM_001130987.2(DYSF):c.178del (p.Leu60fs) rs1558967217
NM_001130987.2(DYSF):c.179del (p.Leu60fs) rs2152682705
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.1834_1835del (p.Leu612fs) rs1559141367
NM_001130987.2(DYSF):c.1860del (p.Met621fs) rs2091068134
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) rs121908953
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.1922del (p.Lys641fs) rs1573943246
NM_001130987.2(DYSF):c.1965C>A (p.Tyr655Ter) rs759841019
NM_001130987.2(DYSF):c.1984+2T>C rs2152791033
NM_001130987.2(DYSF):c.1985-2A>G
NM_001130987.2(DYSF):c.2002del (p.Leu668fs)
NM_001130987.2(DYSF):c.2070del (p.Ile690fs) rs1573949142
NM_001130987.2(DYSF):c.2077C>T (p.Gln693Ter) rs2152792645
NM_001130987.2(DYSF):c.2131del (p.His711fs)
NM_001130987.2(DYSF):c.2149C>T (p.Gln717Ter) rs1320536163
NM_001130987.2(DYSF):c.2200_2205delinsGCTCA (p.Leu734fs) rs2091313766
NM_001130987.2(DYSF):c.2217-1G>T rs886044379
NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter) rs1172643225
NM_001130987.2(DYSF):c.2278C>T (p.Gln760Ter)
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter) rs398123773
NM_001130987.2(DYSF):c.2398del (p.Leu800fs)
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2426dup (p.Asp810fs) rs752479889
NM_001130987.2(DYSF):c.2442G>A (p.Trp814Ter) rs2091945455
NM_001130987.2(DYSF):c.2476dup (p.Arg826fs)
NM_001130987.2(DYSF):c.2483_2484dup (p.Ala829fs)
NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs) rs755849745
NM_001130987.2(DYSF):c.2566-1495_3202del
NM_001130987.2(DYSF):c.2566-1496_3203del
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) rs2092204417
NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter) rs780129376
NM_001130987.2(DYSF):c.2624G>A (p.Trp875Ter) rs2152811000
NM_001130987.2(DYSF):c.2628del (p.Phe876fs)
NM_001130987.2(DYSF):c.2635_2636del (p.Val880fs) rs2152811004
NM_001130987.2(DYSF):c.2648dup (p.Glu884fs) rs2092209876
NM_001130987.2(DYSF):c.2684del (p.Val895fs)
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.2697+1G>C rs140108514
NM_001130987.2(DYSF):c.2707G>T (p.Glu903Ter) rs770997582
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs) rs1559177278
NM_001130987.2(DYSF):c.2781del (p.Lys928fs)
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2857G>T (p.Glu953Ter)
NM_001130987.2(DYSF):c.2864+5G>A rs886044131
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.2865-2A>G
NM_001130987.2(DYSF):c.2888del (p.Gly963fs)
NM_001130987.2(DYSF):c.2891del (p.His964fs)
NM_001130987.2(DYSF):c.2900_2906del (p.Ser966_Phe967insTer)
NM_001130987.2(DYSF):c.2905G>T (p.Glu969Ter) rs2152813970
NM_001130987.2(DYSF):c.2912dup (p.Phe972fs) rs2092323164
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs) rs398123777
NM_001130987.2(DYSF):c.2955dup (p.Met986fs) rs2152814060
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter) rs2092340623
NM_001130987.2(DYSF):c.2994del (p.Leu999fs) rs2092340996
NM_001130987.2(DYSF):c.3018_3019delinsAA (p.Cys1006_Pro1007delinsTer) rs2152814567
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) rs2092343409
NM_001130987.2(DYSF):c.3050G>A (p.Trp1017Ter) rs2152814618
NM_001130987.2(DYSF):c.306del (p.Phe102fs) rs2085171684
NM_001130987.2(DYSF):c.3085+1G>A rs1553555585
NM_001130987.2(DYSF):c.3085+2T>C rs886042951
NM_001130987.2(DYSF):c.3091del (p.Glu1031fs)
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3107del (p.Ile1036fs)
NM_001130987.2(DYSF):c.3113dup (p.Glu1039fs) rs753711667
NM_001130987.2(DYSF):c.3115dup (p.Glu1039fs)
NM_001130987.2(DYSF):c.3159C>A (p.Tyr1053Ter)
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3167G>C (p.Arg1056Pro)
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.2(DYSF):c.3203_3204del (p.Leu1068fs) rs1260279185
NM_001130987.2(DYSF):c.3228+1G>A rs2092371566
NM_001130987.2(DYSF):c.3228+1G>C rs2092371566
NM_001130987.2(DYSF):c.3251dup (p.Glu1085fs) rs2152822956
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) rs1252415299
NM_001130987.2(DYSF):c.3257del (p.Gly1086fs)
NM_001130987.2(DYSF):c.3274_3275del (p.Leu1092fs) rs1574097294
NM_001130987.2(DYSF):c.3279dup (p.Gly1094fs)
NM_001130987.2(DYSF):c.3284G>A (p.Trp1095Ter) rs794727534
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del) rs1553361884
NM_001130987.2(DYSF):c.3334T>A (p.Trp1112Arg)
NM_001130987.2(DYSF):c.3334_3345del (p.Trp1112_Arg1115del)
NM_001130987.2(DYSF):c.3336G>A (p.Trp1112Ter)
NM_001130987.2(DYSF):c.3336del (p.Trp1112fs)
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter) rs1558513494
NM_001130987.2(DYSF):c.3391G>T (p.Glu1131Ter)
NM_001130987.2(DYSF):c.3407del (p.Gly1136fs)
NM_001130987.2(DYSF):c.341del (p.Thr114fs)
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.345+1G>A
NM_001130987.2(DYSF):c.345+1G>C
NM_001130987.2(DYSF):c.345+1G>T rs2152715844
NM_001130987.2(DYSF):c.345+2T>C rs2152715847
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3517del (p.Arg1173fs) rs2093220811
NM_001130987.2(DYSF):c.3540_3541del (p.Asp1181fs) rs2152843443
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs) rs886042827
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) rs766341386
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
NM_001130987.2(DYSF):c.3575-1G>A rs2093462674
NM_001130987.2(DYSF):c.3575-1G>C
NM_001130987.2(DYSF):c.3575-2A>G rs2152855735
NM_001130987.2(DYSF):c.359T>C (p.Leu120Pro)
NM_001130987.2(DYSF):c.361C>T (p.Gln121Ter) rs1423123313
NM_001130987.2(DYSF):c.3648del (p.Trp1217fs)
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter) rs1380642629
NM_001130987.2(DYSF):c.3741C>A (p.Tyr1247Ter) rs375160101
NM_001130987.2(DYSF):c.3756T>A (p.Tyr1252Ter) rs141720146
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3786_3787del (p.Ile1262fs) rs1558583697
NM_001130987.2(DYSF):c.3838_3841del (p.Arg1280fs)
NM_001130987.2(DYSF):c.3842del (p.Gly1281fs) rs2093531358
NM_001130987.2(DYSF):c.3842dup (p.Ser1282fs)
NM_001130987.2(DYSF):c.3847C>T (p.Gln1283Ter)
NM_001130987.2(DYSF):c.3859del (p.Glu1287fs)
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) rs779407815
NM_001130987.2(DYSF):c.3863T>G (p.Leu1288Arg) rs886042828
NM_001130987.2(DYSF):c.3897+1G>A rs1553376691
NM_001130987.2(DYSF):c.3897+1G>T
NM_001130987.2(DYSF):c.389del (p.Ala130fs)
NM_001130987.2(DYSF):c.4021C>T (p.Gln1341Ter) rs147950418
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter) rs778092738
NM_001130987.2(DYSF):c.404_416del (p.Pro135fs) rs2152728683
NM_001130987.2(DYSF):c.4059+1G>A rs1229707459
NM_001130987.2(DYSF):c.4071G>A (p.Trp1357Ter) rs1424374529
NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)
NM_001130987.2(DYSF):c.410del (p.Pro137fs) rs886043342
NM_001130987.2(DYSF):c.410dup (p.Thr138fs) rs886043342
NM_001130987.2(DYSF):c.4114del (p.Ser1372fs) rs2093761171
NM_001130987.2(DYSF):c.4141_4142del (p.Gly1381fs)
NM_001130987.2(DYSF):c.4142dup (p.Gln1382fs)
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter) rs1574340403
NM_001130987.2(DYSF):c.4177del (p.Arg1393fs) rs2152875407
NM_001130987.2(DYSF):c.4188del (p.Asn1397fs)
NM_001130987.2(DYSF):c.4221+1G>C rs1474151297
NM_001130987.2(DYSF):c.4221+1G>T
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter) rs971134497
NM_001130987.2(DYSF):c.4254del (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4325_4328dup (p.Glu1444fs)
NM_001130987.2(DYSF):c.4344_4345del (p.Cys1448_Asp1449delinsTer)
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) rs576130413
NM_001130987.2(DYSF):c.4418_4419dup (p.Val1474fs) rs1574354166
NM_001130987.2(DYSF):c.4434_4435insTTTTTTTTNNNNNNNNNNTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTCATCGACATT (p.Asp1479delinsPhePheXaaXaaXaaXaaPheSerArgAspGlyLeuAspLeuLeuThrSerTer) rs2152878049
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter) rs1574354515
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4554del (p.Ser1518fs) rs2152924667
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter) rs886042635
NM_001130987.2(DYSF):c.4586del (p.Lys1529fs)
NM_001130987.2(DYSF):c.4590C>A (p.Cys1530Ter) rs778185705
NM_001130987.2(DYSF):c.4621del (p.Thr1540_Leu1541insTer)
NM_001130987.2(DYSF):c.4639C>T (p.Gln1547Ter)
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs) rs1553408378
NM_001130987.2(DYSF):c.4680_4681del (p.Phe1560fs)
NM_001130987.2(DYSF):c.4706del (p.Gly1569fs)
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter) rs1573009747
NM_001130987.2(DYSF):c.4848del (p.Glu1616fs) rs2152941075
NM_001130987.2(DYSF):c.4862del (p.Ile1621fs)
NM_001130987.2(DYSF):c.4909A>T (p.Lys1637Ter) rs1558750788
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs) rs1057516051
NM_001130987.2(DYSF):c.4954del (p.Ser1652fs) rs772270346
NM_001130987.2(DYSF):c.4969del (p.Tyr1657fs)
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter) rs2094861411
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) rs786200896
NM_001130987.2(DYSF):c.5000G>T (p.Gly1667Val) rs1573020369
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5025_5053dup (p.Thr1685delinsIleCysLeuTrpArgArgThrTer) rs2152950672
NM_001130987.2(DYSF):c.5061T>G (p.Tyr1687Ter)
NM_001130987.2(DYSF):c.5085_5089dup (p.Lys1697fs) rs2152950744
NM_001130987.2(DYSF):c.5086G>T (p.Glu1696Ter) rs368142107
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg)
NM_001130987.2(DYSF):c.5150G>A (p.Cys1717Tyr) rs753279446
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) rs753279446
NM_001130987.2(DYSF):c.5169C>A (p.Tyr1723Ter)
NM_001130987.2(DYSF):c.5174+5G>A rs745891180
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) rs1558771348
NM_001130987.2(DYSF):c.5211del (p.Ser1738fs) rs2152951747
NM_001130987.2(DYSF):c.5247_5248del (p.Arg1749fs)
NM_001130987.2(DYSF):c.5251_5258del (p.Lys1751fs) rs2152951812
NM_001130987.2(DYSF):c.5298del (p.Glu1766fs) rs2152951851
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter) rs762398889
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter) rs727503912
NM_001130987.2(DYSF):c.5389C>T (p.Gln1797Ter)
NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs) rs769873428
NM_001130987.2(DYSF):c.5440C>T (p.Gln1814Ter)
NM_001130987.2(DYSF):c.5467C>T (p.Gln1823Ter) rs1553415109
NM_001130987.2(DYSF):c.5514_5515insA (p.Pro1839fs) rs2152955557
NM_001130987.2(DYSF):c.5531del (p.Pro1844fs) rs1553415211
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5547-1G>C rs1573094617
NM_001130987.2(DYSF):c.5547-2A>G rs1238293747
NM_001130987.2(DYSF):c.5563del (p.Ile1855fs)
NM_001130987.2(DYSF):c.5571G>A (p.Trp1857Ter) rs1573094789
NM_001130987.2(DYSF):c.5578A>T (p.Arg1860Ter) rs2152955939
NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter) rs201592500
NM_001130987.2(DYSF):c.5620A>G (p.Met1874Val) rs1553415622
NM_001130987.2(DYSF):c.5635del (p.Tyr1878_Val1879insTer)
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter) rs886043966
NM_001130987.2(DYSF):c.5671C>T (p.Gln1891Ter) rs2152956531
NM_001130987.2(DYSF):c.5687A>G (p.His1896Arg)
NM_001130987.2(DYSF):c.5711del (p.Gly1904fs) rs786205081
NM_001130987.2(DYSF):c.5718C>A (p.Phe1906Leu) rs1233961202
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu) rs1233961202
NM_001130987.2(DYSF):c.5724G>A (p.Trp1908Ter) rs1558787893
NM_001130987.2(DYSF):c.5743dup (p.Asp1915fs)
NM_001130987.2(DYSF):c.5763del (p.Val1922fs) rs1553416197
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.578_579del (p.Glu193fs)
NM_001130987.2(DYSF):c.5796G>A (p.Trp1932Ter) rs267599442
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5830_5843del (p.Arg1944fs)
NM_001130987.2(DYSF):c.5843del (p.Gln1948fs)
NM_001130987.2(DYSF):c.5871del (p.Phe1957fs)
NM_001130987.2(DYSF):c.5893C>T (p.Gln1965Ter) rs2152967730
NM_001130987.2(DYSF):c.5938A>T (p.Lys1980Ter) rs1553420738
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.5976_5977inv (p.Glu1993Ter)
NM_001130987.2(DYSF):c.5988_5989del (p.Ser1997fs)
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001130987.2(DYSF):c.6022dup (p.Trp2008fs) rs2152967880
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.6056_6057del (p.Ile2019fs)
NM_001130987.2(DYSF):c.6057dup (p.Leu2020fs) rs2152967906
NM_001130987.2(DYSF):c.6125G>A (p.Gly2042Asp) rs1395588065
NM_001130987.2(DYSF):c.6141_6151del (p.Pro2048_Asn2049insTer) rs1558817973
NM_001130987.2(DYSF):c.6166del (p.Asp2056fs) rs1397263011
NM_001130987.2(DYSF):c.6170del (p.Pro2057fs) rs2152970089
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter) rs1553521017
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter) rs1553422709
NM_001130987.2(DYSF):c.6334A>G (p.Met2112Val) rs2152976526
NM_001130987.2(DYSF):c.653dup (p.Arg219fs) rs2152731820
NM_001130987.2(DYSF):c.668C>A (p.Ser223Ter) rs2152731856
NM_001130987.2(DYSF):c.700del (p.Arg234fs)
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter) rs886044381
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala) rs1573658295
NM_001130987.2(DYSF):c.869dup (p.Asn290fs)
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_001130987.2(DYSF):c.888+2T>A rs886042970
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs) rs1553522104
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs) rs1337417322
NM_001130987.2(DYSF):c.922G>T (p.Glu308Ter)
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_001130987.2(DYSF):c.923del (p.Glu308fs) rs2086635842
NM_001130987.2(DYSF):c.951+1del rs786200898
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val) rs1553522751
NM_001130987.2(DYSF):c.959dup (p.Asp320fs)
NM_001130987.2(DYSF):c.975_979dup (p.Asp327fs)
NM_001130987.2(DYSF):c.98del (p.Lys33fs)
NM_001130987.2(DYSF):c.991G>C (p.Gly331Arg) rs121908963
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs) rs1553370437
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003494.4(DYSF):c.1642del rs398123772
NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter) rs2080944539
NM_003494.4(DYSF):c.2T>C (p.Met1Thr) rs1459713589
NM_003494.4(DYSF):c.59_68del (p.Ser20fs) rs1420619668

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.