ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 450
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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.1609G>A (p.Gly537Arg) rs121908962 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.3931C>T (p.Gln1311Ter) rs1324430830 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.(?_71708989)_(71709120_?)del
NC_000002.11:g.(?_71730324)_(71730469_?)del
NC_000002.11:g.(?_71740826)_(71913622_?)del
NC_000002.11:g.(?_71740967)_(71749805_?)del
NC_000002.11:g.(?_71762131)_(71766389_?)del
NC_000002.11:g.(?_71783075)_(71783221_?)del
NC_000002.11:g.(?_71783075)_(71817438_?)del
NC_000002.11:g.(?_71783085)_(71913729_?)del
NC_000002.11:g.(?_71793585)_(71797846_?)del
NC_000002.11:g.(?_71793586)_(71797845_?)del
NC_000002.11:g.(?_71795061)_(71801521_?)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.(?_71895864)_(71901446_?)del
NC_000002.11:g.(?_71900503)_(71913622_?)del
NC_000002.11:g.(?_71906167)_(71906385_?)del
NC_000002.11:g.(?_71908111)_(71908260_?)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.1003-3C>A rs2087101244
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.1117_1126del (p.Leu373fs)
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+5G>C rs766433603
NM_001130987.2(DYSF):c.1276_1276+7del rs2152748721
NM_001130987.2(DYSF):c.1277-2A>C rs1553531682
NM_001130987.2(DYSF):c.1277-2A>G
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.135del (p.Val46fs)
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.1493+5G>C
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.1722_1723insGTT (p.Leu574_Leu575insVal) rs1446214240
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.2344G>T (p.Glu782Ter) rs886043901
NM_001130987.2(DYSF):c.2350_2351insTGCAGCTCTGGAG (p.Pro784fs)
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.2546_2547insCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCACCTCTTCCCGGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTGTGGGAAGCT (p.Leu849_Gln850insSerLeuGluSerGluGluArgLeuArgProAlaAlaIleProSerArgLysTer)
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.3028T>C (p.Trp1010Arg) rs750028300
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.3090G>A (p.Trp1030Ter)
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.3228+1G>T
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.3378_3385delinsCACTGGAGAAGACGGGGCC (p.Val1127fs)
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>A (p.Lys1637=) rs141704244
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.4999G>A (p.Gly1667Arg)
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.5210C>G (p.Pro1737Arg) rs776452710
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.5557del (p.Arg1853fs)
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.561del (p.Gly188fs)
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.5785-824C>T rs1285082850
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.584del (p.Gln195fs)
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.6139G>T (p.Glu2047Ter) rs886043489
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.6205_6206del (p.Ser2069fs)
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.759G>C (p.Gln253His) rs886044472
NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)
NM_001130987.2(DYSF):c.799del (p.Gly266_Val267insTer)
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

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