ClinVar Miner

List of variants in gene DYSF reported as pathogenic for not provided

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Gene type:
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Total variants: 164
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HGVS dbSNP
NM_001130987.1(DYSF):c.1696dup (p.Glu566Glyfs) rs398123772
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.1033+1G>A rs201869739
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.1149+5G>A rs1023002894
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1260del (p.Glu421fs) rs1559079887
NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter) rs1131691651
NM_001130987.2(DYSF):c.1274_1276+4dup rs1553530017
NM_001130987.2(DYSF):c.1276+5G>A rs766433603
NM_001130987.2(DYSF):c.1380+2T>C rs398123765
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1493G>A (p.Trp498Ter) rs1559100639
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.1494-2A>G rs398123769
NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu) rs886044537
NM_001130987.2(DYSF):c.1577-1692G>A rs398123770
NM_001130987.2(DYSF):c.1589_1592dup (p.Phe532fs) rs1559136308
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.1692+2T>A rs398123771
NM_001130987.2(DYSF):c.1693-6T>A rs886039573
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) rs121908953
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.1985-2del rs774047700
NM_001130987.2(DYSF):c.2217-2A>G rs747289205
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter) rs398123773
NM_001130987.2(DYSF):c.2378G>A (p.Trp793Ter) rs1559162681
NM_001130987.2(DYSF):c.2409+1G>A rs151317754
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2426dup (p.Asp810fs) rs752479889
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs) rs1559177278
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter) rs398123776
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs) rs398123777
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958
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.3379_3380GT[1] (p.Phe1128fs) rs398123780
NM_001130987.2(DYSF):c.3403-2A>G rs370874727
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs) rs748542672
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) rs886042091
NM_001130987.2(DYSF):c.3564_3565CT[1] (p.Ser1189fs) rs886042827
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782
NM_001130987.2(DYSF):c.3695del (p.Pro1232fs) rs398123783
NM_001130987.2(DYSF):c.3786_3787del (p.Ile1262fs) rs1558583697
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911
NM_001130987.2(DYSF):c.396_397del (p.Leu133fs) rs398123784
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606
NM_001130987.2(DYSF):c.410del (p.Pro137fs) rs886043342
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4768del (p.Ile1590fs) rs1179051248
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs) rs778065845
NM_001130987.2(DYSF):c.4843C>T (p.Gln1615Ter) rs1163488527
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) rs786200896
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5011G>T (p.Glu1671Ter) rs398123790
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) rs886044422
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter) rs727503912
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs) rs769873428
NM_001130987.2(DYSF):c.5458-2A>C rs398123792
NM_001130987.2(DYSF):c.5546+1G>T rs398123793
NM_001130987.2(DYSF):c.5546+2T>A rs1553415233
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter) rs201592500
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter) rs886043966
NM_001130987.2(DYSF):c.5761C>T (p.Gln1921Ter) rs398123795
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5813_5814AG[1] (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
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.6063+1G>A rs398123798
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs) rs886042318
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001130987.2(DYSF):c.682dup (p.His228fs) rs886042680
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) rs794727851
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_003494.3(DYSF):c.1642delG (p.Glu548Lysfs) rs398123772
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs) rs1553370437
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_003494.3(DYSF):c.3516_3517delTT rs766341386
NM_003494.4(DYSF):c.1071del (p.Ser358fs) rs886044355
NM_003494.4(DYSF):c.1171_1180+4dup rs1553529974
NM_003494.4(DYSF):c.1276G>A (p.Gly426Arg) rs886042093
NM_003494.4(DYSF):c.1354-3_1354-2del rs886043328
NM_003494.4(DYSF):c.1480+1G>A rs886044258
NM_003494.4(DYSF):c.1517C>G (p.Ser506Ter) rs886044410
NM_003494.4(DYSF):c.1523-1G>A rs189923208
NM_003494.4(DYSF):c.1708C>T (p.Gln570Ter) rs886042633
NM_003494.4(DYSF):c.1956G>A (p.Trp652Ter) rs794727343
NM_003494.4(DYSF):c.2034del (p.Ile681fs) rs886044390
NM_003494.4(DYSF):c.2163-1G>T rs886044379
NM_003494.4(DYSF):c.2248C>T (p.Gln750Ter) rs1027145211
NM_003494.4(DYSF):c.2290G>T (p.Glu764Ter) rs886043901
NM_003494.4(DYSF):c.2352_2355+1del rs398123774
NM_003494.4(DYSF):c.2496_2499del (p.Thr833fs) rs755849745
NM_003494.4(DYSF):c.2772G>A (p.Trp924Ter) rs1553553888
NM_003494.4(DYSF):c.2810+2T>A rs1553553943
NM_003494.4(DYSF):c.2894G>A (p.Trp965Ter) rs1268594965
NM_003494.4(DYSF):c.3031+2T>C rs886042951
NM_003494.4(DYSF):c.3230G>A (p.Trp1077Ter) rs794727534
NM_003494.4(DYSF):c.3429del (p.Cys1144fs) rs886042632
NM_003494.4(DYSF):c.3517dup (p.Ser1173fs) rs766341386
NM_003494.4(DYSF):c.3703-2A>G rs886043149
NM_003494.4(DYSF):c.3770G>A (p.Trp1257Ter) rs1553376538
NM_003494.4(DYSF):c.3887C>G (p.Ser1296Ter) rs1553377740
NM_003494.4(DYSF):c.4081T>C (p.Cys1361Arg) rs776472879
NM_003494.4(DYSF):c.4090C>T (p.Gln1364Ter) rs886042095
NM_003494.4(DYSF):c.4228C>T (p.Gln1410Ter) rs769721856
NM_003494.4(DYSF):c.4263dup (p.Ile1422fs) rs1553383144
NM_003494.4(DYSF):c.4459G>T (p.Glu1487Ter) rs886042635
NM_003494.4(DYSF):c.4497del (p.Phe1499fs) rs886042578
NM_003494.4(DYSF):c.4794+1G>T rs777216777
NM_003494.4(DYSF):c.4887-1G>A rs886043170
NM_003494.4(DYSF):c.5057+1G>A rs886042581
NM_003494.4(DYSF):c.5341-1G>A rs886042879
NM_003494.4(DYSF):c.5646del (p.Val1883fs) rs1553416197
NM_003494.4(DYSF):c.5767+1G>A
NM_003494.4(DYSF):c.5821A>T (p.Lys1941Ter) rs1553420738
NM_003494.4(DYSF):c.5947-1G>C rs886042636
NM_003494.4(DYSF):c.6022G>T (p.Glu2008Ter) rs886043489
NM_003494.4(DYSF):c.6216del (p.Ala2072_Met2073insTer) rs886043884
NM_003494.4(DYSF):c.661C>T (p.Gln221Ter) rs886044381
NM_003494.4(DYSF):c.792+2T>A rs886042970
NM_003494.4(DYSF):c.793-2A>G rs934428561
NM_003494.4(DYSF):c.855+2T>G rs886042590
NM_003494.4(DYSF):c.899del (p.Glu300fs) rs886044386
NM_003494.4(DYSF):c.937+2T>C rs886042617
NM_003494.4(DYSF):c.997_998del (p.Ala333fs) rs1553525756

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