ClinVar Miner

List of variants in gene DYSF reported as likely pathogenic for Miyoshi muscular dystrophy 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 267
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00025
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 0.00007
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00005
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 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.1261G>A (p.Glu421Lys) rs778673716 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 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.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.3391G>T (p.Glu1131Ter) rs1231906656 0.00001
NM_001130987.2(DYSF):c.4387+2T>C rs759939755 0.00001
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) rs576130413 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.4755+1G>A rs754039882 0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) rs1156805286 0.00001
NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter) rs1476505138 0.00001
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) rs886044422 0.00001
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter) rs1342179740 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.5784+1G>A rs909564120 0.00001
NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter) rs1573138313 0.00001
NM_001130987.2(DYSF):c.5885-1G>C rs771257070 0.00001
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141 0.00001
NM_001130987.2(DYSF):c.889-2A>G rs934428561 0.00001
NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter) rs2080944539 0.00001
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.1002+1G>A rs2545428157
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.1067C>G (p.Ser356Ter) rs1289536335
NM_001130987.2(DYSF):c.1110_1117dup (p.Leu373fs)
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1141G>T (p.Glu381Ter) rs1301200599
NM_001130987.2(DYSF):c.1149+1G>C rs398123763
NM_001130987.2(DYSF):c.1149+3G>C rs1573704236
NM_001130987.2(DYSF):c.1150-2A>G
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter) rs2545491750
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter) rs2082829594
NM_001130987.2(DYSF):c.1192del (p.Ser398fs) rs2087887269
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer) rs2545492351
NM_001130987.2(DYSF):c.1264_1276+1dup rs746745779
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter) rs2087900330
NM_001130987.2(DYSF):c.1272_1276+3dup rs1559080091
NM_001130987.2(DYSF):c.1274_1276+4dup rs768425085
NM_001130987.2(DYSF):c.1276+5G>C rs766433603
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter) rs2089169741
NM_001130987.2(DYSF):c.1449+1G>A rs1553535902
NM_001130987.2(DYSF):c.1475_1477del (p.Arg492del) rs2152761340
NM_001130987.2(DYSF):c.1493+1G>T
NM_001130987.2(DYSF):c.1494-1G>C rs398123768
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs) rs2545584373
NM_001130987.2(DYSF):c.1577-1655C>G rs886044410
NM_001130987.2(DYSF):c.1577-21_1586delinsGGCTT rs2545668182
NM_001130987.2(DYSF):c.1595del (p.Phe532fs) rs2545668446
NM_001130987.2(DYSF):c.1597del (p.Leu533fs) rs2545668456
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter) rs2090909751
NM_001130987.2(DYSF):c.1625del (p.Asn542fs) rs2152786967
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs) rs2545668961
NM_001130987.2(DYSF):c.1686del (p.Gly563fs) rs2545669126
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter) rs886042633
NM_001130987.2(DYSF):c.1806+1G>T rs1216569807
NM_001130987.2(DYSF):c.1806+2T>A
NM_001130987.2(DYSF):c.1807-2A>G rs2545685225
NM_001130987.2(DYSF):c.181del (p.Asp61fs) rs2467184232
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs) rs2545685563
NM_001130987.2(DYSF):c.1902C>A (p.Ser634Arg) rs1573943032
NM_001130987.2(DYSF):c.1914C>G (p.Tyr638Ter) rs35721373
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter) rs2082945195
NM_001130987.2(DYSF):c.1984+1G>A
NM_001130987.2(DYSF):c.1984+2T>A rs2152791033
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter) rs2545694520
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter) rs2091142154
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter) rs2091144091
NM_001130987.2(DYSF):c.2110-1G>A rs1228463747
NM_001130987.2(DYSF):c.2203del (p.Ile735fs)
NM_001130987.2(DYSF):c.2217-1G>A rs886044379
NM_001130987.2(DYSF):c.221del (p.Glu74fs)
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs) rs2545752835
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter) rs369209261
NM_001130987.2(DYSF):c.2253del (p.Thr752fs) rs2545752931
NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter) rs1172643225
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs) rs2545753088
NM_001130987.2(DYSF):c.2310dup (p.Glu771Ter) rs2545753329
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs) rs2545753525
NM_001130987.2(DYSF):c.240-2del
NM_001130987.2(DYSF):c.2484dup (p.Ala829fs)
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter) rs2545770353
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter) rs2091951931
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) rs2092204417
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter) rs2092205152
NM_001130987.2(DYSF):c.2628del (p.Phe876fs) rs2545798028
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter) rs2092208616
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter) rs2092209337
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs) rs2545798157
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter) rs2092210085
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter) rs2092211777
NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro) rs1574042462
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter) rs1324029651
NM_001130987.2(DYSF):c.2807dup (p.Arg937fs) rs2545800105
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter) rs2545800359
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter) rs2092231526
NM_001130987.2(DYSF):c.2888del (p.Gly963fs) rs2545814877
NM_001130987.2(DYSF):c.2947del (p.Trp983fs) rs2545815337
NM_001130987.2(DYSF):c.2964del (p.Asp988fs) rs2545815498
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter) rs2092340623
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter) rs763925689
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter) rs2545819541
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) rs2092343409
NM_001130987.2(DYSF):c.3085+1G>T rs1553555585
NM_001130987.2(DYSF):c.3086-11_3105dup
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter) rs1424933941
NM_001130987.2(DYSF):c.3107dup (p.Glu1039fs)
NM_001130987.2(DYSF):c.3127A>T (p.Lys1043Ter)
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter) rs2545823705
NM_001130987.2(DYSF):c.3157_3158del (p.Tyr1053fs) rs2545823906
NM_001130987.2(DYSF):c.3164_3165del (p.His1055fs) rs2545823922
NM_001130987.2(DYSF):c.316del (p.Leu106fs) rs2545295422
NM_001130987.2(DYSF):c.3173_3177del (p.Arg1058fs) rs2545824104
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter) rs2092369130
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs) rs2545295522
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs) rs2545824574
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs) rs2545295529
NM_001130987.2(DYSF):c.3228+2T>C rs2545824673
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter) rs1666836481
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs) rs2152822956
NM_001130987.2(DYSF):c.3251dup (p.Glu1085fs) rs2152822956
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) rs1252415299
NM_001130987.2(DYSF):c.3260G>A (p.Trp1087Ter) rs2545875669
NM_001130987.2(DYSF):c.3270_3282del (p.Ser1091fs) rs2545875803
NM_001130987.2(DYSF):c.3332_3353dup (p.Glu1120fs)
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg) rs2545876644
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs) rs2545877072
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs) rs398123780
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3517del (p.Arg1173fs) rs2093220811
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter) rs2093222376
NM_001130987.2(DYSF):c.3575-1G>C rs2093462674
NM_001130987.2(DYSF):c.3620_3621del (p.Val1207fs)
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter) rs2093464314
NM_001130987.2(DYSF):c.3666del (p.Phe1223fs) rs2546046402
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs) rs2546046409
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) rs143393575
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter) rs773773555
NM_001130987.2(DYSF):c.3812del (p.Pro1271fs) rs2546061360
NM_001130987.2(DYSF):c.3842dup (p.Ser1282fs) rs2093531358
NM_001130987.2(DYSF):c.3894_3895dup (p.Lys1299fs) rs1558584694
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter) rs1462064763
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs) rs2546126754
NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly) rs199870606
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs) rs2545377069
NM_001130987.2(DYSF):c.410del (p.Pro137fs) rs886043342
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter) rs1574340403
NM_001130987.2(DYSF):c.431del (p.Pro144fs) rs2545377387
NM_001130987.2(DYSF):c.4328dup (p.Glu1444fs) rs2546143605
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs) rs2546143826
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs) rs2546143809
NM_001130987.2(DYSF):c.4379_4382del (p.Gly1460fs) rs2546144322
NM_001130987.2(DYSF):c.4385dup (p.Asp1463fs)
NM_001130987.2(DYSF):c.4528-2del rs1401992478
NM_001130987.2(DYSF):c.4528-5C>G rs774448845
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs) rs2546398160
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr) rs398123788
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter) rs2546398668
NM_001130987.2(DYSF):c.460+2T>G rs750356247
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs) rs2546474606
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs) rs1553408378
NM_001130987.2(DYSF):c.4683dup (p.Asn1562Ter)
NM_001130987.2(DYSF):c.4768del (p.Ile1590fs) rs1179051248
NM_001130987.2(DYSF):c.4771del (p.Tyr1591fs) rs2546493997
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter) rs2094828804
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter) rs376679461
NM_001130987.2(DYSF):c.4954del (p.Ser1652fs) rs772270346
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter) rs2094861411
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter) rs868779799
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5004-1G>A rs886043170
NM_001130987.2(DYSF):c.5025_5053dup (p.Thr1685delinsIleCysLeuTrpArgArgThrTer) rs2152950672
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs) rs2546540168
NM_001130987.2(DYSF):c.5086G>A (p.Glu1696Lys) rs368142107
NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg) rs766091136
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.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs) rs2546541038
NM_001130987.2(DYSF):c.5174+2T>C rs1553412826
NM_001130987.2(DYSF):c.5174+5G>A rs745891180
NM_001130987.2(DYSF):c.5175-1G>A rs2546546694
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter) rs2546546851
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) rs1558771348
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs) rs2546547388
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter) rs2094975129
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs) rs2546547454
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter) rs2546547546
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer) rs2546547503
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter) rs2094975847
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter) rs2094975881
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter) rs2094976185
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter) rs762398889
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter) rs2094976441
NM_001130987.2(DYSF):c.5420G>C (p.Arg1807Pro) rs148860301
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs) rs769873428
NM_001130987.2(DYSF):c.5458-2A>G rs398123792
NM_001130987.2(DYSF):c.5546+2T>A rs1553415233
NM_001130987.2(DYSF):c.5562T>A (p.Cys1854Ter) rs2095071693
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter) rs2095073059
NM_001130987.2(DYSF):c.561del (p.Gly188fs) rs2545395225
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter) rs1320752132
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5642+2T>A rs2546575776
NM_001130987.2(DYSF):c.5642_5642+12del rs2546575717
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) rs1024524968
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter) rs2546579917
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5830_5843del (p.Arg1944fs) rs2546606310
NM_001130987.2(DYSF):c.5861del (p.Lys1954fs) rs2546606567
NM_001130987.2(DYSF):c.5975del (p.Pro1992fs)
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001130987.2(DYSF):c.6002del (p.Gln2001fs)
NM_001130987.2(DYSF):c.6019_6020insACACA (p.Trp2007fs) rs2546634485
NM_001130987.2(DYSF):c.6028T>C (p.Cys2010Arg) rs1553420858
NM_001130987.2(DYSF):c.6057dup (p.Leu2020fs) rs2152967906
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs) rs2546634674
NM_001130987.2(DYSF):c.6064-1G>C rs886042636
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs) rs2546643711
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter) rs2095289978
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs) rs2546644050
NM_001130987.2(DYSF):c.6155del (p.Pro2052fs) rs2546644089
NM_001130987.2(DYSF):c.6173+1G>A rs1293857367
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter) rs1553422709
NM_001130987.2(DYSF):c.6321+1G>C rs2546653051
NM_001130987.2(DYSF):c.640del (p.Ala214fs) rs2545396000
NM_001130987.2(DYSF):c.641del (p.Ala214fs) rs2545396036
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs) rs2545396065
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter) rs2545396702
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter) rs2545397244
NM_001130987.2(DYSF):c.754_759+5del rs1433612344
NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter) rs886044381
NM_001130987.2(DYSF):c.760-2A>G rs2086573243
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter) rs759065714
NM_001130987.2(DYSF):c.855del (p.Ile286fs)
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) rs794727851
NM_001130987.2(DYSF):c.947del (p.Ile316fs) rs2545420079
NM_001130987.2(DYSF):c.951+2T>C rs886042590
NM_001130987.2(DYSF):c.959dup (p.Asp320fs) rs1559057405
NM_001130987.2(DYSF):c.994del (p.Glu332fs) rs2545427980
NM_001130987.2(DYSF):c.997_1002+1delinsAAAA rs2545428060
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs) rs1553370437
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs) rs1553541329
NM_003494.4(DYSF):c.1522+1G>A rs1473130799
NM_003494.4(DYSF):c.42_43del (p.Pro15fs) rs2466863398
NM_003494.4(DYSF):c.60_61dup (p.Asp21fs)
NM_003494.4(DYSF):c.88+1G>A rs2466864021

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.