ClinVar Miner

List of variants in gene DYSF reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
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.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 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.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.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.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.2698-2A>G rs1420930684 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 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.3532C>T (p.Gln1178Ter) rs886042091 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter) rs763674597 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) rs1156805286 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 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
NM_001130987.2(DYSF):c.1000del (p.Arg334fs) rs1573671276
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1149+3G>C rs1573704236
NM_001130987.2(DYSF):c.1263_1276+1dup rs863225019
NM_001130987.2(DYSF):c.1350del (p.Phe451fs) rs766936914
NM_001130987.2(DYSF):c.1381-2A>G rs786200897
NM_001130987.2(DYSF):c.1449+1G>A rs1553535902
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.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1560del (p.Gly521fs) rs1456182703
NM_001130987.2(DYSF):c.1562del (p.Gly521fs) rs1559109621
NM_001130987.2(DYSF):c.1577-2A>G rs1553542142
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr) rs121908960
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) rs121908957
NM_001130987.2(DYSF):c.2217-1G>T rs886044379
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter)
NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter) rs1574016452
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) rs886042637
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3085+2T>C rs886042951
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.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser) rs202000264
NM_001130987.2(DYSF):c.3497-33A>G rs786205083
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
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.3655C>T (p.Gln1219Ter) rs1380642629
NM_001130987.2(DYSF):c.3702del (p.Val1235fs)
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter) rs778092738
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter) rs866823474
NM_001130987.2(DYSF):c.4221+1G>C rs1474151297
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter) rs971134497
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
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.4941del (p.Lys1648fs) rs1057516051
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) rs786200896
NM_001130987.2(DYSF):c.5096_5115delinsA (p.Gly1699fs)
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5156_5174+4dup rs786205082
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5174+5G>A rs745891180
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter) rs762398889
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly) rs121908961
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs) rs2095035479
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs) rs1558783870
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5547-2A>G rs1238293747
NM_001130987.2(DYSF):c.5621del (p.Met1874fs) rs2152956005
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) rs1131692158
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) rs1573100371
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5849G>A (p.Trp1950Ter) rs2152961374
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter) rs1573138336
NM_001130987.2(DYSF):c.5943C>A (p.Cys1981Ter)
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.622C>T (p.Gln208Ter) rs1553521017
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter) rs1553422723
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.730del (p.Leu244fs) rs1553521119
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)
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.922del (p.Glu308fs) rs1553522133
NM_001130987.2(DYSF):c.951+1del rs786200898
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_003494.4(DYSF):c.1481-1G>A rs398123770

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