ClinVar Miner

List of variants in gene DYSF reported as pathogenic by Invitae

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Total variants: 59
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HGVS dbSNP
NC_000002.11:g.(?_71708003)_(71709110_?)del
NC_000002.11:g.(?_71795071)_(71797474_?)del
NC_000002.11:g.(?_71906177)_(71906375_?)del
NM_001130987.2(DYSF):c.1033+1G>A rs201869739
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.1766_1767insTTCT (p.Lys589fs) rs1553542773
NM_001130987.2(DYSF):c.1834_1835del (p.Leu612fs) rs1559141367
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3270_3271CT[2] (p.Leu1092fs)
NM_001130987.2(DYSF):c.3403-2A>G rs370874727
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.361C>T (p.Gln121Ter) rs1423123313
NM_001130987.2(DYSF):c.3741C>A (p.Tyr1247Ter)
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4418_4419dup (p.Val1474fs)
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4590C>A (p.Cys1530Ter) rs778185705
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789
NM_001130987.2(DYSF):c.4909A>T (p.Lys1637Ter) rs1558750788
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) rs786200896
NM_001130987.2(DYSF):c.5086G>T (p.Glu1696Ter)
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) rs1558771348
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5467C>T (p.Gln1823Ter) rs1553415109
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5711del (p.Gly1904fs) rs786205081
NM_001130987.2(DYSF):c.5724G>A (p.Trp1908Ter) rs1558787893
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.5976_5977inv (p.Glu1993Ter)
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799
NM_001130987.2(DYSF):c.6141_6151del (p.Pro2048_Asn2049insTer) rs1558817973
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs)
NM_003494.3(DYSF):c.2512-1495_3148del
NM_003494.3(DYSF):c.2512-1496_3149del
NM_003494.3(DYSF):c.2643+1G>A rs140108514
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 rs766341386
NM_003494.4(DYSF):c.1523-1G>A rs189923208
NM_003494.4(DYSF):c.1868del (p.Lys623fs)
NM_003494.4(DYSF):c.2016del (p.Ile672fs)
NM_003494.4(DYSF):c.3517dup (p.Ser1173fs) rs766341386
NM_003494.4(DYSF):c.3805dup (p.Glu1269fs)
NM_003494.4(DYSF):c.5821A>T (p.Lys1941Ter) rs1553420738
NM_003494.4(DYSF):c.6049del (p.Asp2017fs)

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