ClinVar Miner

List of variants in gene DES reported as pathogenic for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP
DES, 3-BP DEL, 720GAA
DES, GLU359-ALA360-SER361 DEL
DES, IVS2, G-A, -1
DES, IVS3DS, A-G, +3
NC_000002.12:g.(?_219418453)_(219426000_?)del
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) rs57496341
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) rs267607482
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1043A>C (p.Gln348Pro) rs1411703397
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1078G>C (p.Ala360Pro) rs121913000
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) rs1575014889
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.1132_1153del (p.Lys378fs) rs1575014943
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) rs57955682
NM_001927.4(DES):c.1166A>C (p.Gln389Pro) rs121913004
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.1213del (p.Tyr405fs) rs886043080
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1237G>T (p.Glu413Ter) rs61726467
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1255_1271del (p.Pro419fs) rs1553603732
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.194dup (p.Leu66fs)
NM_001927.4(DES):c.226del (p.Thr76fs) rs1399282762
NM_001927.4(DES):c.254_255insT (p.Gly86fs)
NM_001927.4(DES):c.309del (p.Thr104fs)
NM_001927.4(DES):c.322G>T (p.Glu108Ter) rs62636490
NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del) rs1553603239
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.373A>T (p.Lys125Ter) rs886043000
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.394C>T (p.Gln132Ter) rs1060503165
NM_001927.4(DES):c.452_459del (p.Val151fs)
NM_001927.4(DES):c.514C>T (p.Gln172Ter) rs1559352440
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_001927.4(DES):c.525_526del (p.Val176fs)
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560
NM_001927.4(DES):c.639+4_639+5del rs730880289
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.7C>T (p.Gln3Ter)
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
NM_001927.4(DES):c.973C>T (p.Arg325Ter)

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