ClinVar Miner

List of variants in gene DLD reported as pathogenic for Maple syrup urine disease, type 3

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Total variants: 21
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HGVS dbSNP
NC_000007.14:g.(?_107901728)_(107906378_?)del
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr) rs121964991
NM_000108.5(DLD):c.12G>A (p.Trp4Ter) rs1562908173
NM_000108.5(DLD):c.1340_1343CAGA[1] (p.Asp448fs)
NM_000108.5(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly) rs397514650
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.214A>G (p.Lys72Glu) rs121964987
NM_000108.5(DLD):c.308_310delinsT (p.Gly103fs)
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.5(DLD):c.821dup (p.Leu274fs)
NM_000108.5(DLD):c.875+1G>A rs1328820332
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)

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