ClinVar Miner

List of variants reported as pathogenic for Maple syrup urine disease, type 3 by Invitae

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Total variants: 10
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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.112C>T (p.Gln38Ter) rs1057516698
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.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.946C>T (p.Arg316Ter)

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