ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.583-1G>C
NM_000108.5(DLD):c.875+1G>A rs1328820332

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