ClinVar Miner

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

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Total variants: 8
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NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.5(DLD):c.1492A>C (p.Asn498His)
NM_000108.5(DLD):c.305A>T (p.His102Leu)
NM_000108.5(DLD):c.367A>G (p.Met123Val) rs111352707
NM_000108.5(DLD):c.470C>G (p.Thr157Ser) rs142232609
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.5(DLD):c.814T>C (p.Phe272Leu) rs942843326

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