ClinVar Miner

List of variants reported as likely benign for Isovaleryl-CoA dehydrogenase deficiency by Invitae

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Total variants: 16
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NM_002225.5(IVD):c.1005G>A (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1139-8G>C rs755640305
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686
NM_002225.5(IVD):c.234+9G>A rs369931477
NM_002225.5(IVD):c.286+8T>C rs769702849
NM_002225.5(IVD):c.303C>T (p.Ser101=) rs749482459
NM_002225.5(IVD):c.534C>A (p.Leu178=) rs775318094
NM_002225.5(IVD):c.540G>A (p.Ala180=) rs775944806
NM_002225.5(IVD):c.690T>C (p.Gly230=) rs1182189552
NM_002225.5(IVD):c.822C>T (p.Tyr274=) rs375580399
NM_002225.5(IVD):c.879-5G>A rs750569823
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134
NM_002225.5(IVD):c.948C>T (p.Ile316=) rs754100750
NM_002225.5(IVD):c.961-6G>A rs199783007

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