ClinVar Miner

List of variants reported as pathogenic for Isovaleryl-CoA dehydrogenase deficiency by Fulgent Genetics,Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP
NM_002225.3(IVD):c.941C>T (p.Ala314Val)	rs28940889
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)	rs2229311
NM_002225.5(IVD):c.784+1G>A	rs763471771

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