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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)	rs142761835	0.00013
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)	rs371427844	0.00004
NM_002225.5(IVD):c.1175G>A (p.Arg392His)	rs982218848	0.00003
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)	rs747273828	0.00002
NM_002225.5(IVD):c.286+2T>C	rs748026507	0.00001

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