ClinVar Miner

List of variants reported for Very long chain acyl-CoA dehydrogenase deficiency by Genetics and Molecular Pathology, SA Pathology

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)	rs113994167	0.00116
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)	rs138058572	0.00002
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	rs113994170	0.00001
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)	rs796051913

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