ClinVar Miner

List of variants reported as likely pathogenic for Very long chain acyl-CoA dehydrogenase deficiency by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.894G>A (p.Lys298=)	rs749598830	0.00001
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)	rs776063244

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