List of variants in gene combination ACADVL, DVL2 reported as likely pathogenic for Very long chain acyl-CoA dehydrogenase deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	rs113994170	0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)	rs759775666	0.00001
NM_000018.4(ACADVL):c.1632del (p.Thr545fs)
NM_000018.4(ACADVL):c.1748C>A (p.Ser583Ter)

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