ClinVar Miner

List of variants reported as pathogenic for Very long chain acyl-CoA dehydrogenase deficiency by Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)	rs1057516519	0.00001
NM_000018.4(ACADVL):c.1605+1G>T	rs2142988018

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