ClinVar Miner

List of variants studied 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: 3
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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
NM_000018.4(ACADVL):c.895A>G (p.Lys299Glu) rs2142979869

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