ClinVar Miner

List of variants reported as pathogenic for Very long chain acyl-CoA dehydrogenase deficiency by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	rs545215807	0.00001
NM_000018.4(ACADVL):c.1269+1G>A	rs773401248

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