ClinVar Miner

List of variants studied for Multiple acyl-CoA dehydrogenase deficiency by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)	rs377656387	0.00003
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)	rs749085653

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