List of variants reported as likely pathogenic for Multiple acyl-CoA dehydrogenase deficiency by Revvity Omics, Revvity

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	rs769976586	0.00004
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)	rs148045813	0.00001
NM_000126.4(ETFA):c.319_322del (p.His107fs)	rs866218814
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)	rs779140971
NM_004453.4(ETFDH):c.1471_1473delinsCAAAAGCC (p.Ser491fs)
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro)	rs863224869

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