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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)	rs796051964	0.00007
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)	rs398124152	0.00006
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)	rs558005496	0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	rs121964954	0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)	rs780015493	0.00004
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)	rs377656387	0.00003
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)	rs1384386872
NM_001985.3(ETFB):c.284_293del (p.Glu95fs)	rs2123587098
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)	rs1469053638
NM_004453.4(ETFDH):c.398_402del (p.Glu133fs)	rs2150305310
NM_004453.4(ETFDH):c.524G>A (p.Arg175His)	rs121964955

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