List of variants studied for multiple acyl-CoA dehydrogenase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)	rs1801591	0.06414
NM_004453.4(ETFDH):c.1690+15C>T	rs11931339	0.01356
NM_000126.4(ETFA):c.734-20C>A	rs2460160	0.00787
NM_001985.3(ETFB):c.438+20C>T	rs114985874	0.00662
NM_004453.4(ETFDH):c.1468+15A>C	rs146561214	0.00590
NM_004453.4(ETFDH):c.684+13A>C	rs149407913	0.00366
NM_001985.3(ETFB):c.447C>T (p.Phe149=)	rs144640661	0.00334
NM_000126.4(ETFA):c.186+7A>G	rs184587113	0.00231
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)	rs141200145	0.00096
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)	rs139306043	0.00074
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys)	rs369713466	0.00008
NM_001985.3(ETFB):c.217-4G>T	rs149557388	0.00003
NM_000126.4(ETFA):c.186+5G>A
NM_004453.4(ETFDH):c.405+3A>G	rs796051965

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