ClinVar Miner

List of variants studied for Multiple acyl-CoA dehydrogenase deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_001985.3(ETFB):c.136del (p.Val46fs)
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)

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