ClinVar Miner

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: 9
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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_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_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys) rs369713466 0.00008
NM_004453.4(ETFDH):c.405+3A>G rs796051965

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