ClinVar Miner

List of variants studied for Deficiency of butyryl-CoA dehydrogenase by MGZ Medical Genetics Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004

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