ClinVar Miner

List of variants studied for Deficiency of butyryl-CoA dehydrogenase by GenomeConnect, ClinGen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006

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