ClinVar Miner

List of variants reported as benign for Deficiency of butyryl-CoA dehydrogenase by Invitae

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
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.360C>T (p.Asn120=) rs76543640 0.01346
NM_000017.4(ACADS):c.796-14G>C rs201420791 0.00256
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686 0.00237
NM_000017.4(ACADS):c.1087-17C>A rs201218974 0.00219
NM_000017.4(ACADS):c.522C>T (p.Gly174=) rs143925225 0.00169
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000017.4(ACADS):c.147C>G (p.Ala49=) rs202193021 0.00004
NM_000017.4(ACADS):c.663G>T (p.Gly221=) rs751023929 0.00004
NM_000017.4(ACADS):c.516C>T (p.Ala172=) rs531683812

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