List of variants reported as likely pathogenic for Deficiency of butyryl-CoA dehydrogenase by Counsyl

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Total variants: 33

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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.988C>T (p.Arg330Cys)	rs140853839	0.00046
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)	rs28941773	0.00020
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)	rs28940872	0.00008
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)	rs121908003	0.00008
NM_000017.4(ACADS):c.1095G>T (p.Gln365His)	rs368469075	0.00006
NM_000017.4(ACADS):c.1030-1G>A	rs1226857910	0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)	rs387906950	0.00001
NM_000017.4(ACADS):c.107dup (p.Thr37fs)	rs750941135	0.00001
NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs)	rs1057516421	0.00001
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)	rs147442301	0.00001
NM_000017.4(ACADS):c.1A>G (p.Met1Val)	rs1291226969	0.00001
NM_000017.4(ACADS):c.29_35dup (p.Ala13fs)	rs765758808	0.00001
NM_000017.4(ACADS):c.1029+1G>A	rs1057516639
NM_000017.4(ACADS):c.1031del (p.Glu344fs)	rs1057517155
NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter)	rs541587321
NM_000017.4(ACADS):c.1086+1G>A	rs1555244367
NM_000017.4(ACADS):c.1086+1G>T	rs1555244367
NM_000017.4(ACADS):c.1086+1del	rs1555244366
NM_000017.4(ACADS):c.125_135del (p.Leu42fs)	rs1057516733
NM_000017.4(ACADS):c.211-1G>A	rs1057516566
NM_000017.4(ACADS):c.315del (p.Ser106fs)	rs1057516385
NM_000017.4(ACADS):c.32del (p.Gly11fs)	rs1057516967
NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter)	rs749491616
NM_000017.4(ACADS):c.409C>T (p.Gln137Ter)	rs752677472
NM_000017.4(ACADS):c.417G>A (p.Trp139Ter)	rs149107232
NM_000017.4(ACADS):c.473-2A>G	rs1057516231
NM_000017.4(ACADS):c.527C>A (p.Ser176Ter)	rs1057516848
NM_000017.4(ACADS):c.593_594del (p.Phe198fs)	rs1057516685
NM_000017.4(ACADS):c.675dup (p.Lys226fs)	rs1057516436
NM_000017.4(ACADS):c.682_683del (p.Glu228fs)	rs786204691
NM_000017.4(ACADS):c.910dup (p.Leu304fs)	rs1057516606
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys)	rs796051906

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