ClinVar Miner

List of variants in gene ACADS reported as likely pathogenic for Deficiency of butyryl-CoA dehydrogenase

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Gene type:
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Total variants: 79
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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.989G>A (p.Arg330His) rs199633532 0.00009
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.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) rs121908006 0.00006
NM_000017.4(ACADS):c.1157G>A (p.Arg386His) rs766183395 0.00005
NM_000017.4(ACADS):c.1196G>A (p.Arg399Gln) rs926187308 0.00005
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000017.4(ACADS):c.274G>T (p.Gly92Cys) rs121908004 0.00004
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00004
NM_000017.4(ACADS):c.1139G>A (p.Arg380Gln) rs368064268 0.00003
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00003
NM_000017.4(ACADS):c.360+1G>A rs1018117461 0.00002
NM_000017.4(ACADS):c.934-5T>A rs749885391 0.00002
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.1112G>T (p.Gly371Val) rs796051905 0.00001
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718 0.00001
NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs) rs1057516421 0.00001
NM_000017.4(ACADS):c.137G>A (p.Arg46Gln) rs758012734 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.326_328del (p.Cys109_Ala110delinsSer) rs1346829948 0.00001
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) rs369167716 0.00001
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880 0.00001
NM_000017.4(ACADS):c.625-1G>A rs1452314438 0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198 0.00001
NM_000017.4(ACADS):c.937A>G (p.Lys313Glu) rs1233243754 0.00001
NC_000012.11:g.(?_121175482)_(121175653_?)del
NM_000017.4(ACADS):c.1029+1G>A rs1057516639
NM_000017.4(ACADS):c.1031del (p.Glu344fs) rs1057517155
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
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.1132del (p.Ala378fs)
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.125_126del (p.Leu42fs)
NM_000017.4(ACADS):c.125_135del (p.Leu42fs) rs1057516733
NM_000017.4(ACADS):c.211-1G>A rs1057516566
NM_000017.4(ACADS):c.211-2A>G
NM_000017.4(ACADS):c.224del (p.Gly75fs)
NM_000017.4(ACADS):c.263T>G (p.Leu88Arg)
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
NM_000017.4(ACADS):c.315del (p.Ser106fs) rs1057516385
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.32del (p.Gly11fs) rs1057516967
NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter) rs749491616
NM_000017.4(ACADS):c.391G>C (p.Gly131Arg) rs1883486863
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.423_424del (p.Pro142fs)
NM_000017.4(ACADS):c.47-2A>C rs770646738
NM_000017.4(ACADS):c.472+1G>T
NM_000017.4(ACADS):c.473-2A>G rs1057516231
NM_000017.4(ACADS):c.518_519insCTGCT (p.Glu173fs)
NM_000017.4(ACADS):c.527C>A (p.Ser176Ter) rs1057516848
NM_000017.4(ACADS):c.54dup (p.Pro19fs)
NM_000017.4(ACADS):c.593_594del (p.Phe198fs) rs1057516685
NM_000017.4(ACADS):c.607A>T (p.Arg203Ter)
NM_000017.4(ACADS):c.675dup (p.Lys226fs) rs1057516436
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.711del (p.Thr238fs)
NM_000017.4(ACADS):c.795+1G>A rs752978753
NM_000017.4(ACADS):c.872_873del (p.Val291fs)
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000017.4(ACADS):c.916A>T (p.Lys306Ter)
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906

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