ClinVar Miner

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

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Total variants: 41
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HGVS dbSNP
NM_000017.4(ACADS):c.1029+1G>A rs1057516639
NM_000017.4(ACADS):c.1030-1G>A rs1226857910
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.4(ACADS):c.1031del (p.Glu344fs) rs1057517155
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.107dup (p.Thr37fs) rs750941135
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.1095G>T (p.Gln365His) rs368469075
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872
NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs) rs1057516421
NM_000017.4(ACADS):c.125_135del (p.Leu42fs) rs1057516733
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969
NM_000017.4(ACADS):c.211-1G>A rs1057516566
NM_000017.4(ACADS):c.29_35dup (p.Ala13fs) rs765758808
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
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.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.527C>A (p.Ser176Ter) rs1057516848
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000017.4(ACADS):c.593_594del (p.Phe198fs) rs1057516685
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
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.934-5T>A
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906
NM_001002030.2(ECHDC1):c.221-4_222delinsTA
NM_001002030.2(ECHDC1):c.389T>C (p.Met130Thr)
NM_001002030.2(ECHDC1):c.498-40AG[2]

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