ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 104
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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.*200C>T rs137990231 0.00378
NM_000017.4(ACADS):c.796-14G>C rs201420791 0.00256
NM_000017.4(ACADS):c.669G>A (p.Thr223=) rs17848089 0.00056
NM_000017.4(ACADS):c.1053C>T (p.Ala351=) rs145594828 0.00051
NM_000017.4(ACADS):c.360+15A>G rs770784767 0.00043
NM_000017.4(ACADS):c.624+8C>T rs371550264 0.00039
NM_000017.4(ACADS):c.1029+20A>C rs370161104 0.00038
NM_000017.4(ACADS):c.795+9G>A rs370703070 0.00031
NM_000017.4(ACADS):c.211-18G>A rs201747310 0.00019
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_000017.4(ACADS):c.825C>T (p.Ile275=) rs200652158 0.00014
NM_000017.4(ACADS):c.46+20G>C rs561966080 0.00012
NM_000017.4(ACADS):c.255C>T (p.Pro85=) rs113118479 0.00011
NM_000017.4(ACADS):c.*4C>T rs774815274 0.00009
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000017.4(ACADS):c.819C>T (p.Ile273=) rs368859841 0.00009
NM_000017.4(ACADS):c.1149C>T (p.Arg383=) rs371323002 0.00008
NM_000017.4(ACADS):c.204G>A (p.Ala68=) rs374124706 0.00007
NM_000017.4(ACADS):c.327C>T (p.Cys109=) rs144083614 0.00007
NM_000017.4(ACADS):c.1050G>T (p.Leu350=) rs768748973 0.00006
NM_000017.4(ACADS):c.225C>T (p.Gly75=) rs370478896 0.00006
NM_000017.4(ACADS):c.624+11C>T rs763811046 0.00006
NM_000017.4(ACADS):c.1104C>T (p.Gly368=) rs200165866 0.00004
NM_000017.4(ACADS):c.147C>G (p.Ala49=) rs202193021 0.00004
NM_000017.4(ACADS):c.888T>C (p.Asn296=) rs111686208 0.00004
NM_000017.4(ACADS):c.905C>T (p.Ala302Val) rs770009021 0.00004
NM_000017.4(ACADS):c.934-18G>C rs371199821 0.00004
NM_000017.4(ACADS):c.414G>A (p.Ala138=) rs201825471 0.00003
NM_000017.4(ACADS):c.900C>T (p.Phe300=) rs150980955 0.00003
NM_000017.4(ACADS):c.46+15G>A rs777164036 0.00002
NM_000017.4(ACADS):c.579G>A (p.Ser193=) rs777162096 0.00002
NM_000017.4(ACADS):c.933+14C>G rs753402878 0.00002
NM_000017.4(ACADS):c.1071C>T (p.Thr357=) rs759011410 0.00001
NM_000017.4(ACADS):c.1173C>T (p.Tyr391=) rs766657084 0.00001
NM_000017.4(ACADS):c.46+8C>A rs758929346 0.00001
NM_000017.4(ACADS):c.473-9T>G rs751507296 0.00001
NM_000017.4(ACADS):c.477C>T (p.Asn159=) rs747915680 0.00001
NM_000017.4(ACADS):c.625-7C>T rs748174528 0.00001
NM_000017.4(ACADS):c.801C>A (p.Thr267=) rs746750876 0.00001
NM_000017.4(ACADS):c.934-11G>A rs753547944 0.00001
NM_000017.4(ACADS):c.981G>C (p.Leu327=) rs1214493869 0.00001
NM_000017.4(ACADS):c.1029+18C>T
NM_000017.4(ACADS):c.1030-13C>T
NM_000017.4(ACADS):c.1030-20G>A
NM_000017.4(ACADS):c.1030-6G>A rs1249811685
NM_000017.4(ACADS):c.1086+19C>A
NM_000017.4(ACADS):c.1116C>T (p.Tyr372=)
NM_000017.4(ACADS):c.1131G>A (p.Pro377=)
NM_000017.4(ACADS):c.1152C>T (p.Asp384=)
NM_000017.4(ACADS):c.1167G>A (p.Glu389=) rs1195281334
NM_000017.4(ACADS):c.1170C>T (p.Ile390=)
NM_000017.4(ACADS):c.1179C>T (p.Gly393=)
NM_000017.4(ACADS):c.1198C>G (p.Leu400Val) rs369840561
NM_000017.4(ACADS):c.126C>G (p.Leu42=)
NM_000017.4(ACADS):c.210+13C>T rs1883114264
NM_000017.4(ACADS):c.243C>T (p.Ala81=)
NM_000017.4(ACADS):c.249C>T (p.Asp83=)
NM_000017.4(ACADS):c.267C>T (p.Gly89=)
NM_000017.4(ACADS):c.285C>T (p.Tyr95=)
NM_000017.4(ACADS):c.286C>T (p.Leu96=)
NM_000017.4(ACADS):c.294C>T (p.Tyr98=)
NM_000017.4(ACADS):c.360+16G>A rs2136948385
NM_000017.4(ACADS):c.360+19C>G
NM_000017.4(ACADS):c.360+8C>G
NM_000017.4(ACADS):c.361-10G>C
NM_000017.4(ACADS):c.361-13G>A
NM_000017.4(ACADS):c.361-20G>A
NM_000017.4(ACADS):c.399G>A (p.Lys133=)
NM_000017.4(ACADS):c.402G>A (p.Glu134=)
NM_000017.4(ACADS):c.413C>T (p.Ala138Val)
NM_000017.4(ACADS):c.432C>T (p.Thr144=)
NM_000017.4(ACADS):c.46+16A>C
NM_000017.4(ACADS):c.46+9G>T
NM_000017.4(ACADS):c.47-14G>C rs2136939265
NM_000017.4(ACADS):c.47-17T>C
NM_000017.4(ACADS):c.472+9C>G
NM_000017.4(ACADS):c.473-7T>C
NM_000017.4(ACADS):c.489A>C (p.Ala163=)
NM_000017.4(ACADS):c.528A>C (p.Ser176=)
NM_000017.4(ACADS):c.576T>C (p.Ala192=)
NM_000017.4(ACADS):c.603G>A (p.Thr201=)
NM_000017.4(ACADS):c.603G>T (p.Thr201=)
NM_000017.4(ACADS):c.612C>A (p.Ala204=)
NM_000017.4(ACADS):c.624+19G>A
NM_000017.4(ACADS):c.624+19G>C
NM_000017.4(ACADS):c.625-10C>T
NM_000017.4(ACADS):c.625-8C>A
NM_000017.4(ACADS):c.636C>T (p.Ala212=)
NM_000017.4(ACADS):c.670T>C (p.Leu224=)
NM_000017.4(ACADS):c.672G>A (p.Leu224=)
NM_000017.4(ACADS):c.702G>A (p.Arg234=) rs1306227224
NM_000017.4(ACADS):c.795+8C>T
NM_000017.4(ACADS):c.795+9G>T
NM_000017.4(ACADS):c.796-12C>T
NM_000017.4(ACADS):c.840G>T (p.Leu280=)
NM_000017.4(ACADS):c.855C>T (p.Thr285=)
NM_000017.4(ACADS):c.861C>T (p.Leu287=)
NM_000017.4(ACADS):c.879C>T (p.Tyr293=)
NM_000017.4(ACADS):c.87C>T (p.Tyr29=)
NM_000017.4(ACADS):c.897C>A (p.Ala299=)
NM_000017.4(ACADS):c.984C>T (p.Thr328=)
NM_000017.4(ACADS):c.993T>C (p.Ala331=)

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