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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

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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+3G>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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