ClinVar Miner

List of variants reported as pathogenic for Deficiency of isobutyryl-CoA dehydrogenase

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser) rs201273972 0.00030
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_014384.3(ACAD8):c.784G>A (p.Glu262Lys) rs368653287 0.00016
NM_014384.3(ACAD8):c.455T>C (p.Met152Thr) rs121908418 0.00007
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg) rs371449613 0.00004
NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter) rs746960051 0.00003
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln) rs121908422 0.00002
NM_014384.3(ACAD8):c.1000C>T (p.Arg334Cys) rs778823613 0.00001
NM_014384.3(ACAD8):c.286G>A (p.Gly96Ser) rs773472208 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NC_000011.9:g.(?_133778964)_(134134854_?)del
NM_014384.2(ACAD8):c.235C>T (p.Arg79Trp) rs377629003
NM_014384.3(ACAD8):c.1092+1G>A rs572619478
NM_014384.3(ACAD8):c.1092+1G>C rs572619478
NM_014384.3(ACAD8):c.133C>T (p.Gln45Ter) rs1591505809
NM_014384.3(ACAD8):c.348C>A (p.Cys116Ter) rs768701760
NM_014384.3(ACAD8):c.473A>C (p.Tyr158Ser)
NM_014384.3(ACAD8):c.589G>T (p.Glu197Ter)
NM_014384.3(ACAD8):c.616C>T (p.Arg206Ter)
NM_014384.3(ACAD8):c.867C>A (p.His289Gln) rs121908421
NM_014384.3(ACAD8):c.886C>T (p.Arg296Ter)

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