ClinVar Miner

List of variants studied for Deficiency of isobutyryl-CoA dehydrogenase by Invitae

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Total variants: 20
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HGVS dbSNP
NM_014384.2(ACAD8):c.1000C>T (p.Arg334Cys)
NM_014384.2(ACAD8):c.1004A>G (p.Asn335Ser) rs768954546
NM_014384.2(ACAD8):c.133C>T (p.Gln45Ter)
NM_014384.2(ACAD8):c.250C>G (p.Leu84Val) rs1330918776
NM_014384.2(ACAD8):c.292T>C (p.Ser98Pro)
NM_014384.2(ACAD8):c.293C>T (p.Ser98Phe) rs948304437
NM_014384.2(ACAD8):c.2T>C (p.Met1Thr) rs767041100
NM_014384.2(ACAD8):c.308T>G (p.Leu103Arg)
NM_014384.2(ACAD8):c.380+7G>T rs1335335796
NM_014384.2(ACAD8):c.409G>A (p.Gly137Arg) rs371449613
NM_014384.2(ACAD8):c.466G>T (p.Ala156Ser) rs201273972
NM_014384.2(ACAD8):c.512C>G (p.Ser171Cys) rs113488591
NM_014384.2(ACAD8):c.643A>G (p.Ile215Val)
NM_014384.2(ACAD8):c.734C>T (p.Ala245Val) rs780609527
NM_014384.2(ACAD8):c.784G>A (p.Glu262Lys) rs368653287
NM_014384.2(ACAD8):c.841+7T>C rs77368661
NM_014384.2(ACAD8):c.905G>C (p.Arg302Pro)
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) rs200620279
NM_014384.2(ACAD8):c.965T>C (p.Met322Thr) rs577976129
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420

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