ClinVar Miner

List of variants reported as uncertain significance for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Illumina Clinical Services Laboratory,Illumina

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Total variants: 34
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HGVS dbSNP
NM_000016.5(ACADM):c.*133T>C rs193140641
NM_000016.5(ACADM):c.*284C>T rs886046525
NM_000016.5(ACADM):c.*317C>T rs886046526
NM_000016.5(ACADM):c.*44T>C rs374993494
NM_000016.5(ACADM):c.*63dup rs1400150313
NM_000016.5(ACADM):c.*825del rs199923099
NM_000016.5(ACADM):c.-169C>T rs886046522
NM_000016.5(ACADM):c.-29T>C rs763024539
NM_000016.5(ACADM):c.-304A>G rs886046521
NM_000016.5(ACADM):c.-342G>T rs886046520
NM_000016.5(ACADM):c.-375C>T rs886046519
NM_000016.5(ACADM):c.-403C>T rs886046518
NM_000016.5(ACADM):c.-50A>T rs753411141
NM_000016.5(ACADM):c.-92A>G rs567983446
NM_000016.5(ACADM):c.1091T>C (p.Ile364Thr) rs150710061
NM_000016.5(ACADM):c.210T>G (p.Thr70=) rs778891510
NM_000016.5(ACADM):c.287-10G>C rs368875210
NM_000016.5(ACADM):c.469-9A>G rs181322317
NM_000016.5(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.5(ACADM):c.57T>C (p.His19=) rs762984318
NM_000016.5(ACADM):c.582C>T (p.Asn194=) rs778535261
NM_000016.5(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.5(ACADM):c.645T>A (p.Ala215=) rs147395095
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000016.6(ACADM):c.*177G>C
NM_000016.6(ACADM):c.*427T>A
NM_000016.6(ACADM):c.*826T>C
NM_000016.6(ACADM):c.-78G>C
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly)
NM_000016.6(ACADM):c.1165A>G (p.Lys389Glu)
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
NM_000016.6(ACADM):c.927C>T (p.Phe309=)

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