ClinVar Miner

List of variants reported as uncertain significance for medium chain acyl-CoA dehydrogenase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.*826T>C rs200617844 0.00301
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000016.6(ACADM):c.*133T>C rs193140641 0.00117
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000016.6(ACADM):c.645T>A (p.Ala215=) rs147395095 0.00079
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr) rs150710061 0.00031
NM_000016.5(ACADM):c.-403C>T rs886046518 0.00024
NM_000016.6(ACADM):c.-29T>C rs763024539 0.00018
NM_000016.6(ACADM):c.*44T>C rs374993494 0.00016
NM_000016.6(ACADM):c.210T>G (p.Thr70=) rs778891510 0.00010
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly) rs768440594 0.00006
NM_000016.6(ACADM):c.582C>T (p.Asn194=) rs778535261 0.00006
NM_000016.6(ACADM):c.287-10G>C rs368875210 0.00004
NM_000016.6(ACADM):c.57T>C (p.His19=) rs762984318 0.00004
NM_000016.5(ACADM):c.-92A>G rs567983446 0.00003
NM_000016.5(ACADM):c.-304A>G rs886046521 0.00002
NM_000016.6(ACADM):c.276A>G (p.Pro92=) rs1212443202 0.00002
NM_000016.6(ACADM):c.927C>T (p.Phe309=) rs771550655 0.00002
NM_000016.6(ACADM):c.*317C>T rs886046526 0.00001
NM_000016.6(ACADM):c.-50A>T rs753411141 0.00001
NM_000016.5(ACADM):c.-169C>T rs886046522
NM_000016.5(ACADM):c.-342G>T rs886046520
NM_000016.5(ACADM):c.-375C>T rs886046519
NM_000016.6(ACADM):c.*177G>C rs1311764448
NM_000016.6(ACADM):c.*284C>T rs886046525
NM_000016.6(ACADM):c.*427T>A rs551943304
NM_000016.6(ACADM):c.*63dup rs1400150313
NM_000016.6(ACADM):c.*825del rs199923099
NM_000016.6(ACADM):c.-78G>C rs908019570
NM_000016.6(ACADM):c.1165A>G (p.Lys389Glu) rs1648844304
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.624T>C (p.Asp208=) rs886046523

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