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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

Download table as spreadsheet

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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.