ClinVar Miner

List of variants reported as likely pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_76211471)_(76211619_?)dup
NM_000016.5(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.5(ACADM):c.1238G>A (p.Arg413His) rs1337929727
NM_000016.5(ACADM):c.287-2A>G rs1057518677
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.423_425del (p.Lys144del) rs886042087
NM_000016.5(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.5(ACADM):c.717C>G (p.Asn239Lys) rs1348176225
NM_000016.5(ACADM):c.950A>T (p.Gln317Leu) rs1557466604
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)
NM_000016.6(ACADM):c.119-1G>C
NM_000016.6(ACADM):c.468+2T>G
NM_000016.6(ACADM):c.503A>G (p.Asp168Gly)
NM_000016.6(ACADM):c.555T>G (p.Ile185Met)
NM_000016.6(ACADM):c.708G>C (p.Lys236Asn)

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.