ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.1012C>G (p.Gln338Glu) rs796051896
NM_000016.5(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.5(ACADM):c.1091T>C (p.Ile364Thr) rs150710061
NM_000016.5(ACADM):c.1125A>G (p.Ile375Met) rs201809827
NM_000016.5(ACADM):c.1184A>C (p.Lys395Thr) rs776312173
NM_000016.5(ACADM):c.1194+3A>G rs369945009
NM_000016.5(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
NM_000016.5(ACADM):c.1265A>T (p.Ter422Leu) rs200376609
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.131A>G (p.Gln44Arg) rs751647383
NM_000016.5(ACADM):c.302G>A (p.Gly101Glu) rs875989862
NM_000016.5(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.5(ACADM):c.385G>T (p.Gly129Trp) rs886042076
NM_000016.5(ACADM):c.393G>A (p.Met131Ile) rs368773005
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.5(ACADM):c.599+3A>G rs375921211
NM_000016.5(ACADM):c.609A>C (p.Leu203Phe) rs751829413
NM_000016.5(ACADM):c.666C>A (p.Phe222Leu) rs139457557
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.86G>T (p.Arg29Leu)
NM_000016.5(ACADM):c.946-6T>G rs765793260
NM_000016.6(ACADM):c.1075G>C (p.Ala359Pro)
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val)
NM_000016.6(ACADM):c.1216A>G (p.Ile406Val)
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
NM_000016.6(ACADM):c.221C>T (p.Pro74Leu)
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr)
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr)
NM_000016.6(ACADM):c.277G>A (p.Glu93Lys)
NM_000016.6(ACADM):c.289G>A (p.Gly97Ser)
NM_000016.6(ACADM):c.327T>A (p.Ser109Arg)
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala)
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)
NM_000016.6(ACADM):c.468T>G (p.Cys156Trp)
NM_000016.6(ACADM):c.494C>T (p.Ala165Val)
NM_000016.6(ACADM):c.554T>G (p.Ile185Ser)
NM_000016.6(ACADM):c.576A>G (p.Ile192Met)
NM_000016.6(ACADM):c.581A>G (p.Asn194Ser)
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
NM_000016.6(ACADM):c.785T>A (p.Val262Asp)
NM_000016.6(ACADM):c.865G>T (p.Val289Phe)
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
NM_001286044.1(ACADM):c.-100+670_-100+671delinsCA rs1553123069
NM_001286044.1(ACADM):c.-151_-149AGA[1] rs1553122972

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.