ClinVar Miner

List of variants reported as pathogenic for 3-hydroxyacyl-CoA dehydrogenase deficiency by OMIM

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
HADH, 6-BP DEL
HADH, EX1DEL
HADHB, 1-BP INS, 36-BP DEL
NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) rs137852772
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.180+3A>G rs781222705
NM_000182.5(HADHA):c.2132dup (p.Pro712fs) rs1574600309
NM_000182.5(HADHA):c.845T>A (p.Val282Asp) rs137852773
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) rs764623179
NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys) rs121913134
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly) rs267606859
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132
NM_000183.3(HADHB):c.357dup (p.Ala120fs) rs886037844
NM_000183.3(HADHB):c.740G>A (p.Arg247His) rs121913133
NM_000183.3(HADHB):c.788A>G (p.Asp263Gly) rs121913131
NM_005327.5(HADH):c.118G>A (p.Ala40Thr) rs137853101
NM_005327.5(HADH):c.171C>A (p.Asp57Glu) rs137853102
NM_005327.5(HADH):c.636+471G>T rs786200932
NM_005327.5(HADH):c.706C>T (p.Arg236Ter) rs375717077
NM_005327.5(HADH):c.773C>T (p.Pro258Leu) rs137853103

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.