ClinVar Miner

List of variants in gene combination GAREM2, HADHA reported as likely benign for 3-hydroxyacyl-CoA dehydrogenase deficiency

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000182.5(HADHA):c.1389A>G (p.Glu463=) rs772078762
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu) rs145422395
NM_000182.5(HADHA):c.1620+9C>G rs772786562
NM_000182.5(HADHA):c.1620+9C>T rs772786562
NM_000182.5(HADHA):c.1621-7T>C rs774272303
NM_000182.5(HADHA):c.1629T>C (p.Pro543=) rs1056729658
NM_000182.5(HADHA):c.1690-14C>T rs142401180
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400
NM_000182.5(HADHA):c.1854G>C (p.Leu618=) rs201393639
NM_000182.5(HADHA):c.1935G>A (p.Arg645=) rs762246988
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382
NM_000182.5(HADHA):c.1971G>A (p.Ala657=) rs570854524
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718
NM_000182.5(HADHA):c.2000+9G>A rs200802583
NM_000182.5(HADHA):c.2112C>T (p.Ala704=) rs754294789
NM_000182.5(HADHA):c.2133G>A (p.Pro711=) rs186499456
NM_000182.5(HADHA):c.2147-8C>G rs368976628
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631

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.