ClinVar Miner

List of variants in gene HADHA reported as uncertain significance 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: 34
Download table as spreadsheet
HGVS dbSNP
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln) rs200715496
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996
NM_000182.5(HADHA):c.1220+2_1220+5dup rs1553313192
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.189A>G (p.Thr63=)
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
NM_000182.5(HADHA):c.2_4TGG[1] (p.Val2del) rs1553316724
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser)
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe)
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859
NM_000182.5(HADHA):c.574-4dup rs763636903
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup) rs1316714458
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.677-3T>C
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr)
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418
NM_000182.5(HADHA):c.869T>C (p.Val290Ala)
NM_000182.5(HADHA):c.896C>A (p.Pro299His)
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877
NM_000182.5(HADHA):c.975G>A (p.Gln325=) rs751970693
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) rs796051970
Single allele

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.