ClinVar Miner

List of variants in gene HADHA reported as pathogenic 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: 15
Download table as spreadsheet
NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) rs137852772
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.180+3A>G rs781222705
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.612dup (p.Arg205Ter) rs1574623071
NM_000182.5(HADHA):c.676+2T>C rs772683361
NM_000182.5(HADHA):c.6_24dup (p.Ile9fs) rs1456890163
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

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.