ClinVar Miner

List of variants in gene HADHB reported as 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: 18
Download table as spreadsheet
NM_000183.3(HADHB):c.*136G>C rs1056471
NM_000183.3(HADHB):c.*196A>G rs7586822
NM_000183.3(HADHB):c.*351C>G rs7575987
NM_000183.3(HADHB):c.*486G>A rs7601689
NM_000183.3(HADHB):c.*52A>G rs183649494
NM_000183.3(HADHB):c.1014-14A>G rs17528590
NM_000183.3(HADHB):c.1149+4A>T rs2303893
NM_000183.3(HADHB):c.135G>A (p.Thr45=) rs574464531
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000183.3(HADHB):c.780C>T (p.Leu260=) rs7607527
NM_000183.3(HADHB):c.812-5A>T rs72851534
NM_000183.3(HADHB):c.825T>C (p.Val275=) rs1056389
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) rs57969630
NM_000183.3(HADHB):c.891C>T (p.Ile297=) rs56902571
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705
NM_000183.3(HADHB):c.966G>A (p.Ala322=) rs7572240

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.