ClinVar Miner

List of variants in gene SEC23B reported as likely benign for congenital dyserythropoietic anemia type 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_006363.6(SEC23B):c.*278T>C
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=) rs146587686
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala) rs143456757
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=) rs138623580
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=) rs139882548
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=) rs779351917
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile) rs202187007
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893
NM_006363.6(SEC23B):c.689+10C>T rs200020725
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840
NM_006363.6(SEC23B):c.835-7A>G rs184484121

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.