List of variants in gene SEC23A reported as benign for developmental defect during embryogenesis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006364.4(SEC23A):c.1900-46A>T	rs4902326	0.75282
NM_006364.4(SEC23A):c.1668A>G (p.Lys556=)	rs11556216	0.27106
NM_006364.4(SEC23A):c.1398+36A>G	rs55993688	0.27090
NM_006364.4(SEC23A):c.927T>C (p.Pro309=)	rs17108797	0.04778
NM_006364.4(SEC23A):c.1092C>T (p.Pro364=)	rs77375580	0.00664
NM_006364.4(SEC23A):c.1900-10T>C	rs189849576	0.00144
NM_006364.4(SEC23A):c.2209-13dup	rs11418467
NM_006364.4(SEC23A):c.222-16dup	rs5808022
NM_006364.4(SEC23A):c.631C>G (p.Leu211Val)	rs8018720

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.