List of variants in gene ABRAXAS1 reported as benign by Breakthrough Genomics, Breakthrough Genomics

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_139076.3(ABRAXAS1):c.216-34G>A	rs6535478	0.61793
NM_139076.3(ABRAXAS1):c.1042G>A (p.Ala348Thr)	rs12642536	0.34822
NM_139076.3(ABRAXAS1):c.596+97T>C	rs60638712	0.23977
NM_139076.3(ABRAXAS1):c.681+132G>A	rs56271349	0.23505
NM_139076.3(ABRAXAS1):c.216-44T>C	rs75295148	0.10204
NM_139076.3(ABRAXAS1):c.178+129C>A	rs144237623	0.06134
NM_139076.3(ABRAXAS1):c.282+131A>T	rs111692631	0.04058
NM_139076.3(ABRAXAS1):c.477-259C>T	rs79656940	0.03971
NM_139076.3(ABRAXAS1):c.682-107T>G	rs79585753	0.03040
NM_139076.3(ABRAXAS1):c.681+215T>C	rs78607458	0.02978
NM_139076.3(ABRAXAS1):c.283-108C>T	rs115192589	0.02599
NM_139076.3(ABRAXAS1):c.951C>T (p.Leu317=)	rs79357787	0.00772
NM_139076.3(ABRAXAS1):c.476+18A>T	rs199567861	0.00096
NM_139076.3(ABRAXAS1):c.215+206T>G	rs17352803
NM_139076.3(ABRAXAS1):c.476+264C>G	rs7660276

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.