ClinVar Miner

List of variants in gene TGFBR1 reported as benign for Thoracic aortic aneurysm and aortic dissection

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_004612.2:c.76_78delCGC
NM_004612.2:c.76_78dupCG
NM_004612.3(TGFBR1):c.*2103_*2104insG rs36064078
NM_004612.3(TGFBR1):c.*2800G>A rs334349
NM_004612.3(TGFBR1):c.*3225G>A rs3739798
NM_004612.3(TGFBR1):c.*3286G>C rs420549
NM_004612.3(TGFBR1):c.*4489T>C rs7850895
NM_004612.3(TGFBR1):c.*4578T>G rs1590
NM_004612.3(TGFBR1):c.*69A>G rs868
NM_004612.3(TGFBR1):c.*884A>G rs334348
NM_004612.3(TGFBR1):c.1032T>C (p.Asn344=) rs192662552
NM_004612.3(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.3(TGFBR1):c.1152C>T (p.Leu384=) rs115324990
NM_004612.3(TGFBR1):c.1216T>C (p.Leu406=) rs200062984
NM_004612.3(TGFBR1):c.192A>G (p.Lys64=) rs112051451
NM_004612.4(TGFBR1):c.678A>G (p.Gly226=)

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.