List of variants reported as uncertain significance for aortic aneurysm, familial thoracic 6 by Illumina Laboratory Services, Illumina

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

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001141945.3(ACTA2):c.-23-3831T>C	rs552541075	0.00033
NM_001613.4(ACTA2):c.174C>T (p.Asp58=)	rs150547139	0.00015
NM_001613.4(ACTA2):c.201G>C (p.Leu67=)	rs199773697	0.00010
NM_001613.4(ACTA2):c.420G>A (p.Ala140=)	rs762567614	0.00004
NM_001613.4(ACTA2):c.390T>C (p.Asn130=)	rs141933412	0.00003
NM_001613.4(ACTA2):c.*43A>G	rs886047452	0.00001
NM_001613.4(ACTA2):c.-56C>T	rs886047454	0.00001
NM_001613.4(ACTA2):c.13G>C (p.Glu5Gln)	rs886047453	0.00001
NM_001613.4(ACTA2):c.258+5G>T	rs1304133915	0.00001
NM_001613.4(ACTA2):c.808+14G>A	rs774120023	0.00001
NM_001141945.3(ACTA2):c.-23-3850C>G	rs1846074147
NM_001613.4(ACTA2):c.*104C>G	rs956182522
NM_001613.4(ACTA2):c.*105G>T	rs149059995
NM_001613.4(ACTA2):c.24T>G (p.Thr8=)	rs1589400483
NM_001613.4(ACTA2):c.456C>T (p.Gly152=)	rs1845848773
NM_001613.4(ACTA2):c.645G>A (p.Lys215=)	rs1053760032

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.