ClinVar Miner

List of variants studied for Congenital aneurysm of ascending aorta

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg) rs761892127 0.00010
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041 0.00005
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn) rs1050298581 0.00001
NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg) rs1553508473
NM_002474.3(MYH11):c.2222T>C (p.Met741Thr) rs1555560373
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln) rs749181134
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_005902.4(SMAD3):c.271C>T (p.Leu91=)
NM_005902.4(SMAD3):c.715G>T (p.Glu239Ter) rs387906853
XM_005247492.1:c.2736delG

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.