ClinVar Miner

List of variants in gene LTBP2 reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000428.3(LTBP2):c.1012del (p.Ser338fs) rs1566636728
NM_000428.3(LTBP2):c.1243_1256del (p.Glu415fs) rs1566635134
NM_000428.3(LTBP2):c.1417del (p.Leu473fs) rs1566634475
NM_000428.3(LTBP2):c.1796dup (p.Val600fs) rs1566628109
NM_000428.3(LTBP2):c.331C>T (p.Gln111Ter) rs121918356
NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) rs137854856
NM_000428.3(LTBP2):c.412del (p.Ala138fs) rs1566660365
NM_000428.3(LTBP2):c.4313G>A (p.Cys1438Tyr) rs387907175
NM_000428.3(LTBP2):c.4855C>T (p.Gln1619Ter) rs387907174
NM_000428.3(LTBP2):c.5376del (p.Cys1793fs) rs137854895
NM_000428.3(LTBP2):c.5446dup (p.His1816fs) rs777661862
NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter) rs121918355

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.