ClinVar Miner

List of variants in gene FBN2 reported as uncertain significance for Congenital contractural arachnodactyly; Macular degeneration, early-onset

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096
NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe) rs1581251031
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) rs148598779
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys) rs774250442
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142
NM_001999.4(FBN2):c.6511+5G>A rs200608284
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268
NM_001999.4(FBN2):c.8547A>G (p.Gln2849=) rs1561733846

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.