ClinVar Miner

List of variants in gene FBLN1 reported as likely benign for FBLN1-related disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006486.3(FBLN1):c.1209C>T (p.Cys403=) rs140586412 0.00183
NM_006486.3(FBLN1):c.1925G>T (p.Arg642Leu) rs143377110 0.00102
NM_006486.3(FBLN1):c.1662C>T (p.Phe554=) rs138534271 0.00080
NM_006486.3(FBLN1):c.450C>T (p.Thr150=) rs141549958 0.00036
NM_006486.3(FBLN1):c.1080C>T (p.Cys360=) rs138497040 0.00033
NM_006486.3(FBLN1):c.1973-5C>T rs376739185 0.00033
NM_006486.3(FBLN1):c.1221C>T (p.Pro407=) rs375160844 0.00030
NM_006486.3(FBLN1):c.1369G>A (p.Val457Ile) rs367929911 0.00019
NM_006486.3(FBLN1):c.490A>G (p.Ile164Val) rs145471003 0.00019
NM_006486.3(FBLN1):c.1698-11497C>T rs761425321 0.00010
NM_006486.3(FBLN1):c.1012G>A (p.Val338Met) rs766511464 0.00008
NM_006486.3(FBLN1):c.1663G>A (p.Glu555Lys) rs774274010 0.00004
NM_006486.3(FBLN1):c.1146C>T (p.Cys382=) rs371901304 0.00003
NM_006486.3(FBLN1):c.1697+7447C>T rs1181646978 0.00001
NM_006486.3(FBLN1):c.1827C>T (p.Phe609=) rs761267107 0.00001
NM_006486.3(FBLN1):c.1866G>A (p.Thr622=) rs368050507 0.00001
NM_006486.3(FBLN1):c.1282G>T (p.Val428Leu) rs200614579
NM_006486.3(FBLN1):c.1698-11326C>T rs370127098
NM_006486.3(FBLN1):c.1698-11442C>T rs1356866442
NM_006486.3(FBLN1):c.1771G>A (p.Asp591Asn)
NM_006486.3(FBLN1):c.1776C>T (p.Pro592=)
NM_006486.3(FBLN1):c.79+6G>A rs2518125760

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.