ClinVar Miner

List of variants in gene FBLN5 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_006329.3(FBLN5):c.*121C>T
NM_006329.3(FBLN5):c.*363C>T rs536827304
NM_006329.3(FBLN5):c.*419G>C
NM_006329.3(FBLN5):c.*426C>T
NM_006329.3(FBLN5):c.*458T>C rs886050887
NM_006329.3(FBLN5):c.*648G>A rs182435130
NM_006329.3(FBLN5):c.*653G>A rs886050886
NM_006329.3(FBLN5):c.*775A>C rs886050885
NM_006329.3(FBLN5):c.*77T>A
NM_006329.3(FBLN5):c.*98G>A rs568348723
NM_006329.3(FBLN5):c.-139C>T rs554315938
NM_006329.3(FBLN5):c.-382C>G rs886050890
NM_006329.3(FBLN5):c.-389C>A rs886050891
NM_006329.3(FBLN5):c.-413C>T rs886050892
NM_006329.3(FBLN5):c.-428G>C rs886050893
NM_006329.3(FBLN5):c.-77C>G
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073
NM_006329.3(FBLN5):c.1063G>C (p.Val355Leu)
NM_006329.3(FBLN5):c.1183C>T (p.Arg395Trp) rs372650987
NM_006329.3(FBLN5):c.1191G>A (p.Thr397=) rs148660796
NM_006329.3(FBLN5):c.124+8C>A
NM_006329.3(FBLN5):c.1241G>A (p.Arg414Gln)
NM_006329.3(FBLN5):c.251A>G (p.Tyr84Cys) rs886050889
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser) rs144288844
NM_006329.3(FBLN5):c.273G>A (p.Pro91=)
NM_006329.3(FBLN5):c.336A>G (p.Ile112Met)
NM_006329.3(FBLN5):c.388G>A (p.Glu130Lys) rs886050888
NM_006329.3(FBLN5):c.573A>G (p.Thr191=)
NM_006329.3(FBLN5):c.676G>A (p.Gly226Ser) rs747288805
NM_006329.3(FBLN5):c.726C>G (p.Gly242=)
NM_006329.3(FBLN5):c.862+12C>T rs202088447
NM_006329.3(FBLN5):c.901C>A (p.Leu301Met)
NM_006329.3(FBLN5):c.989+9C>T rs557362799

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.