ClinVar Miner

List of variants in gene VPS13B reported by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_152564.5(VPS13B):c.7248-1G>A rs763079458 0.00003
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs) rs1554581504
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del) rs1554581821
NM_152564.5(VPS13B):c.292-7A>G rs1554612610
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter) rs1554814266
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.3881_3882del (p.Ile1294fs) rs2133609624
NM_152564.5(VPS13B):c.763-2118G>T
NM_152564.5(VPS13B):c.8206_8207dup (p.Phe2737fs)
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117

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.