ClinVar Miner

List of variants in gene VPS13C reported as pathogenic for basal ganglia disorder

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020821.3(VPS13C):c.1111C>T (p.Arg371Ter) rs752457309 0.00002
NM_020821.3(VPS13C):c.10060G>T (p.Glu3354Ter) rs199723460
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg) rs369100678
NM_020821.3(VPS13C):c.4777del (p.Gln1593fs) rs869312811
NM_020821.3(VPS13C):c.5842_5843insATGA (p.Ile1948fs) rs2140234163
NM_020821.3(VPS13C):c.802_805dup (p.Arg269fs) rs869320761
NM_020821.3(VPS13C):c.806_807insCAGA (p.Arg269fs) rs879253853
NM_020821.3(VPS13C):c.8445+2T>G rs869312809
NM_020821.3(VPS13C):c.9568G>T (p.Glu3190Ter) rs869312810

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.