ClinVar Miner

List of variants in gene VPS13A reported by OMIM

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_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) rs779746050 0.00008
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) rs119477053 0.00001
NG_008931.2:g.(188110_192927)_(194341_195522)del
NG_008931.2:g.(?_87553)_(87693_?)del
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter) rs761923202
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys) rs119477052
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr) rs1587653832

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.