List of variants in gene VPS13A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)	rs117320408	0.00061
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn)	rs148891181	0.00026
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser)	rs200107412	0.00016
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His)	rs141321409	0.00014
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)	rs370401336	0.00002
NM_033305.3(VPS13A):c.7288A>C (p.Ser2430Arg)	rs780622922	0.00001
NM_033305.3(VPS13A):c.7690G>A (p.Ala2564Thr)	rs1002740657	0.00001
NM_033305.3(VPS13A):c.1012G>T (p.Val338Phe)
NM_033305.3(VPS13A):c.2051G>C (p.Ser684Thr)
NM_033305.3(VPS13A):c.2500G>C (p.Val834Leu)	rs201567434
NM_033305.3(VPS13A):c.4735A>G (p.Ile1579Val)
NM_033305.3(VPS13A):c.5855A>C (p.Asp1952Ala)
NM_033305.3(VPS13A):c.5944G>C (p.Asp1982His)
NM_033305.3(VPS13A):c.6317A>G (p.His2106Arg)
NM_033305.3(VPS13A):c.6867A>T (p.Lys2289Asn)	rs2131507554
NM_033305.3(VPS13A):c.8588T>C (p.Leu2863Pro)	rs986562076
NM_033305.3(VPS13A):c.932A>C (p.Asn311Thr)

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.