List of variants in gene VPS11 reported 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
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021729.6(VPS11):c.2394G>A (p.Glu798=)	rs189842591	0.00262
NM_021729.6(VPS11):c.2078T>C (p.Met693Thr)	rs146380141	0.00230
NM_021729.6(VPS11):c.2807A>C (p.His936Pro)	rs199817725	0.00084
NM_021729.6(VPS11):c.496T>C (p.Leu166=)	rs191133267	0.00077
NM_021729.6(VPS11):c.2316G>A (p.Arg772=)	rs148589781	0.00029
NM_021729.6(VPS11):c.1023C>T (p.Tyr341=)	rs199758476	0.00027
NM_021729.6(VPS11):c.637-4G>A	rs782586885	0.00007
NM_021729.6(VPS11):c.2553G>A (p.Ser851=)	rs782089766	0.00005
NM_021729.6(VPS11):c.1725C>T (p.Leu575=)	rs782324655	0.00001
NM_021729.6(VPS11):c.1152T>C (p.Ser384=)
NM_021729.6(VPS11):c.1418TCA[1] (p.Ile474del)
NM_021729.6(VPS11):c.187+137A>G	rs1945193403
NM_021729.6(VPS11):c.2219C>T (p.Ala740Val)	rs2134798637
NM_021729.6(VPS11):c.2301A>G (p.Thr767=)
NM_021729.6(VPS11):c.336+8C>T	rs1555201791
NM_021729.6(VPS11):c.579C>T (p.Ala193=)	rs1565737500

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.