List of variants in gene BEST1 reported as pathogenic for BEST1-related vitreoretinochoroidopathy

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)	rs121918286	0.00004
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu)	rs281865221
NM_004183.4(BEST1):c.256G>A (p.Val86Met)	rs121918289
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)	rs281865238
NM_004183.4(BEST1):c.704T>C (p.Val235Ala)	rs267606679
NM_004183.4(BEST1):c.707A>G (p.Tyr236Cys)	rs121918291
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)	rs28940570
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)	rs372989281

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.