ClinVar Miner

List of variants reported as pathogenic for BEST1-related dominant retinopathy by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (3):

Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2
Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Retinitis pigmentosa 50
Vitelliform macular dystrophy 2

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

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.58C>G (p.Leu20Val)	rs1591266379
NM_004183.4(BEST1):c.904G>A (p.Asp302Asn)	rs281865262
NM_004183.4(BEST1):c.905A>C (p.Asp302Ala)	rs281865263

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.