List of variants studied for Usher syndrome type 2A by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr)	rs10779261	0.73169
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	rs199840367	0.00014
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.15520-1G>A	rs767265734	0.00002
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys)	rs772969352	0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	rs111033334	0.00001
NM_206933.4(USH2A):c.5776+1G>A	rs876657731	0.00001
NM_206933.4(USH2A):c.10511C>T (p.Pro3504Leu)
NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)	rs1360258103
NM_206933.4(USH2A):c.486-1G>C	rs876657730

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.