List of variants in gene USH2A reported as benign by PreventionGenetics, part of Exact Sciences

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: 33

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.504A>G (p.Thr168=)	rs4253963	0.61366
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)	rs10864198	0.58403
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr)	rs10864219	0.50009
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=)	rs2797234	0.33929
NM_206933.4(USH2A):c.1419C>T (p.Thr473=)	rs1805050	0.28143
NM_206933.4(USH2A):c.3812-8T>G	rs646094	0.20360
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)	rs11120616	0.19146
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=)	rs2820718	0.17214
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)	rs56110889	0.16907
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)	rs2009923	0.15011
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr)	rs56222536	0.10108
NM_206933.4(USH2A):c.6957+19A>G	rs6689120	0.09761
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=)	rs12404427	0.07727
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)	rs696723	0.06184
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp)	rs4129843	0.05402
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val)	rs1805048	0.04940
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)	rs41277200	0.04760
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=)	rs56053654	0.04404
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=)	rs61635304	0.04389
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala)	rs56032526	0.03269
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln)	rs12118814	0.03107
NM_206933.4(USH2A):c.5857+17A>C	rs74766738	0.01694
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)	rs45555435	0.01476
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=)	rs78250390	0.00976
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=)	rs12073994	0.00488
NM_206933.4(USH2A):c.8937A>G (p.Val2979=)	rs139100097	0.00404
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln)	rs150264392	0.00246
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)	rs111033479	0.00240
NM_206933.4(USH2A):c.1840+19C>G	rs886038764	0.00001
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)	rs35309576
NM_206933.4(USH2A):c.4252-15dup	rs770949401
NM_206933.4(USH2A):c.4252-36CTTT[5]	rs372388546

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.