List of variants in gene USH2A reported as uncertain significance by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	rs368675850	0.00004
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)	rs727504652	0.00003
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)	rs878853406	0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=)	rs765293412	0.00001
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly)	rs766505885
NM_206933.4(USH2A):c.11549-1G>A	rs878853407
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val)	rs878853409
NM_206933.4(USH2A):c.3158-2A>G	rs878853404
NM_206933.4(USH2A):c.4251+1G>A	rs878853405
NM_206933.4(USH2A):c.6104G>A (p.Cys2035Tyr)	rs878853403
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)	rs878853412
NM_206933.4(USH2A):c.6326-1G>A	rs878853411
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)	rs869312182

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