ClinVar Miner

List of variants in gene USH2A reported as uncertain significance for Retinal dystrophy

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Total variants: 16
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HGVS dbSNP
NM_206933.3(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.3(USH2A):c.11549-1G>A rs878853407
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12095G>T (p.Gly4032Val) rs878853409
NM_206933.3(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406
NM_206933.3(USH2A):c.2139C>T (p.Gly713=) rs765293412
NM_206933.3(USH2A):c.2705G>A (p.Cys902Tyr) rs780846352
NM_206933.3(USH2A):c.3158-2A>G rs878853404
NM_206933.3(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652
NM_206933.3(USH2A):c.4251+1G>A rs878853405
NM_206933.3(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.3(USH2A):c.6104G>A (p.Cys2035Tyr) rs878853403
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6326-1G>A rs878853411
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533

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