ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Fulgent Genetics,Fulgent Genetics

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Total variants: 10
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HGVS dbSNP
NM_206933.3(USH2A):c.12067-2A>G rs397517978
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.1841-2A>G rs397518003
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.3(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910
NM_206933.3(USH2A):c.8559-2A>G rs397518039
NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045
NM_206933.3(USH2A):c.949C>A (p.Arg317=) rs111033272

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