ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Human Genetics - Radboudumc,Radboudumc

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Total variants: 9
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HGVS dbSNP
NM_206933.2(USH2A):c.[12394del;14074G>A]
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.3(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043

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