ClinVar Miner

List of variants in gene USH2A reported as pathogenic for Retinitis pigmentosa 39

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Total variants: 17
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HGVS dbSNP
NM_206933.2(USH2A):c.[12394del;14074G>A]
NM_206933.3(USH2A):c.10388-1G>C rs1553261478
NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.3(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.3(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.3(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.667dup (p.Ile223fs) rs1553253747
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.8089G>T (p.Glu2697Ter) rs1558146243
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043

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