ClinVar Miner

List of variants in gene USH2A reported as pathogenic for Usher syndrome, type 2A

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Total variants: 33
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HGVS dbSNP
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.3(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.11174del (p.Phe3725fs)
NM_206933.3(USH2A):c.11389+3A>T rs753886165
NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.3(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.3(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.3(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.3(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.3(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.3(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.3(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.3(USH2A):c.2983C>T (p.Gln995Ter) rs527236135
NM_206933.3(USH2A):c.3129dup (p.Val1044fs) rs786205115
NM_206933.3(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011
NM_206933.3(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) rs111033367
NM_206933.3(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.3(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.3(USH2A):c.485+3A>T rs1553258031
NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.779T>G (p.Leu260Ter) rs121912598
NM_206933.3(USH2A):c.8559-2A>G rs397518039
NM_206933.3(USH2A):c.8890dup (p.Trp2964fs) rs786205116
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.3(USH2A):c.9372-1G>A rs1558111861
NM_206933.3(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.3(USH2A):c.956G>A (p.Cys319Tyr) rs121912599

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