ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP
NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln) rs758303489
NM_206933.3(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.3(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.3(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.3(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.3(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.3(USH2A):c.4365T>G (p.Ser1455Arg) rs1553312493
NM_206933.3(USH2A):c.5777-2A>C rs1064797136
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.4(USH2A):c.10211del (p.Pro3404fs) rs1571686349
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs) rs1571953449
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter) rs1571945476
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter)
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs)
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val) rs1571941511
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)

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