ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn) rs747578300 0.00002
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp) rs764113446 0.00001
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu) rs1660298900 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.3812-2A>G rs758733024 0.00001
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val) rs1259758261
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe) rs1386612395
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs) rs1657996197
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly) rs1657992030
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter) rs1657965422
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val) rs1234273599
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu) rs755099565
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del) rs1657799383
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter) rs948087886
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) rs754834155
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer) rs1656646424
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter) rs2036152207
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser) rs2036149054
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.4(USH2A):c.3381del (p.Thr1128fs) rs2034948574
NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs) rs2034850724
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter) rs2034849647
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg) rs1553312493
NM_206933.4(USH2A):c.4628-2A>G rs2032462132
NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro) rs1558251712
NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu) rs1558251710
NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala) rs1558251708
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) rs760543320
NM_206933.4(USH2A):c.55del (p.Met19fs) rs2039692173
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr) rs2039616380
NM_206933.4(USH2A):c.5777-2A>C rs1064797136
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs) rs2030619513
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr) rs2038569132
NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr) rs1421761057
NM_206933.4(USH2A):c.7027del (p.Arg2343fs) rs1667316878
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu) rs1667316070
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter) rs1664490756
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter) rs1662772955
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801

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