ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.3(USH2A):c.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.3(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.3(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.3(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.3(USH2A):c.2444G>C (p.Cys815Ser) rs1558341842
NM_206933.3(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.3(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.3(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.3(USH2A):c.4365T>G (p.Ser1455Arg) rs1553312493
NM_206933.3(USH2A):c.4943T>C (p.Leu1648Pro) rs1558251712
NM_206933.3(USH2A):c.4946G>A (p.Gly1649Glu) rs1558251710
NM_206933.3(USH2A):c.4949G>C (p.Gly1650Ala) rs1558251708
NM_206933.3(USH2A):c.5777-2A>C rs1064797136
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val)
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp)
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu)
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe)
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly)
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val)
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu)
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter)
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer)
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.1986T>A (p.Cys662Ter)
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser)
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn)
NM_206933.4(USH2A):c.3812-2A>G
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs)
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)
NM_206933.4(USH2A):c.4628-2A>G
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) rs760543320
NM_206933.4(USH2A):c.55del (p.Met19fs)
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)
NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr)
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu)
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter)
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.