ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.3(USH2A):c.10544A>G (p.Asp3515Gly) rs527236119
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.2444G>C (p.Cys815Ser) rs1558341842
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.3(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
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.5473G>T (p.Glu1825Ter) rs1571941589
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.9056-2A>G rs754970095
NM_206933.3(USH2A):c.9751T>C (p.Cys3251Arg) rs527236118
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val)
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp)
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu)
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe)
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly)
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val)
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu)
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter)
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer)
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser)
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn)
NM_206933.4(USH2A):c.377del (p.Ser126fs) rs1571805235
NM_206933.4(USH2A):c.3812-2A>G
NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) rs727503731
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.6835G>T (p.Asp2279Tyr)
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu)
NM_206933.4(USH2A):c.7588del (p.Glu2530fs)
NM_206933.4(USH2A):c.8559-2A>G rs397518039
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter)
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
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.