ClinVar Miner

List of variants in gene USH2A reported as likely benign for Usher syndrome, type 2A; Retinitis pigmentosa 39

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_206933.3(USH2A):c.10344A>G (p.Glu3448=) rs760725818
NM_206933.3(USH2A):c.10524C>A (p.Thr3508=) rs397517967
NM_206933.3(USH2A):c.1143+12C>T rs727505167
NM_206933.3(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.3(USH2A):c.14184C>T (p.Cys4728=) rs200934092
NM_206933.3(USH2A):c.14511C>T (p.Ile4837=) rs139847770
NM_206933.3(USH2A):c.14817G>A (p.Ser4939=) rs397517992
NM_206933.3(USH2A):c.14928C>G (p.Gly4976=) rs397517995
NM_206933.3(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610
NM_206933.3(USH2A):c.15105A>C (p.Thr5035=) rs762610249
NM_206933.3(USH2A):c.15144G>A (p.Ala5048=) rs397517998
NM_206933.3(USH2A):c.1550+10T>C rs200728788
NM_206933.3(USH2A):c.1623G>A (p.Glu541=) rs146805130
NM_206933.3(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.3(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.3(USH2A):c.3158-47_3158-17del rs1553315049
NM_206933.3(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.3(USH2A):c.6087A>T (p.Ala2029=) rs727503726
NM_206933.3(USH2A):c.6141G>A (p.Leu2047=) rs727505165
NM_206933.3(USH2A):c.6325+7390C>T rs207461108
NM_206933.3(USH2A):c.6486G>A (p.Gln2162=) rs397518025
NM_206933.3(USH2A):c.6513G>C (p.Gly2171=) rs876657629
NM_206933.3(USH2A):c.6806-9473C>A rs207461105
NM_206933.3(USH2A):c.6969A>C (p.Arg2323=) rs397518028
NM_206933.3(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.3(USH2A):c.8265T>C (p.Leu2755=) rs727505274
NM_206933.3(USH2A):c.8499T>C (p.Ser2833=) rs753719500
NM_206933.3(USH2A):c.9342A>G (p.Pro3114=) rs181961185

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.