ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 1q41(chr1:216173745-216500996)x1
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
GRCh37/hg19 1q41(chr1:216462622-216465712)x1
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.15353del (p.Asn5118fs) rs1553248224
NM_206933.3(USH2A):c.15520-1G>A rs767265734
NM_206933.3(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.3(USH2A):c.5167+1G>C rs794727408
NM_206933.3(USH2A):c.5777-2A>C rs1064797136
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.3(USH2A):c.9048C>A (p.Cys3016Ter) rs1057519208
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.264C>A (p.Cys88Ter)
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
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.