ClinVar Miner

List of variants in gene USH2A reported by Sharon lab,Hadassah-Hebrew University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln) rs758303489
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.3(USH2A):c.[12448A>G;5012G>A]
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.10211del (p.Pro3404fs) rs1571686349
NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn) rs1571681377
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs) rs1571953449
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg) rs750418422
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter) rs1571945476
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) rs748393788
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro) rs777701725
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu) rs45555435
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala) rs768158580
NM_206933.4(USH2A):c.377del (p.Ser126fs) rs1571805235
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val) rs1571941511
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) rs777682016
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg) rs1571762632
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn) rs1571715796
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048

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.