ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803 0.00009
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720 0.00001
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser) rs1554202833
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly) rs1554163939
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter) rs1553257498
NM_206933.4(USH2A):c.12695C>A (p.Pro4232Gln) rs745371873
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala) rs1188281491
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992

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.