ClinVar Miner

List of variants reported as pathogenic for Retinitis pigmentosa by Department of Ophthalmology and Visual Sciences Kyoto University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498 0.00013
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068 0.00004
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr) rs121918581 0.00003
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067 0.00002
NM_000283.4(PDE6B):c.1467+1G>C rs527236089 0.00001
NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn) rs527236088 0.00001
NM_000539.3(RHO):c.520G>A (p.Gly174Ser) rs527236103 0.00001
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066 0.00001
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) rs121909076 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg) rs61755817
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.44A>G (p.Asn15Ser) rs104893786
NM_000539.3(RHO):c.562G>A (p.Gly188Arg) rs527236100
NM_000554.6(CRX):c.193G>C (p.Asp65His) rs527236062
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) rs527236092
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) rs527236064
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp) rs372989281
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) rs527236113
NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu) rs527236114
NM_152443.3(RDH12):c.778del (p.Glu260fs) rs527236099
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly) rs527236119
NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg) rs527236118

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.