ClinVar Miner

List of variants in gene PCARE reported as benign for Retinitis pigmentosa

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.*2585A>G rs7570356 0.98340
NM_001029883.3(PCARE):c.*2929T>C rs11683284 0.93001
NM_001029883.3(PCARE):c.*2670T>C rs10185075 0.84450
NM_001029883.3(PCARE):c.*2754A>G rs10187620 0.55841
NM_001029883.3(PCARE):c.*1542A>G rs719691 0.55697
NM_001029883.3(PCARE):c.*2104T>C rs1562391 0.54027
NM_001029883.3(PCARE):c.*2160G>A rs1562392 0.53975
NM_001029883.3(PCARE):c.*2022G>A rs4464231 0.53604
NM_001029883.3(PCARE):c.*1663C>T rs958584 0.51823
NM_001029883.3(PCARE):c.*2525G>A rs7607027 0.48359
NM_001029883.3(PCARE):c.*506T>C rs10194257 0.33732
NM_001029883.3(PCARE):c.*1065A>G rs17007529 0.31909
NM_001029883.3(PCARE):c.*1226A>G rs59633688 0.31897
NM_001029883.3(PCARE):c.*508A>G rs10196859 0.30812
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) rs10200693 0.30236
NM_001029883.3(PCARE):c.1452C>T (p.Ser484=) rs13385188 0.29962
NM_001029883.3(PCARE):c.*830C>A rs13016696 0.29075
NM_001029883.3(PCARE):c.*27G>A rs10182566 0.28227
NM_001029883.3(PCARE):c.*2279G>A rs1562393 0.19995
NM_001029883.3(PCARE):c.*1371G>A rs57505815 0.16892
NM_001029883.3(PCARE):c.*543C>T rs10495767 0.16301
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913 0.16186
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) rs17744093 0.15871
NM_001029883.3(PCARE):c.60G>A (p.Gln20=) rs35929540 0.15707
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) rs34253433 0.15556
NM_001029883.3(PCARE):c.258G>A (p.Arg86=) rs62132765 0.15123
NM_001029883.3(PCARE):c.*2481G>A rs17692899 0.13366
NM_001029883.3(PCARE):c.3668+14T>C rs72861052 0.06996
NM_001029883.3(PCARE):c.37A>T (p.Ser13Cys) rs10084168 0.05626
NM_001029883.3(PCARE):c.1262A>G (p.Lys421Arg) rs17007544 0.05074
NM_001029883.3(PCARE):c.*3057C>T rs75634215 0.04854
NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537 0.03342
NM_001029883.3(PCARE):c.*1912T>A rs72861027 0.03304
NM_001029883.3(PCARE):c.2889C>T (p.Ser963=) rs144569618 0.02252
NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp) rs77003681 0.01424
NM_001029883.3(PCARE):c.3840G>A (p.Ala1280=) rs115730331 0.00993
NM_001029883.3(PCARE):c.1942G>A (p.Ala648Thr) rs75276619 0.00938
NM_001029883.3(PCARE):c.773G>T (p.Arg258Ile) rs116156338 0.00898
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963 0.00653
NM_001029883.3(PCARE):c.3761C>T (p.Pro1254Leu) rs1975713 0.00587
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796 0.00140
NM_001029883.3(PCARE):c.1882G>A (p.Ala628Thr) rs571059484 0.00001
NM_001029883.3(PCARE):c.*2629G>A rs116529628
NM_001029883.3(PCARE):c.1387G>T (p.Val463Phe) rs199764925

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.