ClinVar Miner

List of variants in gene CYGB, PRCD studied for retinitis pigmentosa

Included ClinVar conditions (154):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001077620.3(PRCD):c.*1397A>G rs4232870 0.47066
NM_001077620.3(PRCD):c.*1405C>T rs4648339 0.27446
NM_001077620.3(PRCD):c.*760C>T rs2278639 0.25158
NM_001077620.3(PRCD):c.*1439T>C rs5742903 0.22457
NM_001077620.3(PRCD):c.*1185A>C rs895157 0.19185
NM_001077620.3(PRCD):c.*933G>A rs73998961 0.03370
NM_001077620.3(PRCD):c.74+14C>T rs200645008 0.00674
NM_001077620.3(PRCD):c.*1259G>A rs144852411 0.00616
NM_001077620.3(PRCD):c.*1186G>A rs568033840 0.00609
NM_001077620.3(PRCD):c.*1618C>T rs77404579 0.00535
NM_001077620.3(PRCD):c.*1097T>A rs76768775 0.00488
NM_001077620.3(PRCD):c.*266C>T rs72860161 0.00403
NM_001077620.3(PRCD):c.*1650T>C rs185494982 0.00306
NM_001077620.3(PRCD):c.*1238G>A rs189599263 0.00292
NM_001077620.3(PRCD):c.*1480C>G rs139602114 0.00286
NM_001077620.3(PRCD):c.*1508C>T rs181845864 0.00200
NM_001077620.3(PRCD):c.*265C>T rs541445094 0.00151
NM_001077620.3(PRCD):c.*932C>T rs117784164 0.00068
NM_001077620.3(PRCD):c.*115G>A rs758393407 0.00038
NM_001077620.3(PRCD):c.*477C>T rs965177016 0.00034
NM_001077620.3(PRCD):c.*1347C>T rs780340686 0.00022
NM_001077620.3(PRCD):c.-82T>C rs1011242073 0.00015
NM_001077620.3(PRCD):c.*881G>A rs757028440 0.00014
NM_001077620.3(PRCD):c.*687G>A rs550804575 0.00012
NM_001077620.3(PRCD):c.13C>G (p.Leu5Val) rs200954045 0.00012
NM_001077620.3(PRCD):c.*260C>T rs773379904 0.00010
NM_001077620.3(PRCD):c.75-3C>G rs200091367 0.00006
NM_001077620.3(PRCD):c.*1343C>T rs886053481 0.00005
NM_001077620.3(PRCD):c.*1410G>C rs374415732 0.00005
NM_001077620.3(PRCD):c.*1188C>T rs887925408 0.00004
NM_001077620.3(PRCD):c.*749C>T rs776196684 0.00004
NM_001077620.3(PRCD):c.*907G>A rs750306157 0.00004
NM_001077620.3(PRCD):c.-94G>A rs892886625 0.00004
NM_001077620.3(PRCD):c.*1010G>A rs971307074 0.00003
NM_001077620.3(PRCD):c.*578C>G rs756335948 0.00003
NM_001077620.3(PRCD):c.*1061C>T rs552803584 0.00002
NM_001077620.3(PRCD):c.*1411G>A rs773610638 0.00002
NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) rs387907268 0.00002
NM_001077620.3(PRCD):c.*1509G>A rs777248455 0.00001
NM_001077620.3(PRCD):c.*413A>G rs775233504 0.00001
NM_001077620.3(PRCD):c.*605G>A rs886053477 0.00001
NM_001077620.3(PRCD):c.*764C>T rs886053479 0.00001
NM_001077620.3(PRCD):c.49C>T (p.Arg17Cys) rs375181336 0.00001
NM_001077620.3(PRCD):c.74+1G>A rs779066277 0.00001
NM_001077620.3(PRCD):c.*1002G>A rs1229301103
NM_001077620.3(PRCD):c.*1247C>A rs886053480
NM_001077620.3(PRCD):c.*1268C>A rs572748485
NM_001077620.3(PRCD):c.*1714C>T rs886053482
NM_001077620.3(PRCD):c.*241G>A rs1361539486
NM_001077620.3(PRCD):c.*248A>G rs886053475
NM_001077620.3(PRCD):c.*590C>A rs144319284
NM_001077620.3(PRCD):c.*643C>T rs745814897
NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)
NM_001077620.3(PRCD):c.114C>T (p.Ser38=) rs2074979029
NM_001077620.3(PRCD):c.143+1G>A rs2074979676
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) rs527236092
NM_001077620.3(PRCD):c.5G>A (p.Cys2Tyr) rs121918369
NM_001077620.3(PRCD):c.73C>A (p.Pro25Thr) rs2074970792
NM_001077620.3(PRCD):c.74+36C>G rs77817682
NM_001077620.3(PRCD):c.75-10C>A rs886053474
NM_001077620.3(PRCD):c.85G>C (p.Asp29His) rs372084413

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.