List of variants in gene PRPH2 reported as uncertain significance for Cone-rod dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.-60C>T	rs144011444	0.00211
NM_000322.5(PRPH2):c.*351G>A	rs551934443	0.00075
NM_000322.5(PRPH2):c.*1408G>C	rs573667549	0.00050
NM_000322.5(PRPH2):c.*592A>T	rs573416213	0.00042
NM_000322.5(PRPH2):c.*661G>A	rs753202254	0.00020
NM_000322.5(PRPH2):c.*1299C>T	rs535380944	0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)	rs563581127	0.00019
NM_000322.5(PRPH2):c.-166G>A	rs886061407	0.00017
NM_000322.5(PRPH2):c.252C>T (p.Asp84=)	rs139936445	0.00017
NM_000322.5(PRPH2):c.*350C>T	rs769850707	0.00009
NM_000322.5(PRPH2):c.*743G>A	rs941727712	0.00009
NM_000322.5(PRPH2):c.*626A>G	rs1383185417	0.00008
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)	rs183714869	0.00005
NM_000322.5(PRPH2):c.*417A>T	rs531859483	0.00004
NM_000322.5(PRPH2):c.*917G>A	rs185036139	0.00004
NM_000322.5(PRPH2):c.*692C>T	rs949736334	0.00003
NM_000322.5(PRPH2):c.-59G>A	rs886061405	0.00003
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)	rs543703718	0.00003
NM_000322.5(PRPH2):c.801C>T (p.Val267=)	rs189358082	0.00002
NM_000322.5(PRPH2):c.937C>T (p.Pro313Ser)	rs746742888	0.00002
NM_000322.5(PRPH2):c.*1000C>G	rs1367940496	0.00001
NM_000322.5(PRPH2):c.*1007C>A	rs886061400	0.00001
NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly)	rs1351857575	0.00001
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser)	rs140227298	0.00001
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu)	rs772861671	0.00001
NM_000322.5(PRPH2):c.852C>A (p.Arg284=)	rs745807357	0.00001
NM_000322.5(PRPH2):c.*152G>C	rs113384495
NM_000322.5(PRPH2):c.*1533A>G	rs1799950043
NM_000322.5(PRPH2):c.*154C>T	rs886061403
NM_000322.5(PRPH2):c.*1580C>G	rs886061399
NM_000322.5(PRPH2):c.*213A>C	rs886061402
NM_000322.5(PRPH2):c.-116C>G	rs886061406
NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser)	rs1799983757
NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys)	rs769939935
NM_000322.5(PRPH2):c.521G>C (p.Trp174Ser)	rs1761906296
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val)	rs886061404
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)	rs1582759492

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.