List of variants in gene CRB1 reported as benign for Pigmented paravenous retinochoroidal atrophy

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: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.1410A>G (p.Leu470=)	rs3902057	0.92528
NM_201253.3(CRB1):c.849-35T>C	rs1337167	0.82735
NM_201253.3(CRB1):c.2677-493A>G	rs7534863	0.41382
NM_201253.3(CRB1):c.71-12A>T	rs12042179	0.33853
NM_201253.3(CRB1):c.849-62T>G	rs1572514	0.23255
NM_201253.3(CRB1):c.*28T>C	rs41302107	0.07060
NM_201253.3(CRB1):c.2128+15A>C	rs75691013	0.01643
NM_201253.3(CRB1):c.2677-8C>T	rs73071678	0.00970
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)	rs59691602	0.00601
NM_201253.3(CRB1):c.*393T>C	rs147966959	0.00373
NM_201253.3(CRB1):c.600A>G (p.Thr200=)	rs77713666	0.00254
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)	rs62636287	0.00208
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)	rs151104285	0.00151
NM_201253.3(CRB1):c.2843-13C>T	rs199808176	0.00107
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)	rs62636285	0.00105
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)	rs144436610	0.00100
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met)	rs116246250	0.00066
NM_201253.3(CRB1):c.3750-3T>C	rs187937543	0.00063
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)	rs142224492	0.00051
NM_201253.3(CRB1):c.3878+15A>T	rs200217112	0.00046
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)	rs142090517	0.00044
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe)	rs140428156	0.00036
NM_201253.3(CRB1):c.2976A>G (p.Ala992=)	rs200379694	0.00035
NM_201253.3(CRB1):c.1428C>T (p.Thr476=)	rs62636282	0.00025
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)	rs150412614	0.00025
NM_201253.3(CRB1):c.1192G>A (p.Val398Ile)	rs144011428	0.00014
NM_201253.3(CRB1):c.2010T>C (p.Cys670=)	rs201949837	0.00005
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=)	rs780576185	0.00005
NM_201253.3(CRB1):c.1172-12A>G	rs146175509	0.00001
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)	rs750442312	0.00001
NM_201253.3(CRB1):c.989-53T>G	rs2786098

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.