List of variants in gene CRB1 reported as likely 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: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.2306G>A (p.Arg769His)	rs62636287	0.00208
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys)	rs151092557	0.00122
NM_201253.3(CRB1):c.484G>A (p.Val162Met)	rs137853138	0.00106
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)	rs62636285	0.00078
NM_201253.3(CRB1):c.1647T>C (p.Asn549=)	rs62636283	0.00064
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)	rs62645749	0.00049
NM_201253.3(CRB1):c.866C>T (p.Thr289Met)	rs62636263	0.00025
NM_201253.3(CRB1):c.1986A>G (p.Ser662=)	rs115400822	0.00021
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)	rs114846212	0.00014
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)	rs114052315	0.00011
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=)	rs62636284	0.00010
NM_201253.3(CRB1):c.1305A>T (p.Gly435=)	rs34813822	0.00009
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala)	rs533227950	0.00007
NM_201253.3(CRB1):c.3534C>T (p.Ile1178=)	rs753331276	0.00005
NM_201253.3(CRB1):c.1014C>A (p.Ile338=)	rs771549675	0.00004
NM_201253.3(CRB1):c.2874C>T (p.Ser958=)	rs372778560	0.00003
NM_201253.3(CRB1):c.867G>A (p.Thr289=)	rs147244321	0.00002
NM_201253.3(CRB1):c.1206T>C (p.Ser402=)	rs373229699	0.00001
NM_201253.3(CRB1):c.1995T>C (p.Asn665=)	rs774597710	0.00001
NM_201253.3(CRB1):c.265C>T (p.Pro89Ser)	rs145525029	0.00001
NM_201253.3(CRB1):c.2715G>A (p.Arg905=)	rs534108312	0.00001
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)	rs62645757	0.00001
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=)	rs753097155	0.00001
NM_201253.3(CRB1):c.2843-3dup	rs776525385
NM_201253.3(CRB1):c.4005+4AGC[3]	rs550852869
NM_201253.3(CRB1):c.579T>C (p.Asp193=)	rs1382054822

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.