List of variants reported as likely pathogenic for Leber congenital amaurosis by Natera, Inc.

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

Total variants: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4813-2A>G	rs369523378	0.00046
NM_025114.4(CEP290):c.4437+1G>A	rs760915898	0.00009
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)	rs527800020	0.00005
NM_025114.4(CEP290):c.4438-3del	rs747323414	0.00004
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	rs199683808	0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)	rs759408031	0.00002
NM_000329.3(RPE65):c.11+2T>G	rs778768116	0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	rs61752883	0.00001
NM_025114.4(CEP290):c.5012+2T>C	rs1369768287	0.00001
NM_025114.4(CEP290):c.6358-1G>A	rs766670248	0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)	rs1271816211	0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)	rs1451348539	0.00001
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs)	rs2100806889
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	rs62653015
NM_000329.3(RPE65):c.354-1G>A	rs2100827985
NM_025114.4(CEP290):c.1523-1G>T	rs1192112844
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)	rs1592807018
NM_025114.4(CEP290):c.5709+1G>A	rs759850328
NM_152443.3(RDH12):c.188-1G>A	rs2140142183
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)	rs368489658
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)	rs1239043055
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter)	rs2038317129
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)	rs62636266
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)	rs1085307972
NM_201253.3(CRB1):c.2843-1G>T	rs878853368
NM_201253.3(CRB1):c.71-2A>G	rs1383691293

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.