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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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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_001122769.3(LCA5):c.1756A>T (p.Lys586Ter)	rs772573829	0.00001
NM_001122769.3(LCA5):c.859-2A>G	rs757681601	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

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