List of variants in gene LCA5 reported as pathogenic for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	rs121918165	0.00006
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)	rs781035395	0.00001
NM_001122769.3(LCA5):c.2T>C (p.Met1Thr)	rs1331645027	0.00001
NM_001122769.3(LCA5):c.1151del (p.Pro384fs)	rs386834252
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)	rs765473119
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)	rs766143193
NM_001122769.3(LCA5):c.439_449dup (p.Phe150_Glu151insTer)
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)	rs1769904494
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)	rs866395428

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