List of variants in gene LCA5 reported as pathogenic for retinal disorder

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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: 37

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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.401A>C (p.Lys134Thr)	rs200395970	0.00003
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)	rs748370008	0.00001
NM_001122769.3(LCA5):c.142A>T (p.Arg48Ter)	rs1766524422	0.00001
NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter)	rs772573829	0.00001
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)	rs781035395	0.00001
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)	rs151017794	0.00001
NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter)	rs1453987164	0.00001
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)	rs1178243254	0.00001
NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter)	rs183261547
NM_001122769.3(LCA5):c.1062C>G (p.Tyr354Ter)	rs183261547
NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer)	rs1769845495
NM_001122769.3(LCA5):c.1151del (p.Pro384fs)	rs386834252
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)	rs765473119
NM_001122769.3(LCA5):c.1186G>T (p.Glu396Ter)	rs1769761816
NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter)	rs1268307330
NM_001122769.3(LCA5):c.1368dup (p.Glu457fs)	rs2127666004
NM_001122769.3(LCA5):c.1466del (p.Leu489fs)	rs1240302846
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs)	rs386834253
NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter)	rs1769706250
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)	rs766143193
NM_001122769.3(LCA5):c.1819_1820del (p.Gln607fs)
NM_001122769.3(LCA5):c.1823del (p.Leu608fs)
NM_001122769.3(LCA5):c.346C>T (p.Gln116Ter)
NM_001122769.3(LCA5):c.42_45del (p.Lys15fs)
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs)	rs1286660951
NM_001122769.3(LCA5):c.527_529del (p.Arg176del)	rs1766311895
NM_001122769.3(LCA5):c.535_536insT (p.Gln179fs)	rs1766311263
NM_001122769.3(LCA5):c.536_537insT (p.Gln179fs)	rs1766311095
NM_001122769.3(LCA5):c.574dup (p.Thr192fs)	rs1057519136
NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter)	rs1766298401
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs)	rs878853382
NM_001122769.3(LCA5):c.69C>A (p.Tyr23Ter)
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)	rs1769904494
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)	rs866395428
NM_001122769.3(LCA5):c.858+1G>C	rs753594556
NM_001122769.3(LCA5):c.93del (p.Gln31fs)	rs1766528592

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