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

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter)	rs1318750068	0.00002
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)	rs748370008	0.00001
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter)	rs1182277140	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_001122769.3(LCA5):c.955G>A (p.Ala319Thr)	rs1178243254	0.00001
NM_001122769.3(LCA5):c.1099-1G>A
NM_001122769.3(LCA5):c.122del (p.Ser41fs)
NM_001122769.3(LCA5):c.1236G>A (p.Trp412Ter)
NM_001122769.3(LCA5):c.129dup (p.Ala44fs)
NM_001122769.3(LCA5):c.1378G>T (p.Glu460Ter)	rs2127665995
NM_001122769.3(LCA5):c.1545dup (p.Glu516fs)	rs1769703329
NM_001122769.3(LCA5):c.1550_1551del (p.Arg517fs)
NM_001122769.3(LCA5):c.1553T>A (p.Leu518Ter)
NM_001122769.3(LCA5):c.1673dup (p.Ser559fs)
NM_001122769.3(LCA5):c.1730dup (p.Leu577fs)
NM_001122769.3(LCA5):c.1795G>T (p.Glu599Ter)
NM_001122769.3(LCA5):c.1860_1861dup (p.Ser621fs)
NM_001122769.3(LCA5):c.190+1G>A	rs746351112
NM_001122769.3(LCA5):c.30dup (p.Asp11Ter)	rs1248460033
NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly)	rs1766318937
NM_001122769.3(LCA5):c.400_403del (p.Lys134fs)
NM_001122769.3(LCA5):c.41del (p.Arg14fs)
NM_001122769.3(LCA5):c.491A>G (p.His164Arg)
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs)	rs1286660951
NM_001122769.3(LCA5):c.550del (p.Ala184fs)	rs2127680021
NM_001122769.3(LCA5):c.686_687del (p.Glu229fs)
NM_001122769.3(LCA5):c.858+1G>C	rs753594556
NM_001122769.3(LCA5):c.887del (p.Asn296fs)
NM_001122769.3(LCA5):c.953dup (p.Asn318fs)	rs1429753961
NM_001122769.3(LCA5):c.955+1G>A
NM_181714.4(LCA5):c.1569_1582del (p.His523fs)

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