List of variants in gene RPE65 reported as likely pathogenic for Leber congenital amaurosis 1

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	rs1191496583	0.00014
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	rs1429137932	0.00009
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	rs61751277	0.00004
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	rs1420672586	0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	rs199683808	0.00002
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	rs61752909	0.00001
NM_000329.3(RPE65):c.11+2T>G	rs778768116	0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)	rs62636298	0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	rs61752883	0.00001
NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)	rs1553152989
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	rs62636300
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.246-11A>G	rs905365719
NM_000329.3(RPE65):c.354-1G>A	rs2100827985
NM_000329.3(RPE65):c.644-2A>G
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	rs192907397
NM_000329.3(RPE65):c.[1067dup];[1543C>T]

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