List of variants in gene RPE65 reported as likely pathogenic for Retinitis pigmentosa 20

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00014
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)	rs767528365	0.00012
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)	rs768445391	0.00004
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)	rs750724065	0.00001
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)	rs281865285	0.00001
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)	rs1645879569	0.00001
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)	rs62637006
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)	rs62637007
NM_000329.3(RPE65):c.1451-1G>A	rs1317871521
NM_000329.3(RPE65):c.252_253delinsTA (p.Arg85Ser)
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	rs192907397
NM_000329.3(RPE65):c.89dup (p.Thr31fs)	rs281865286
NM_000329.3(RPE65):c.908_999-169del

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