List of variants in gene RPE65 reported as likely pathogenic for not provided

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00014
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	rs368088025	0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	rs62637004	0.00002
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)	rs1064795255	0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	rs61752883	0.00001
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	rs62636300
NM_000329.3(RPE65):c.1306G>A (p.Gly436Arg)	rs2100807345
NM_000329.3(RPE65):c.1307G>T (p.Gly436Val)	rs62637002
NM_000329.3(RPE65):c.1366del (p.Glu456fs)	rs786205444
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)	rs774211361
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	rs1571158279
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	rs62653015
NM_000329.3(RPE65):c.209T>C (p.Phe70Ser)	rs1645945363
NM_000329.3(RPE65):c.283G>C (p.Glu95Gln)	rs61752874
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)	rs1553153135

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