List of variants in gene RPE65 reported as 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: 23

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	rs61752877	0.00013
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	rs61752873	0.00011
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	rs774130993	0.00009
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	rs62653011	0.00008
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	rs61752871	0.00006
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	rs61751277	0.00004
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	rs61751281	0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	rs121917745	0.00003
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	rs368088025	0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	rs62642584	0.00002
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	rs61752896	0.00002
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	rs61752909	0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	rs61752904	0.00001
NM_000329.3(RPE65):c.95-2A>T	rs61751279	0.00001
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)	rs761471961	0.00001
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	rs62642583
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	rs281865520
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)	rs62636295
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)	rs1645823028
NM_000329.3(RPE65):c.149_150del (p.Leu49_Phe50insTer)	rs886042807
NM_000329.3(RPE65):c.886dup (p.Arg296fs)	rs746127684
NM_000329.3(RPE65):c.893del (p.Lys298fs)	rs61752902

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