List of variants in gene RPE65 reported as pathogenic by Faculty of Health Sciences, Beirut Arab University

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	rs61752871	0.00006
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	rs61751282	0.00004
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)	rs1645879569	0.00001
NM_000329.2:c.(?_-1)_(1128+1_1129-1)del
NM_000329.3(RPE65):c.1129-2A>G	rs1645826941
NM_000329.3(RPE65):c.1366del (p.Glu456fs)	rs786205444
NM_000329.3(RPE65):c.310G>C (p.Gly104Arg)	rs767478543
NM_000329.3(RPE65):c.515T>A (p.Val172Asp)	rs1645898413
NM_000329.3(RPE65):c.544C>T (p.His182Tyr)	rs61752884

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