List of variants in gene RPE65 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00014
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	rs61752873	0.00011
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	rs62653011	0.00008
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	rs62642584	0.00002
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	rs61752909	0.00001
NM_000329.3(RPE65):c.1307G>T (p.Gly436Val)	rs62637002
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.718G>T (p.Val240Phe)	rs192907397
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)	rs988133284

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