List of variants in gene RPE65 reported as uncertain significance 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)	rs61752878	0.00103
NM_000329.3(RPE65):c.565G>A (p.Val189Ile)	rs752990312	0.00005
NM_000329.3(RPE65):c.1243+10T>C	rs548537552	0.00002
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	rs61752883	0.00001
NM_000329.3(RPE65):c.547A>G (p.Ile183Val)	rs1010958875	0.00001
NM_000329.3(RPE65):c.1128G>A (p.Lys376=)
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser)	rs774130993
NM_000329.3(RPE65):c.1282G>T (p.Gly428Trp)	rs2100807435
NM_000329.3(RPE65):c.1348C>G (p.Leu450Val)	rs2100807072
NM_000329.3(RPE65):c.350C>T (p.Ser117Phe)	rs2100828189
NM_000329.3(RPE65):c.644-5T>A	rs2100819923

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