List of variants in gene RPE65 reported by Cytogenetics and Genomics Laboratory, Medical University of South Carolina

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	rs1191496583	0.00013
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	rs1429137932	0.00008
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	rs1420672586	0.00003
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	rs62642583
NM_000329.3(RPE65):c.361dup (p.Ser121fs)	rs121918844
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	rs192907397

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