List of variants in gene RPE65 studied for Leber congenital amaurosis

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

Total variants: 13

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HGVS	dbSNP
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	rs62642583
NM_000329.3(RPE65):c.*735del	rs577675068
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)	rs1553152989
NM_000329.3(RPE65):c.1243+10T>C	rs548537552
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	rs1420672586
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
NM_000329.3(RPE65):c.227A>C (p.His76Pro)	rs1571172233
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	rs1429137932
NM_000329.3(RPE65):c.361dup (p.Ser121fs)	rs121918844
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	rs1191496583
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	rs192907397
NM_000329.3(RPE65):c.95-2A>T	rs61751279
NM_000329.3(RPE65):c.[1067dup];[1543C>T]

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