List of variants reported as pathogenic for Leber congenital amaurosis 2 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00013
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	rs62653011	0.00007
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	rs121917745	0.00003
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	rs62636300	0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	rs61752895	0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	rs61752904	0.00001
NM_000329.3(RPE65):c.1067del (p.Asn356fs)	rs281865520

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