List of variants studied for Leber congenital amaurosis by Counsyl

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.1338+20A>C	rs12564647	0.03055
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)	rs34627040	0.02403
NM_000329.3(RPE65):c.1155G>A (p.Thr385=)	rs62653014	0.00481
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)	rs61752901	0.00232
NM_000329.3(RPE65):c.978G>T (p.Val326=)	rs61752907	0.00186
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)	rs61752878	0.00103
NM_000329.3(RPE65):c.48T>C (p.Phe16=)	rs62642581	0.00059
NM_000329.3(RPE65):c.644-42del	rs61752893	0.00039
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	rs61752871	0.00006
NM_000329.3(RPE65):c.95-2A>T	rs61751279	0.00001
NM_000329.3(RPE65):c.1302G>A (p.Ala434=)	rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=)	rs62636301
NM_000329.3(RPE65):c.644-43del	rs61752894
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)	rs1553153135
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)	rs1169420841

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