List of variants studied for Leber congenital amaurosis by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	rs150726175	0.00087
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	rs62637014	0.00038
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	rs61751277	0.00004
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter)	rs768255532	0.00001
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)	rs758550675
NM_025114.4(CEP290):c.2390del (p.Lys797fs)	rs781670422

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