List of variants reported as uncertain significance for achromatopsia by Genome-Nilou Lab

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe)	rs61754627	0.00009
NM_001377295.2(GNAT2):c.818T>A (p.Leu273His)	rs368906691	0.00003
NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys)	rs754414120	0.00002
NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr)	rs753014058	0.00001
NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met)	rs200316722	0.00001
NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys)	rs140788789	0.00001
NM_001377295.2(GNAT2):c.281A>C (p.Asp94Ala)
NM_001377295.2(GNAT2):c.845A>C (p.His282Pro)	rs779967692
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)	rs758914061

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