ClinVar Miner

List of variants in gene GUCY2D reported as pathogenic for Leber congenital amaurosis 1

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Total variants: 13
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GUCY2D, 1-BP DEL, 2943G
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.3(GUCY2D):c.1561C>T (p.Arg521Ter)
NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.3(GUCY2D):c.2114-27_2263+18del rs1555635550
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782
NM_000180.3(GUCY2D):c.2377delG (p.Glu793Asnfs) rs1555635668
NM_000180.3(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.3(GUCY2D):c.3233_3236dupACCA (p.His1079Glnfs) rs386834239
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671

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