List of variants reported as pathogenic for Leber congenital amaurosis 1 by Laboratory of Genetics in Ophthalmology, Institut Imagine

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Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	rs61750168	0.00019
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)	rs748798324	0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)	rs61750161	0.00001
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)	rs281865409	0.00001
NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter)	rs1403798841	0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	rs61749670
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)	rs61749679
NM_000180.4(GUCY2D):c.1378+1G>A	rs1975751307
NM_000180.4(GUCY2D):c.1530del (p.Thr511fs)	rs1975768901
NM_000180.4(GUCY2D):c.1566+2T>C	rs61749683
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)	rs61749755
NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs)	rs1975665345
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs)	rs63749078
NM_000180.4(GUCY2D):c.1956+2T>A	rs61749758
NM_000180.4(GUCY2D):c.1957-1G>T	rs61749759
NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal)	rs1975890613
NM_000180.4(GUCY2D):c.2263+2T>C	rs1975893449
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs)	rs281865410
NM_000180.4(GUCY2D):c.2413-1G>C	rs1975923246
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter)	rs1341592819
NM_000180.4(GUCY2D):c.2577-2A>C	rs1975931968
NM_000180.4(GUCY2D):c.2770-1G>C	rs1975943461
NM_000180.4(GUCY2D):c.2770-2A>G	rs1975943416
NM_000180.4(GUCY2D):c.2899del (p.His967fs)	rs61750183
NM_000180.4(GUCY2D):c.2944+1del	rs61750185
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs)	rs1975957618
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)	rs281865408
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs)	rs281865411
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter)	rs61750194
NM_000180.4(GUCY2D):c.3219dup (p.Pro1074fs)	rs1374426388
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)	rs281865409
NM_000180.4(GUCY2D):c.501del (p.Ala168fs)	rs1975675766
NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs)	rs1975678842
NM_000180.4(GUCY2D):c.622del (p.Arg208fs)	rs61749671
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs)	rs61749663
NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter)	rs755999834

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