List of variants reported as pathogenic for blindness (disorder) by Fulgent Genetics, Fulgent Genetics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000541.5(SAG):c.577C>T (p.Arg193Ter)	rs201153410	0.00020
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	rs61750168	0.00019
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met)	rs201747279	0.00019
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp)	rs138958917	0.00008
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)	rs104893620	0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)	rs373862340	0.00007
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)	rs201452975	0.00004
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)	rs373037737	0.00003
NM_019098.5(CNGB3):c.1578+1G>A	rs372006750	0.00002
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)	rs970768801	0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A	rs886044841	0.00001
NM_019098.5(CNGB3):c.644-1G>C	rs201794629	0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	rs61749670
NM_000283.4(PDE6B):c.2193+1G>A	rs727504075
NM_000539.3(RHO):c.68C>A (p.Pro23His)	rs104893768
NM_019098.5(CNGB3):c.1579-1G>A	rs1057516504
NM_019098.5(CNGB3):c.595del (p.Glu199fs)	rs1823778696

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