List of variants reported as pathogenic for color vision disorder by 3billion, Medical Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_001298.3(CNGA3):c.62C>G (p.Ser21Ter)	rs1402442627	0.00002
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter)	rs757622521	0.00002
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp)	rs749842881	0.00001
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter)	rs762426409	0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)	rs764742792	0.00001
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)
NM_006204.4(PDE6C):c.2283+1G>T	rs760343056
NM_006204.4(PDE6C):c.2367+1_2367+5del	rs796051871
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)	rs748993388

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