List of variants reported as pathogenic for color vision disorder by Laboratory of Genetics in Ophthalmology, Institut Imagine

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp)	rs138958917	0.00008
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)	rs373862340	0.00007
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)	rs104893621	0.00003
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter)	rs777509481	0.00003
NM_019098.5(CNGB3):c.1663-1205G>A	rs1000861056	0.00002
NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer)	rs958089715
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter)	rs1692904914
NM_007348.4(ATF6):c.3G>T (p.Met1Ile)	rs915211840
NM_019098.5(CNGB3):c.1178+5G>T	rs1823236444
NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs)	rs1823849258

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