List of variants reported as pathogenic for color vision disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)	rs141386891	0.00036
NM_001298.3(CNGA3):c.450-1G>A	rs754158805	0.00002
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter)	rs748981899	0.00001
NM_019098.5(CNGB3):c.1493del (p.Leu498fs)	rs773381712
NM_019098.5(CNGB3):c.2105del (p.Lys702fs)	rs2131529670
NM_019098.5(CNGB3):c.595del (p.Glu199fs)	rs1823778696

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