List of variants reported as pathogenic for color vision disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 21

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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.967G>C (p.Ala323Pro)	rs146195955	0.00033
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val)	rs747447519	0.00010
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln)	rs104893614	0.00010
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp)	rs137852608	0.00004
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)	rs552069173	0.00004
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)	rs104893621	0.00003
NM_001298.3(CNGA3):c.1705C>T (p.Arg569Cys)	rs757167624	0.00003
NM_001298.3(CNGA3):c.1706G>A (p.Arg569His)	rs201782746	0.00003
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr)	rs761554853	0.00003
NM_001298.3(CNGA3):c.830G>A (p.Arg277His)	rs778114016	0.00002
NC_000008.10:g.(87656102_87656849)_(87660116_87666239)del
NC_000008.10:g.(87656915_87660028)_(87666291_87679152)del
NM_001298.3(CNGA3):c.1201T>C (p.Ser401Pro)	rs916035276
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)	rs104893617
NM_019098.5(CNGB3):c.1098_1101dup (p.Ala368Ter)	rs1057518098
NM_019098.5(CNGB3):c.1155G>A (p.Trp385Ter)
NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter)	rs775038513
NM_019098.5(CNGB3):c.682dup (p.Ala228fs)	rs1554614038
NM_019098.5(CNGB3):c.991-3T>G	rs773372519

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