ClinVar Miner

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

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614 0.00010
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.830G>A (p.Arg277His) rs778114016 0.00002
NM_019098.5(CNGB3):c.1320+4A>G rs1026427970 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.1280G>T (p.Arg427Leu) rs771172885
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.479T>G (p.Val160Gly) rs201713771
NM_001298.3(CNGA3):c.848G>T (p.Arg283Leu)
NM_001298.3(CNGA3):c.992G>A (p.Gly331Glu) rs1311451829
NM_019098.5(CNGB3):c.1155G>A (p.Trp385Ter)
NM_019098.5(CNGB3):c.991-3T>G rs773372519

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