ClinVar Miner

List of variants reported as pathogenic for color vision disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 0.00019
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.595del (p.Glu199fs) rs1823778696

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