ClinVar Miner

List of variants reported as likely benign for color vision disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.*909_*910del rs3217489 0.08432
NM_001298.2(CNGA3):c.*1351T>G rs28376087 0.03691
NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala) rs12261131 0.02167
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys) rs114305748 0.01886
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_001377295.2(GNAT2):c.-53-76A>G rs116819755 0.00917
NM_006205.3(PDE6H):c.-29G>C rs114575851 0.00911
NM_006204.4(PDE6C):c.2208+14A>C rs61701022 0.00810
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) rs35903042 0.00786
NM_006204.4(PDE6C):c.*26A>G rs112520932 0.00703
NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile) rs62642544 0.00670
NM_019098.5(CNGB3):c.*621G>A rs116835980 0.00669
NM_019098.5(CNGB3):c.212-3T>C rs79126074 0.00635
NM_006204.4(PDE6C):c.724-15G>T rs141403797 0.00596
NM_006204.4(PDE6C):c.1936-9A>G rs182445749 0.00536
NM_001298.3(CNGA3):c.215+11A>G rs199755395 0.00490
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00451
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) rs41280330 0.00428
NM_001298.3(CNGA3):c.396-4G>A rs114951127 0.00360
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345 0.00158
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) rs146945932 0.00115
NM_019098.5(CNGB3):c.*125G>C rs186370374 0.00087
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg) rs146688972 0.00057
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_001377295.2(GNAT2):c.369C>T (p.Leu123=) rs12046787 0.00028
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_001298.3(CNGA3):c.1746C>T (p.Asp582=) rs77311157 0.00023
NM_001298.2(CNGA3):c.-406C>T rs529394802 0.00012
NM_006204.4(PDE6C):c.*209T>C rs530054025 0.00006
NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile) rs143489966 0.00002
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006204.4(PDE6C):c.2466G>C (p.Lys822Asn) rs79487435
NM_019098.5(CNGB3):c.494-11dup rs36008065

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