ClinVar Miner

List of variants in gene CNGB3 reported as benign for Achromatopsia

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_019098.4(CNGB3):c.*1881T>C rs990193 0.91428
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972 0.08214
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=) rs3735970 0.08211
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val) rs13265557 0.05793
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=) rs34839859 0.05572
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln) rs16916632 0.05057
NM_019098.5(CNGB3):c.1781+10A>T rs7000747 0.05032
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_019098.5(CNGB3):c.354G>T (p.Pro118=) rs75858066 0.01037
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr) rs35010099 0.00978
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) rs35903042 0.00786
NM_019098.5(CNGB3):c.212-3T>C rs79126074 0.00635
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289 0.00300
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_019098.5(CNGB3):c.1383C>T (p.Asp461=) rs112847374 0.00039
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_019098.5(CNGB3):c.339-10dup rs200792506
NM_019098.5(CNGB3):c.494-11dup rs36008065

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