ClinVar Miner

List of variants in gene CNGB3 reported as benign

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Gene type:
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Total variants: 73
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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.643+135A>T rs7815125 0.87560
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
NM_019098.4(CNGB3):c.*1639C>A rs990192 0.58635
NM_019098.5(CNGB3):c.852+55C>T rs3735967 0.39180
NM_019098.5(CNGB3):c.1481-145A>C rs13258590 0.33289
NM_019098.4(CNGB3):c.*1638G>A rs28471019 0.09998
NM_019098.5(CNGB3):c.1320+56G>A rs67463707 0.08394
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.1179-78A>T rs34307542 0.07993
NM_019098.5(CNGB3):c.493+96C>T rs7823947 0.07728
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.1179-38T>C rs3735969 0.05147
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.211+13T>G rs66881636 0.04794
NC_000008.11:g.86743727A>T rs62622781 0.03136
NM_019098.5(CNGB3):c.1662+67A>G rs28517318 0.02319
NM_019098.5(CNGB3):c.*778T>C rs16915859 0.01933
NM_019098.5(CNGB3):c.*389A>C rs16915861 0.01929
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys) rs114305748 0.01886
NM_019098.5(CNGB3):c.130-72G>T rs77644889 0.01776
NM_019098.5(CNGB3):c.211+100T>G rs111555715 0.01768
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_019098.5(CNGB3):c.2103+67C>T rs78742257 0.01509
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.1179-6T>C rs114127590 0.00352
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.1928+18C>T rs190053195 0.00200
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_019098.5(CNGB3):c.2007A>G (p.Lys669=) rs147991883 0.00089
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_019098.5(CNGB3):c.494-11T>C rs543970676 0.00062
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=) rs141934736 0.00054
NM_019098.5(CNGB3):c.1383C>T (p.Asp461=) rs112847374 0.00039
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=) rs143131185 0.00036
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_019098.5(CNGB3):c.*997A>G rs141428300 0.00014
NM_019098.5(CNGB3):c.715C>T (p.Arg239Cys) rs200019416 0.00013
NM_019098.5(CNGB3):c.1480+20G>A rs117375929 0.00003
GRCh37/hg19 8q21.3(chr8:87664244-87672457)x1
GRCh37/hg19 8q21.3(chr8:87671396-87672457)x1
GRCh37/hg19 8q21.3(chr8:87671396-87673633)x1
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.5(CNGB3):c.*1303G>A rs17683284
NM_019098.5(CNGB3):c.*735A>G rs73269601
NM_019098.5(CNGB3):c.*915G>C rs189446254
NM_019098.5(CNGB3):c.1178+9T>C rs549858104
NM_019098.5(CNGB3):c.130-8dup rs752460731
NM_019098.5(CNGB3):c.1321-97C>A rs1866907
NM_019098.5(CNGB3):c.2103+23C>G rs41466745
NM_019098.5(CNGB3):c.211+17dup rs78198409
NM_019098.5(CNGB3):c.211+32_211+34del rs78198409
NM_019098.5(CNGB3):c.211+33_211+34del rs78198409
NM_019098.5(CNGB3):c.211+34del rs78198409
NM_019098.5(CNGB3):c.212-6del rs745969238
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_019098.5(CNGB3):c.339-10del
NM_019098.5(CNGB3):c.339-10dup rs200792506
NM_019098.5(CNGB3):c.354G>A (p.Pro118=) rs75858066
NM_019098.5(CNGB3):c.494-11del rs36008065
NM_019098.5(CNGB3):c.494-11dup rs36008065
NM_019098.5(CNGB3):c.494-12_494-11dup rs36008065

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