ClinVar Miner

List of variants in gene CNGB3 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
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_019098.5(CNGB3):c.852+55C>T rs3735967 0.39180
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.130-72G>T rs77644889 0.01776
NM_019098.5(CNGB3):c.211+100T>G rs111555715 0.01768
NM_019098.5(CNGB3):c.2103+67C>T rs78742257 0.01509
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_019098.4(CNGB3):c.-36T>G rs7812496
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.494-11dup rs36008065

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