ClinVar Miner

List of variants in gene CNGB3 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 51
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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.129+50C>T rs55678672 0.01746
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_019098.5(CNGB3):c.2103+67C>T rs78742257 0.01509
NC_000008.11:g.86743736A>G rs147446638 0.01276
NM_019098.5(CNGB3):c.1782-95A>C rs141759396 0.01265
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.1439G>A (p.Arg480Gln) rs77277189 0.00234
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter) rs151039691 0.00019
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853 0.00009
NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly) rs781481819 0.00006
NM_019098.5(CNGB3):c.129G>C (p.Gln43His) rs773587353 0.00003
NM_019098.5(CNGB3):c.298del (p.Glu100fs) rs1358283016 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.5(CNGB3):c.1098_1101dup (p.Ala368Ter) rs1057518098
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.5(CNGB3):c.1245_1246del (p.Gln415fs) rs1585981462
NM_019098.5(CNGB3):c.1321-97C>A rs1866907
NM_019098.5(CNGB3):c.1578+1G>T rs372006750
NM_019098.5(CNGB3):c.1662+1G>A rs1064796793
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
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161

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