ClinVar Miner

List of variants in gene CNGB1 reported by GeneDx

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.1958-14A>C rs3991715 0.30656
NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala) rs12927214 0.05991
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_001297.5(CNGB1):c.3340G>A (p.Ala1114Thr) rs200242407 0.00213
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr) rs201407276 0.00131
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) rs201976061 0.00037
NM_001297.5(CNGB1):c.1828G>A (p.Ala610Thr) rs201302946 0.00024
NM_001297.5(CNGB1):c.1654C>T (p.Arg552Cys) rs370932519 0.00016
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile) rs189261750 0.00014
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter) rs1352458826 0.00002
NM_001297.5(CNGB1):c.151G>A (p.Glu51Lys) rs1489659962 0.00001
NM_001297.5(CNGB1):c.2438C>T (p.Ser813Leu) rs747258045 0.00001
NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter) rs1064794573 0.00001
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534 0.00001
NM_001297.5(CNGB1):c.1052A>C (p.Glu351Ala) rs2149381342
NM_001297.5(CNGB1):c.1089GGA[4] (p.Glu371del) rs141566950
NM_001297.5(CNGB1):c.1105G>C (p.Glu369Gln) rs2149381293
NM_001297.5(CNGB1):c.1120_1121+2del rs778884136
NM_001297.5(CNGB1):c.1710G>T (p.Glu570Asp) rs1085307820
NM_001297.5(CNGB1):c.1955C>G (p.Thr652Ser) rs1085307840
NM_001297.5(CNGB1):c.2333G>A (p.Arg778His) rs374491029
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs) rs1064794342
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001297.5(CNGB1):c.3010G>T (p.Ala1004Ser) rs1064794335
NM_001297.5(CNGB1):c.3150del (p.Phe1051fs) rs753353134
NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter) rs1420628245
NM_001297.5(CNGB1):c.3319A>G (p.Lys1107Glu)

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