ClinVar Miner

List of variants in gene CNGB1 reported as likely pathogenic by Invitae

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg) rs200963831 0.00011
NM_001297.5(CNGB1):c.583+2T>C rs755036276 0.00006
NM_001297.5(CNGB1):c.534+1G>A rs200862689 0.00004
NM_001297.5(CNGB1):c.1210-2A>G rs373232101 0.00003
NM_001297.5(CNGB1):c.1643+1G>C rs1356992077 0.00003
NM_001297.5(CNGB1):c.1949C>T (p.Pro650Leu) rs780961773 0.00003
NM_001297.5(CNGB1):c.1122-9G>A rs750225817 0.00001
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys) rs771833874 0.00001
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His) rs761839551 0.00001
NM_001297.5(CNGB1):c.290+2T>C rs1429797650 0.00001
NM_001297.5(CNGB1):c.2977-1G>A rs865818297 0.00001
NM_001297.5(CNGB1):c.3095+1G>A rs758524873 0.00001
NC_000016.10:g.(?_57949353)_(57950540_?)dup
NC_000016.9:g.(?_57931281)_(57946918_?)dup
NC_000016.9:g.(?_57938618)_(57957304_?)dup
NM_001297.5(CNGB1):c.1121+1G>A
NM_001297.5(CNGB1):c.1372+2T>C
NM_001297.5(CNGB1):c.1532_1535+6del rs1961353527
NM_001297.5(CNGB1):c.2217+1G>T rs2149364126
NM_001297.5(CNGB1):c.2217+2T>C rs1960862003
NM_001297.5(CNGB1):c.2285G>T (p.Arg762Leu)
NM_001297.5(CNGB1):c.2305-2A>G rs1213265293
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) rs1286857064
NM_001297.5(CNGB1):c.2369+1G>A rs756239195
NM_001297.5(CNGB1):c.2370-87_2372del
NM_001297.5(CNGB1):c.2635-2A>T rs2149358592
NM_001297.5(CNGB1):c.290+1G>A rs1167613754
NM_001297.5(CNGB1):c.2974_2976+992delinsCCCGAGGCACATGTGTGTTGACTGCATAGAGGCGGCAAAGCCTCCTAATCCGCCCCTGCTCTTGG rs2149356861
NM_001297.5(CNGB1):c.412+1G>T
NM_001297.5(CNGB1):c.458+1G>A
NM_001297.5(CNGB1):c.459-2A>G
NM_001297.5(CNGB1):c.874+2168_970del

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