ClinVar Miner

List of variants in gene CNGB1 reported as likely pathogenic

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Gene type:
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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) rs201976061 0.00037
NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg) rs200963831 0.00011
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr) rs368328328 0.00009
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
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.2893-7G>A rs749199721 0.00003
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu) rs745636376 0.00002
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.1122-9G>A rs750225817 0.00001
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259 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.2438C>T (p.Ser813Leu) rs747258045 0.00001
NM_001297.5(CNGB1):c.2570_2571insT (p.Glu857fs) rs775887058 0.00001
NM_001297.5(CNGB1):c.2582del (p.Gln861fs) rs772330738 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.2977-2del rs750373166 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.1120_1121+2del rs778884136
NM_001297.5(CNGB1):c.1121+1G>A
NM_001297.5(CNGB1):c.1345del (p.Ala449fs) rs1596996962
NM_001297.5(CNGB1):c.1372+2T>C
NM_001297.5(CNGB1):c.1431C>A (p.Cys477Ter) rs1468272829
NM_001297.5(CNGB1):c.1532_1535+6del rs1961353527
NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu) rs374424738
NM_001297.5(CNGB1):c.1881C>A (p.Cys627Ter) rs369525244
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001297.5(CNGB1):c.1976_1980dup (p.Phe661fs)
NM_001297.5(CNGB1):c.2034G>A (p.Trp678Ter) rs1960899756
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter) rs1210263161
NM_001297.5(CNGB1):c.2217+1G>T rs2149364126
NM_001297.5(CNGB1):c.2217+2T>C rs1960862003
NM_001297.5(CNGB1):c.2225del (p.Leu742fs)
NM_001297.5(CNGB1):c.2256T>C (p.Tyr752=)
NM_001297.5(CNGB1):c.2271del (p.Asn758fs) rs1596974169
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.2524dup (p.Thr842fs) rs527236061
NM_001297.5(CNGB1):c.2542_2543insA (p.Gly848fs)
NM_001297.5(CNGB1):c.2544del (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.2567_2568del (p.Leu855_Phe856insTer)
NM_001297.5(CNGB1):c.257G>C (p.Arg86Pro)
NM_001297.5(CNGB1):c.2603dup (p.Val869fs) rs2149359033
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) rs878853394
NM_001297.5(CNGB1):c.2634+2T>C rs2149359022
NM_001297.5(CNGB1):c.2635-2A>T rs2149358592
NM_001297.5(CNGB1):c.2676C>A (p.Tyr892Ter) rs1555488573
NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs) rs1064794342
NM_001297.5(CNGB1):c.290+1G>A rs1167613754
NM_001297.5(CNGB1):c.2974_2976+992delinsCCCGAGGCACATGTGTGTTGACTGCATAGAGGCGGCAAAGCCTCCTAATCCGCCCCTGCTCTTGG rs2149356861
NM_001297.5(CNGB1):c.2980G>T (p.Glu994Ter) rs1555488069
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs) rs1365926616
NM_001297.5(CNGB1):c.3131_3149dup (p.Phe1051fs) rs1365926616
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs) rs756806434
NM_001297.5(CNGB1):c.3307del (p.Ala1103fs)
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.60del (p.Met21fs) rs1962422577
NM_001297.5(CNGB1):c.622C>T (p.Gln208Ter)
NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter) rs750620302
NM_001297.5(CNGB1):c.761+2T>A rs1555493707
NM_001297.5(CNGB1):c.874+2168_970del
NM_001297.5(CNGB1):c.973C>T (p.Gln325Ter) rs1961919100
NM_001297.5:c.1536-3071_2634+31dup

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