ClinVar Miner

List of variants in gene CNGB1 studied for Retinal dystrophy

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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.327C>T (p.Gly109=) rs17821448 0.36508
NM_001297.5(CNGB1):c.2193C>T (p.Asn731=) rs376270 0.30588
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_001297.5(CNGB1):c.1644T>C (p.Asp548=) rs2161703 0.12201
NM_001297.5(CNGB1):c.2732A>G (p.Lys911Arg) rs2303785 0.08900
NM_001297.5(CNGB1):c.1950G>C (p.Pro650=) rs35424571 0.06391
NM_001297.5(CNGB1):c.2882C>T (p.Ala961Val) rs112002818 0.04307
NM_001297.5(CNGB1):c.1473G>A (p.Pro491=) rs9925973 0.03233
NM_001297.5(CNGB1):c.105G>A (p.Ala35=) rs61997250 0.01932
NM_001297.5(CNGB1):c.3378C>T (p.Gly1126=) rs11867123 0.01433
NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser) rs61745888 0.01420
NM_001297.5(CNGB1):c.606A>G (p.Glu202=) rs76788887 0.01379
NM_001297.5(CNGB1):c.2481C>T (p.Gly827=) rs77399988 0.00895
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) rs147593839 0.00806
NM_001297.5(CNGB1):c.3340G>A (p.Ala1114Thr) rs200242407 0.00213
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) rs140907154 0.00157
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr) rs201449358 0.00051
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_001297.5(CNGB1):c.1024A>G (p.Lys342Glu) rs201203400 0.00043
NM_001297.5(CNGB1):c.2681G>A (p.Arg894His) rs146762538 0.00043
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) rs145234666 0.00042
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) rs201976061 0.00037
NM_001297.5(CNGB1):c.3286G>A (p.Val1096Met) rs376128303 0.00019
NM_001297.5(CNGB1):c.139G>A (p.Glu47Lys) rs78149232 0.00018
NM_001297.5(CNGB1):c.1435C>A (p.Leu479Ile) rs2303783 0.00014
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.2794+1G>A rs770011113 0.00009
NM_001297.5(CNGB1):c.3398G>A (p.Arg1133Gln) rs375348116 0.00009
NM_001297.5(CNGB1):c.138C>T (p.Ala46=) rs753557311 0.00007
NM_001297.5(CNGB1):c.2656G>A (p.Ala886Thr) rs758922488 0.00006
NM_001297.5(CNGB1):c.3422C>T (p.Ala1141Val) rs562161300 0.00006
NM_001297.5(CNGB1):c.2206C>T (p.Arg736Cys) rs569502373 0.00004
NM_001297.5(CNGB1):c.2539G>A (p.Gly847Arg) rs200953727 0.00004
NM_001297.5(CNGB1):c.3229C>T (p.Arg1077Trp) rs201023939 0.00004
NM_001297.5(CNGB1):c.3488G>A (p.Gly1163Glu) rs186853874 0.00004
NM_001297.5(CNGB1):c.1771G>A (p.Val591Ile) rs746847813 0.00003
NM_001297.5(CNGB1):c.3483C>T (p.Val1161=) rs776024444 0.00003
NM_001297.5(CNGB1):c.2127C>G (p.Phe709Leu) rs370536830 0.00002
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter) rs1352458826 0.00002
NM_001297.5(CNGB1):c.2239C>A (p.Pro747Thr) rs974336687 0.00002
NM_001297.5(CNGB1):c.2733G>C (p.Lys911Asn) rs1012577997 0.00002
NM_001297.5(CNGB1):c.46C>G (p.Pro16Ala) rs767982458 0.00002
NM_001297.5(CNGB1):c.1443A>G (p.Ala481=) rs755279299 0.00001
NM_001297.5(CNGB1):c.1523C>T (p.Ser508Leu) rs539534716 0.00001
NM_001297.5(CNGB1):c.2154C>T (p.Gly718=) rs541698458 0.00001
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His) rs761839551 0.00001
NM_001297.5(CNGB1):c.2360A>G (p.Tyr787Cys) rs370288562 0.00001
NM_001297.5(CNGB1):c.2495A>G (p.Tyr832Cys) rs756885471 0.00001
NM_001297.5(CNGB1):c.2604C>T (p.Gly868=) rs377024297 0.00001
NM_001297.5(CNGB1):c.2979G>A (p.Gly993=) rs749626938 0.00001
NM_001297.5(CNGB1):c.3143C>T (p.Ala1048Val) rs755959274 0.00001
NM_001297.5(CNGB1):c.584C>T (p.Ala195Val) rs780237166 0.00001
NM_001297.5(CNGB1):c.713G>A (p.Gly238Asp) rs201703193 0.00001
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780 0.00001
NM_001297.5(CNGB1):c.106G>A (p.Glu36Lys)
NM_001297.5(CNGB1):c.1083G>A (p.Glu361=)
NM_001297.5(CNGB1):c.1373-1G>A rs1961362638
NM_001297.5(CNGB1):c.1431C>A (p.Cys477Ter) rs1468272829
NM_001297.5(CNGB1):c.1450A>G (p.Asn484Asp)
NM_001297.5(CNGB1):c.1845C>T (p.Pro615=)
NM_001297.5(CNGB1):c.190G>T (p.Val64Leu)
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001297.5(CNGB1):c.1976_1980dup (p.Phe661fs)
NM_001297.5(CNGB1):c.2014T>G (p.Trp672Gly)
NM_001297.5(CNGB1):c.2034G>A (p.Trp678Ter) rs1960899756
NM_001297.5(CNGB1):c.2066A>G (p.His689Arg)
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter) rs1210263161
NM_001297.5(CNGB1):c.2096A>G (p.Asp699Gly) rs878853393
NM_001297.5(CNGB1):c.2225del (p.Leu742fs)
NM_001297.5(CNGB1):c.2252T>G (p.Leu751Arg)
NM_001297.5(CNGB1):c.2256T>C (p.Tyr752=)
NM_001297.5(CNGB1):c.2302A>C (p.Lys768Gln) rs1960832607
NM_001297.5(CNGB1):c.2305-1G>A
NM_001297.5(CNGB1):c.2415T>C (p.Asn805=)
NM_001297.5(CNGB1):c.2455G>A (p.Gly819Ser)
NM_001297.5(CNGB1):c.2500C>T (p.Arg834Cys)
NM_001297.5(CNGB1):c.2527dup (p.Leu843fs) rs1451575280
NM_001297.5(CNGB1):c.2534C>T (p.Thr845Ile)
NM_001297.5(CNGB1):c.2542_2543insA (p.Gly848fs)
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.257G>C (p.Arg86Pro)
NM_001297.5(CNGB1):c.2628C>T (p.Ile876=)
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) rs878853394
NM_001297.5(CNGB1):c.2653G>T (p.Ala885Ser)
NM_001297.5(CNGB1):c.2670_2671dup (p.Thr891fs) rs1394513954
NM_001297.5(CNGB1):c.2728C>T (p.Pro910Ser)
NM_001297.5(CNGB1):c.2737G>A (p.Val913Met)
NM_001297.5(CNGB1):c.2764G>A (p.Glu922Lys) rs373209562
NM_001297.5(CNGB1):c.2789T>C (p.Met930Thr)
NM_001297.5(CNGB1):c.2829G>C (p.Lys943Asn)
NM_001297.5(CNGB1):c.2893G>A (p.Gly965Ser) rs559591083
NM_001297.5(CNGB1):c.2903G>A (p.Arg968Gln) rs1960384039
NM_001297.5(CNGB1):c.293C>G (p.Pro98Arg)
NM_001297.5(CNGB1):c.2969G>A (p.Cys990Tyr)
NM_001297.5(CNGB1):c.299G>A (p.Arg100His) rs13336595
NM_001297.5(CNGB1):c.3125G>A (p.Arg1042His)
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs) rs1365926616
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs) rs756806434
NM_001297.5(CNGB1):c.3149G>C (p.Gly1050Ala)
NM_001297.5(CNGB1):c.3150del (p.Phe1051fs) rs753353134
NM_001297.5(CNGB1):c.3175AAG[1] (p.Lys1060del)
NM_001297.5(CNGB1):c.3307del (p.Ala1103fs)
NM_001297.5(CNGB1):c.3401C>T (p.Ala1134Val)
NM_001297.5(CNGB1):c.3420C>T (p.Ala1140=) rs371860152
NM_001297.5(CNGB1):c.358A>G (p.Ser120Gly)
NM_001297.5(CNGB1):c.3678C>A (p.Cys1226Ter)
NM_001297.5(CNGB1):c.3692C>A (p.Pro1231Gln)
NM_001297.5(CNGB1):c.3710T>C (p.Ile1237Thr)
NM_001297.5(CNGB1):c.3717G>A (p.Ser1239=)
NM_001297.5(CNGB1):c.413-1G>C
NM_001297.5(CNGB1):c.622C>T (p.Gln208Ter)
NM_001297.5(CNGB1):c.628C>T (p.Arg210Trp)
NM_001297.5(CNGB1):c.641C>G (p.Ser214Cys)
NM_001297.5(CNGB1):c.775G>T (p.Val259Phe)
NM_001297.5(CNGB1):c.997T>C (p.Tyr333His)

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