ClinVar Miner

List of variants in gene CNGB3 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_019098.5(CNGB3):c.886_890del (p.Thr296fs) rs759748892 0.00014
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_019098.5(CNGB3):c.1320+4A>G rs1026427970 0.00002
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter) rs201320564 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019098.5(CNGB3):c.1663-1205G>A rs1000861056 0.00002
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) rs768345097 0.00002
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs) rs1389959147 0.00001
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter) rs770786127 0.00001
NM_019098.5(CNGB3):c.1255G>T (p.Glu419Ter) rs372302139 0.00001
NM_019098.5(CNGB3):c.1579-2del rs1243555074 0.00001
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087 0.00001
NM_019098.5(CNGB3):c.2011G>T (p.Glu671Ter) rs761969118 0.00001
NM_019098.5(CNGB3):c.298del (p.Glu100fs) rs1358283016 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_019098.5(CNGB3):c.756C>G (p.Tyr252Ter) rs371318766 0.00001
NM_019098.5(CNGB3):c.852+1G>C rs1201521544 0.00001
NC_000008.10:g.(?_87588022)_(87591490_?)del
NC_000008.10:g.(?_87588022)_(87755865_?)del
NC_000008.10:g.(?_87616301)_(87755855_?)del
NC_000008.10:g.(?_87616311)_(87641316_?)del
NC_000008.10:g.(?_87638201)_(87645131_?)del
NC_000008.10:g.(?_87666220)_(87683346_?)dup
NC_000008.10:g.(?_87666240)_(87683326_?)dup
NC_000008.10:g.(?_87679332)_(87687741_?)del
NC_000008.10:g.(?_87738739)_(87738905_?)del
NC_000008.10:g.(?_87738749)_(87755865_?)del
NC_000008.11:g.(?_86604083)_(86604221_?)del
NC_000008.11:g.(?_86654002)_(86654072_?)dup
NC_000008.11:g.(?_86739645)_(86743637_?)del
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter) rs1554611860
NM_019098.5(CNGB3):c.1050_1051del (p.Tyr351fs)
NM_019098.5(CNGB3):c.1056-1G>A
NM_019098.5(CNGB3):c.1056-1G>C rs2131594360
NM_019098.5(CNGB3):c.1056-2A>C rs1385347376
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs) rs1586047969
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.112C>T (p.Gln38Ter) rs786204498
NM_019098.5(CNGB3):c.1168G>T (p.Glu390Ter) rs1823236911
NM_019098.5(CNGB3):c.1197T>G (p.Tyr399Ter) rs1822989898
NM_019098.5(CNGB3):c.1198del (p.Trp400fs)
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter) rs376711003
NM_019098.5(CNGB3):c.1216_1219del (p.Ile406fs) rs1585981514
NM_019098.5(CNGB3):c.1216dup (p.Ile406fs)
NM_019098.5(CNGB3):c.1249_1250del (p.Leu417fs)
NM_019098.5(CNGB3):c.1250del (p.Leu417fs) rs759746961
NM_019098.5(CNGB3):c.1258_1277del (p.Ile420fs)
NM_019098.5(CNGB3):c.1260del (p.Ile420fs) rs1057516866
NM_019098.5(CNGB3):c.126del (p.Gln43fs)
NM_019098.5(CNGB3):c.1285del (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.129+1del
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_019098.5(CNGB3):c.1310T>G (p.Leu437Ter) rs2131585371
NM_019098.5(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.5(CNGB3):c.1370_1371del (p.Ala457fs) rs2131582838
NM_019098.5(CNGB3):c.139A>T (p.Lys47Ter)
NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter) rs1554610284
NM_019098.5(CNGB3):c.1440_1480+10del
NM_019098.5(CNGB3):c.1461G>A (p.Trp487Ter) rs1822903424
NM_019098.5(CNGB3):c.1482del (p.Asp494fs)
NM_019098.5(CNGB3):c.1493del (p.Leu498fs) rs773381712
NM_019098.5(CNGB3):c.1516del (p.Val506fs) rs768735888
NM_019098.5(CNGB3):c.1519C>T (p.Gln507Ter)
NM_019098.5(CNGB3):c.1574_1575del (p.Leu524_Phe525insTer)
NM_019098.5(CNGB3):c.1576A>T (p.Lys526Ter) rs2131580291
NM_019098.5(CNGB3):c.1578+1G>T rs372006750
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.1599_1600dup (p.Tyr534fs) rs2131565806
NM_019098.5(CNGB3):c.1637T>A (p.Leu546Ter) rs2131565717
NM_019098.5(CNGB3):c.1652_1655del (p.Val551fs)
NM_019098.5(CNGB3):c.1666G>T (p.Glu556Ter) rs2131559324
NM_019098.5(CNGB3):c.1669dup (p.Ile557fs)
NM_019098.5(CNGB3):c.1706_1707del (p.Val569fs) rs1822368895
NM_019098.5(CNGB3):c.1738del (p.Val580fs) rs2131559197
NM_019098.5(CNGB3):c.1763C>A (p.Ser588Ter)
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs) rs1554607548
NM_019098.5(CNGB3):c.1781+1G>C rs1375507464
NM_019098.5(CNGB3):c.1781+1del rs1554607546
NM_019098.5(CNGB3):c.1815del (p.Ala606fs) rs1362472371
NM_019098.5(CNGB3):c.1908del (p.Ile637fs) rs1057516571
NM_019098.5(CNGB3):c.192_195dup (p.His66fs) rs1825308382
NM_019098.5(CNGB3):c.1937del (p.Leu645_Leu646insTer) rs745557293
NM_019098.5(CNGB3):c.1943del (p.Gln648fs)
NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter) rs1554604775
NM_019098.5(CNGB3):c.2038del (p.Leu679_Leu680insTer)
NM_019098.5(CNGB3):c.208C>T (p.Gln70Ter) rs1052078370
NM_019098.5(CNGB3):c.2105del (p.Lys702fs) rs2131529670
NM_019098.5(CNGB3):c.2158del (p.Gln720fs)
NM_019098.5(CNGB3):c.2160_2163del (p.Glu722fs)
NM_019098.5(CNGB3):c.2168del (p.Asn723fs)
NM_019098.5(CNGB3):c.2179_2182del (p.Gln727fs) rs1821654702
NM_019098.5(CNGB3):c.2184del (p.Glu729fs) rs1302125467
NM_019098.5(CNGB3):c.220_221del (p.Ser74fs) rs1057517434
NM_019098.5(CNGB3):c.223A>T (p.Lys75Ter) rs1394829489
NM_019098.5(CNGB3):c.250_262del (p.Thr84fs) rs2131672039
NM_019098.5(CNGB3):c.257del (p.Pro86fs) rs1554618420
NM_019098.5(CNGB3):c.281_284del (p.Pro94fs) rs1554618413
NM_019098.5(CNGB3):c.29dup (p.Val11fs) rs1442286151
NM_019098.5(CNGB3):c.353del (p.Pro118fs)
NM_019098.5(CNGB3):c.357del (p.Ala120fs) rs2131619089
NM_019098.5(CNGB3):c.381T>G (p.Tyr127Ter) rs756986331
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.5(CNGB3):c.409A>T (p.Lys137Ter)
NM_019098.5(CNGB3):c.412del (p.Arg138fs) rs1057516791
NM_019098.5(CNGB3):c.41_42dup (p.Gly15Ter) rs2131687580
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs) rs748993388
NM_019098.5(CNGB3):c.470C>A (p.Ser157Ter) rs2131618872
NM_019098.5(CNGB3):c.552C>A (p.Tyr184Ter)
NM_019098.5(CNGB3):c.566G>A (p.Trp189Ter) rs1458192795
NM_019098.5(CNGB3):c.567G>A (p.Trp189Ter) rs1823779468
NM_019098.5(CNGB3):c.583del (p.Met195fs)
NM_019098.5(CNGB3):c.590T>G (p.Leu197Ter) rs2131616018
NM_019098.5(CNGB3):c.595del (p.Glu199fs) rs1823778696
NM_019098.5(CNGB3):c.668T>A (p.Leu223Ter) rs2131615148
NM_019098.5(CNGB3):c.682dup (p.Ala228fs) rs1554614038
NM_019098.5(CNGB3):c.692G>A (p.Trp231Ter)
NM_019098.5(CNGB3):c.701_702delinsAG (p.Cys234Ter) rs1823755123
NM_019098.5(CNGB3):c.777_778del (p.Ile259fs) rs1823752421
NM_019098.5(CNGB3):c.783_790dup (p.Tyr264fs)
NM_019098.5(CNGB3):c.787_788del (p.Ile263fs)
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.826C>T (p.Gln276Ter) rs2131614848
NM_019098.5(CNGB3):c.839dup (p.Gly281fs) rs1281085210
NM_019098.5(CNGB3):c.852+1G>T rs1201521544
NM_019098.5(CNGB3):c.886A>T (p.Thr296Ser)
NM_019098.5(CNGB3):c.917C>A (p.Ser306Ter) rs2131597459
NM_019098.5(CNGB3):c.991-3T>G rs773372519

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