ClinVar Miner

List of variants in gene CNGB3 reported as likely pathogenic

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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_019098.5(CNGB3):c.886_890del (p.Thr296fs) rs759748892 0.00014
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853 0.00009
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.1578+1G>A rs372006750 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.1306A>C (p.Ser436Arg) rs748354081 0.00001
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp) rs373270306 0.00001
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087 0.00001
NM_019098.5(CNGB3):c.1929-1G>A rs750257554 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.782A>G (p.Asp261Gly) rs1233466909 0.00001
NM_019098.5(CNGB3):c.903+1G>A rs1440619177 0.00001
NM_019098.5(CNGB3):c.990+1G>T rs763151392 0.00001
NC_000008.10:g.(?_87644970)_(87660125_?)del
NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del
NM_019098.4(CNGB3):c.(990+1_991-1)_(1178+1_1179-1)del
NM_019098.5(CNGB3):c.1019_1020del (p.His340fs)
NM_019098.5(CNGB3):c.1025_1026del (p.Glu342fs)
NM_019098.5(CNGB3):c.1052del (p.Tyr351fs)
NM_019098.5(CNGB3):c.1055+1G>C rs1823261605
NM_019098.5(CNGB3):c.1055+2T>A
NM_019098.5(CNGB3):c.1098_1101dup (p.Ala368Ter) rs1057518098
NM_019098.5(CNGB3):c.1107T>A (p.Cys369Ter)
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.1131T>G (p.Tyr377Ter)
NM_019098.5(CNGB3):c.1179-2A>T rs1057517167
NM_019098.5(CNGB3):c.1197T>G (p.Tyr399Ter) rs1822989898
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter) rs376711003
NM_019098.5(CNGB3):c.1260del (p.Ile420fs) rs1057516866
NM_019098.5(CNGB3):c.1285del (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.129+1G>A
NM_019098.5(CNGB3):c.130-1G>A rs1554619303
NM_019098.5(CNGB3):c.130-1G>T rs1554619303
NM_019098.5(CNGB3):c.1320+1G>A
NM_019098.5(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.5(CNGB3):c.1397T>A (p.Met466Lys) rs35010099
NM_019098.5(CNGB3):c.1405del (p.Tyr469fs)
NM_019098.5(CNGB3):c.1480+1G>A rs1057516825
NM_019098.5(CNGB3):c.1480+2T>C
NM_019098.5(CNGB3):c.1481-2A>C rs1554609978
NM_019098.5(CNGB3):c.1496_1497del (p.Leu499fs)
NM_019098.5(CNGB3):c.1578+2C>G rs1554609943
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.1619T>A (p.Leu540Ter)
NM_019098.5(CNGB3):c.163dup (p.Thr55fs) rs1057516782
NM_019098.5(CNGB3):c.1662+1G>A rs1064796793
NM_019098.5(CNGB3):c.1662+2T>C
NM_019098.5(CNGB3):c.1663-2137C>T rs998703203
NM_019098.5(CNGB3):c.1663-5T>G rs964530890
NM_019098.5(CNGB3):c.1700G>A (p.Gly567Glu) rs267602029
NM_019098.5(CNGB3):c.1751T>C (p.Leu584Pro) rs1554607553
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs) rs1554607548
NM_019098.5(CNGB3):c.1781+1del rs1554607546
NM_019098.5(CNGB3):c.1782-2A>C rs1554604851
NM_019098.5(CNGB3):c.1823T>A (p.Val608Glu) rs1554604833
NM_019098.5(CNGB3):c.1849_1850del (p.Leu617fs)
NM_019098.5(CNGB3):c.1883T>C (p.Leu628Pro)
NM_019098.5(CNGB3):c.1908del (p.Ile637fs) rs1057516571
NM_019098.5(CNGB3):c.1928+2T>C rs1057517454
NM_019098.5(CNGB3):c.1929-2A>G rs1057517388
NM_019098.5(CNGB3):c.1937del (p.Leu645_Leu646insTer) rs745557293
NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter) rs1554604775
NM_019098.5(CNGB3):c.2085del (p.Lys695fs) rs1585942791
NM_019098.5(CNGB3):c.2103+1G>A rs1554604767
NM_019098.5(CNGB3):c.2103+1G>T
NM_019098.5(CNGB3):c.2103+2T>C
NM_019098.5(CNGB3):c.212-1G>C rs1825065987
NM_019098.5(CNGB3):c.212-2A>G
NM_019098.5(CNGB3):c.2124del (p.Gly709fs)
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_019098.5(CNGB3):c.2181_2184del (p.Glu729fs) rs1302125467
NM_019098.5(CNGB3):c.220_221del (p.Ser74fs) rs1057517434
NM_019098.5(CNGB3):c.269del (p.Asn90fs)
NM_019098.5(CNGB3):c.2T>A (p.Met1Lys) rs1554619514
NM_019098.5(CNGB3):c.338+1G>A
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.5(CNGB3):c.3G>A (p.Met1Ile) rs1554619513
NM_019098.5(CNGB3):c.412del (p.Arg138fs) rs1057516791
NM_019098.5(CNGB3):c.445_447delinsT (p.Lys149fs) rs1554614402
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs) rs748993388
NM_019098.5(CNGB3):c.493+1G>A
NM_019098.5(CNGB3):c.493+1G>C rs2131618846
NM_019098.5(CNGB3):c.493+1G>T
NM_019098.5(CNGB3):c.556_559del (p.Arg186fs) rs1057517053
NM_019098.5(CNGB3):c.567del (p.Trp189fs) rs1057517052
NM_019098.5(CNGB3):c.59_61delinsCTGTCTCTTGTTCTCAT (p.Asn20fs)
NM_019098.5(CNGB3):c.639_643+42del
NM_019098.5(CNGB3):c.643+1G>A
NM_019098.5(CNGB3):c.643G>C (p.Asp215His) rs1174949911
NM_019098.5(CNGB3):c.644-2del
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro) rs1189928623
NM_019098.5(CNGB3):c.852+1G>T rs1201521544
NM_019098.5(CNGB3):c.853-1G>T rs1823456874
NM_019098.5(CNGB3):c.874A>T (p.Lys292Ter)
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161
NM_019098.5(CNGB3):c.893_897del (p.Thr298fs)
NM_019098.5(CNGB3):c.903+1G>C
NM_019098.5(CNGB3):c.904-2A>C rs1554612159
NM_019098.5(CNGB3):c.904-2A>T rs1554612159
NM_019098.5(CNGB3):c.969del (p.Phe323fs)
NM_019098.5(CNGB3):c.991-1G>A
NM_019098.5(CNGB3):c.991-1_992del rs755733512
NM_019098.5(CNGB3):c.991-1del
NM_019098.5(CNGB3):c.991-2A>G
NM_019098.5(CNGB3):c.991-3T>G rs773372519

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