ClinVar Miner

List of variants in gene CNGB3 reported as likely pathogenic for color vision disorder

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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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.1119G>A (p.Trp373Ter) rs786204762 0.00001
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs) rs1389959147 0.00001
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp) rs373270306 0.00001
NM_019098.5(CNGB3):c.1883T>C (p.Leu628Pro) rs1821713775 0.00001
NM_019098.5(CNGB3):c.1929-1G>A rs750257554 0.00001
NM_019098.5(CNGB3):c.2011G>T (p.Glu671Ter) rs761969118 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_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter) rs1554611860
NM_019098.5(CNGB3):c.1019_1020del (p.His340fs) rs2538099930
NM_019098.5(CNGB3):c.1025_1026del (p.Glu342fs) rs2538099917
NM_019098.5(CNGB3):c.1052del (p.Tyr351fs) rs2538099860
NM_019098.5(CNGB3):c.1055+2T>G
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs) rs1586047969
NM_019098.5(CNGB3):c.1107T>A (p.Cys369Ter) rs2538098961
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.5(CNGB3):c.1131T>G (p.Tyr377Ter) rs1380940215
NM_019098.5(CNGB3):c.1179-2A>T rs1057517167
NM_019098.5(CNGB3):c.1199G>A (p.Trp400Ter)
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter) rs376711003
NM_019098.5(CNGB3):c.1260del (p.Ile420fs) rs1057516866
NM_019098.5(CNGB3):c.127C>T (p.Gln43Ter)
NM_019098.5(CNGB3):c.129+1G>A rs770096659
NM_019098.5(CNGB3):c.130-1G>A rs1554619303
NM_019098.5(CNGB3):c.1318C>T (p.Gln440Ter)
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) rs2538082676
NM_019098.5(CNGB3):c.1480+1G>A rs1057516825
NM_019098.5(CNGB3):c.1481-2A>C rs1554609978
NM_019098.5(CNGB3):c.1496_1497del (p.Leu499fs) rs2538079442
NM_019098.5(CNGB3):c.1516del (p.Val506fs) rs768735888
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) rs2538064552
NM_019098.5(CNGB3):c.163dup (p.Thr55fs) rs1057516782
NM_019098.5(CNGB3):c.1662+2T>C rs779134560
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.1823T>A (p.Val608Glu) rs1554604833
NM_019098.5(CNGB3):c.1849_1850del (p.Leu617fs) rs2538028854
NM_019098.5(CNGB3):c.1870del (p.Leu624fs)
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.199_200del (p.Thr67fs)
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 rs1554604767
NM_019098.5(CNGB3):c.2143G>T (p.Glu715Ter)
NM_019098.5(CNGB3):c.2164G>T (p.Glu722Ter)
NM_019098.5(CNGB3):c.2179_2182del (p.Gln727fs) rs1821654702
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.2221del (p.Asp741fs) rs1554604552
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019098.5(CNGB3):c.238G>T (p.Gly80Ter)
NM_019098.5(CNGB3):c.269del (p.Asn90fs) rs2538181864
NM_019098.5(CNGB3):c.372_375del (p.Ile124fs)
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
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.446_449del (p.Lys149fs)
NM_019098.5(CNGB3):c.494-1G>A
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) rs2538196058
NM_019098.5(CNGB3):c.643+1G>A rs1432404353
NM_019098.5(CNGB3):c.643G>C (p.Asp215His) rs1174949911
NM_019098.5(CNGB3):c.662G>A (p.Trp221Ter)
NM_019098.5(CNGB3):c.782A>G (p.Asp261Gly) rs1233466909
NM_019098.5(CNGB3):c.798T>G (p.Tyr266Ter)
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro) rs1189928623
NM_019098.5(CNGB3):c.839dup (p.Gly281fs) rs1281085210
NM_019098.5(CNGB3):c.852+1G>T rs1201521544
NM_019098.5(CNGB3):c.874A>T (p.Lys292Ter) rs2538108657
NM_019098.5(CNGB3):c.893_897del (p.Thr298fs) rs776581420
NM_019098.5(CNGB3):c.969del (p.Phe323fs) rs2538102257
NM_019098.5(CNGB3):c.991-3T>G rs773372519

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