ClinVar Miner

List of variants in gene CNGB3 studied for achromatopsia 3

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 266
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
NM_019098.4(CNGB3):c.*1639C>A rs990192 0.58635
NM_019098.5(CNGB3):c.852+55C>T rs3735967 0.39180
NM_019098.5(CNGB3):c.1481-145A>C rs13258590 0.33289
NM_019098.4(CNGB3):c.*1638G>A rs28471019 0.09998
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972 0.08214
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=) rs3735970 0.08211
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val) rs13265557 0.05793
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=) rs34839859 0.05572
NM_019098.5(CNGB3):c.1179-38T>C rs3735969 0.05147
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln) rs16916632 0.05057
NM_019098.5(CNGB3):c.1781+10A>T rs7000747 0.05032
NM_019098.5(CNGB3):c.211+13T>G rs66881636 0.04794
NM_019098.5(CNGB3):c.*778T>C rs16915859 0.01933
NM_019098.5(CNGB3):c.*389A>C rs16915861 0.01929
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys) rs114305748 0.01886
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_019098.5(CNGB3):c.354G>T (p.Pro118=) rs75858066 0.01037
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr) rs35010099 0.00978
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) rs35903042 0.00786
NM_019098.5(CNGB3):c.*621G>A rs116835980 0.00669
NM_019098.5(CNGB3):c.212-3T>C rs79126074 0.00635
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_019098.5(CNGB3):c.*29G>T rs138432513 0.00309
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289 0.00300
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.*1459C>T rs192543896 0.00178
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg) rs112573107 0.00124
NM_019098.4(CNGB3):c.-32T>C rs376141938 0.00123
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg) rs150260103 0.00122
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_019098.5(CNGB3):c.*1183T>C rs78927155 0.00096
NM_019098.5(CNGB3):c.*125G>C rs186370374 0.00087
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr) rs144637286 0.00070
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_019098.5(CNGB3):c.494-11T>C rs543970676 0.00062
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg) rs146688972 0.00057
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=) rs141934736 0.00054
NM_019098.5(CNGB3):c.*51C>T rs189210452 0.00051
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=) rs143131185 0.00036
NM_019098.5(CNGB3):c.*737T>C rs146999298 0.00034
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe) rs78239264 0.00031
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_019098.5(CNGB3):c.*1371G>T rs372688369 0.00025
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_019098.5(CNGB3):c.*798A>C rs886063157 0.00019
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly) rs139337746 0.00017
NM_019098.5(CNGB3):c.*499G>C rs540507221 0.00016
NM_019098.5(CNGB3):c.*84C>T rs372938106 0.00015
NM_019098.5(CNGB3):c.*649A>G rs778028865 0.00014
NM_019098.5(CNGB3):c.*997A>G rs141428300 0.00014
NM_019098.5(CNGB3):c.886_890del (p.Thr296fs) rs759748892 0.00014
NM_019098.5(CNGB3):c.*1470G>C rs568808064 0.00013
NM_019098.5(CNGB3):c.*293T>C rs141717983 0.00013
NM_019098.5(CNGB3):c.1833C>T (p.His611=) rs368787128 0.00013
NM_019098.5(CNGB3):c.624C>T (p.Asn208=) rs144347980 0.00013
NM_019098.5(CNGB3):c.*108C>T rs1031324821 0.00011
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln) rs377730576 0.00011
NM_019098.5(CNGB3):c.721G>A (p.Val241Ile) rs138320784 0.00011
NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro) rs144474033 0.00009
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853 0.00009
NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu) rs190864281 0.00008
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys) rs749413012 0.00007
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr) rs150642676 0.00006
NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe) rs373286939 0.00006
NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn) rs202240228 0.00006
NM_019098.5(CNGB3):c.720C>T (p.Leu240=) rs770816095 0.00006
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_019098.5(CNGB3):c.*206G>A rs886063159 0.00004
NM_019098.5(CNGB3):c.*570T>C rs965656666 0.00004
NM_019098.5(CNGB3):c.*731C>T rs886063158 0.00004
NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr) rs144605411 0.00004
NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser) rs3735971 0.00004
NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg) rs753083465 0.00004
NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr) rs375288585 0.00004
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr) rs150490913 0.00004
NM_019098.5(CNGB3):c.*1476T>A rs914165933 0.00003
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His) rs770214046 0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_019098.5(CNGB3):c.*183A>C rs1199541859 0.00002
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_019098.4(CNGB3):c.*1701C>T rs886063154 0.00001
NM_019098.5(CNGB3):c.*1218C>T rs1054383456 0.00001
NM_019098.5(CNGB3):c.*1368T>C rs886063155 0.00001
NM_019098.5(CNGB3):c.*1431G>A rs1337904740 0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys) rs886063160 0.00001
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs) rs1389959147 0.00001
NM_019098.5(CNGB3):c.1255G>T (p.Glu419Ter) rs372302139 0.00001
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp) rs373270306 0.00001
NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu) rs373679269 0.00001
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=) rs751667290 0.00001
NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn) rs1410218983 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.2350C>T (p.Leu784Phe) rs750535143 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr) rs1823848358 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro) rs752920111 0.00001
NM_019098.5(CNGB3):c.738C>T (p.Thr246=) rs781628736 0.00001
NM_019098.5(CNGB3):c.756C>G (p.Tyr252Ter) rs371318766 0.00001
NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr) rs886063162 0.00001
NM_019098.5(CNGB3):c.852+1G>C rs1201521544 0.00001
NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]
NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770]
NM_019098.4(CNGB3):c.(1578+1_1579-1)_(*1_?)del
NM_019098.4(CNGB3):c.(338+1_339-1)_(*1_?)del
NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del
NM_019098.4(CNGB3):c.*1654C>T rs796676165
NM_019098.4(CNGB3):c.*1705A>C rs982329960
NM_019098.4(CNGB3):c.*1733T>C rs970889903
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs) rs1554610279
NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs) rs1554609956
NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA (p.Gln131fs) rs1554614423
NM_019098.4(CNGB3):c.702_706delinsGTTTTT (p.Cys234fs) rs1554614024
NM_019098.4(CNGB3):c.706delinsTT (p.Ile236fs) rs1554614022
NM_019098.4(CNGB3):c.852+4013_903+1698dup
NM_019098.4(CNGB3):c.873delinsCAAAC (p.Arg291fs) rs1554612806
NM_019098.4(CNGB3):c.904-2824_1782-8208delins[KY923049.1:g.1_466]
NM_019098.5(CNGB3):c.*1093C>T rs886063156
NM_019098.5(CNGB3):c.*1143T>C rs1821625317
NM_019098.5(CNGB3):c.*1303G>A rs17683284
NM_019098.5(CNGB3):c.*272G>T rs1821641223
NM_019098.5(CNGB3):c.*291T>A rs1821640855
NM_019098.5(CNGB3):c.*379T>G rs188787381
NM_019098.5(CNGB3):c.*435G>A rs964834349
NM_019098.5(CNGB3):c.*735A>G rs73269601
NM_019098.5(CNGB3):c.*800C>G rs1028298142
NM_019098.5(CNGB3):c.*915G>C rs189446254
NM_019098.5(CNGB3):c.-1G>A rs1825379377
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter) rs1554611860
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.1056-2A>G rs1385347376
NM_019098.5(CNGB3):c.1056-3C>G rs1554611763
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.1155G>A (p.Trp385Ter)
NM_019098.5(CNGB3):c.1178+5G>T rs1823236444
NM_019098.5(CNGB3):c.1178+9T>C rs549858104
NM_019098.5(CNGB3):c.1179-2A>T rs1057517167
NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del) rs765574129
NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter) rs775038513
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter) rs376711003
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser) rs1178528306
NM_019098.5(CNGB3):c.1243C>T (p.Gln415Ter) rs1554610668
NM_019098.5(CNGB3):c.1260del (p.Ile420fs) rs1057516866
NM_019098.5(CNGB3):c.1285del (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.129+2T>C rs1554619498
NM_019098.5(CNGB3):c.1299_1300del (p.Phe434fs) rs1554610655
NM_019098.5(CNGB3):c.130-1G>T rs1554619303
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=) rs768959472
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.1426C>T (p.Gln476Ter) rs1554610284
NM_019098.5(CNGB3):c.1460G>A (p.Trp487Ter) rs999921351
NM_019098.5(CNGB3):c.1480+1G>A rs1057516825
NM_019098.5(CNGB3):c.1481-2A>C rs1554609978
NM_019098.5(CNGB3):c.1493del (p.Leu498fs) rs773381712
NM_019098.5(CNGB3):c.1496_1497del (p.Leu499fs)
NM_019098.5(CNGB3):c.1516del (p.Val506fs) rs768735888
NM_019098.5(CNGB3):c.1566_1569dup (p.Leu524fs) rs1554609946
NM_019098.5(CNGB3):c.1578+1G>T rs372006750
NM_019098.5(CNGB3):c.1578+2C>G rs1554609943
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.1579-2A>G rs772725807
NM_019098.5(CNGB3):c.1619T>A (p.Leu540Ter)
NM_019098.5(CNGB3):c.1635T>A (p.Tyr545Ter) rs1554608319
NM_019098.5(CNGB3):c.163dup (p.Thr55fs) rs1057516782
NM_019098.5(CNGB3):c.1663-2137C>T rs998703203
NM_019098.5(CNGB3):c.1663-2660_1781+5516del
NM_019098.5(CNGB3):c.1663-5T>G rs964530890
NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val) rs1262707163
NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val) rs771889150
NM_019098.5(CNGB3):c.1751T>C (p.Leu584Pro) rs1554607553
NM_019098.5(CNGB3):c.1773A>G (p.Gly591=) rs1822365271
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs) rs1554607548
NM_019098.5(CNGB3):c.1781+1G>A rs1375507464
NM_019098.5(CNGB3):c.1781+1G>C rs1375507464
NM_019098.5(CNGB3):c.1781+1G>T rs1375507464
NM_019098.5(CNGB3):c.1781+1del rs1554607546
NM_019098.5(CNGB3):c.1782-2A>C rs1554604851
NM_019098.5(CNGB3):c.1782-3723_2103+739del
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe) rs1554604849
NM_019098.5(CNGB3):c.1815del (p.Ala606fs) rs1362472371
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.190del (p.Glu64fs) rs1554619292
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.208C>T (p.Gln70Ter) rs1052078370
NM_019098.5(CNGB3):c.2101C>T (p.Gln701Ter) rs1554604769
NM_019098.5(CNGB3):c.2103+1G>A rs1554604767
NM_019098.5(CNGB3):c.212-2527_338+2854del
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
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.2313_2315del (p.Arg772del) rs758914061
NM_019098.5(CNGB3):c.2359del (p.Ser787fs) rs1554604525
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr) rs1821645749
NM_019098.5(CNGB3):c.257del (p.Pro86fs) rs1554618420
NM_019098.5(CNGB3):c.265C>T (p.Gln89Ter) rs1554618417
NM_019098.5(CNGB3):c.269del (p.Asn90fs)
NM_019098.5(CNGB3):c.281_284del (p.Pro94fs) rs1554618413
NM_019098.5(CNGB3):c.29dup (p.Val11fs) rs1442286151
NM_019098.5(CNGB3):c.301C>T (p.Gln101Ter) rs1554618404
NM_019098.5(CNGB3):c.31dup (p.Val11fs) rs1554619509
NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala) rs778184687
NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu) rs758681401
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.442_446delinsGAAAAT (p.Lys148fs) rs2131618938
NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs) rs1823849258
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.473C>T (p.Pro158Leu) rs1456633980
NM_019098.5(CNGB3):c.494-2A>T rs1554614157
NM_019098.5(CNGB3):c.556_559del (p.Arg186fs) rs1057517053
NM_019098.5(CNGB3):c.567del (p.Trp189fs) rs1057517052
NM_019098.5(CNGB3):c.589_590del (p.Leu197fs) rs1554614131
NM_019098.5(CNGB3):c.595del (p.Glu199fs) rs1823778696
NM_019098.5(CNGB3):c.59_61delinsCTGTCTCTTGTTCTCAT (p.Asn20fs)
NM_019098.5(CNGB3):c.643+2T>C rs1391492794
NM_019098.5(CNGB3):c.643G>C (p.Asp215His) rs1174949911
NM_019098.5(CNGB3):c.682dup (p.Ala228fs) rs1554614038
NM_019098.5(CNGB3):c.701G>A (p.Cys234Tyr) rs766852205
NM_019098.5(CNGB3):c.702T>A (p.Cys234Ter) rs6471482
NM_019098.5(CNGB3):c.791_794del (p.Tyr264fs) rs1554613998
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro) rs1189928623
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.852+1G>T rs1201521544
NM_019098.5(CNGB3):c.852+4010_903+1699dup
NM_019098.5(CNGB3):c.874A>T (p.Lys292Ter)
NM_019098.5(CNGB3):c.882C>G (p.Tyr294Ter) rs1554612805
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161
NM_019098.5(CNGB3):c.893_897del (p.Thr298fs)
NM_019098.5(CNGB3):c.904-2A>T rs1554612159
NM_019098.5(CNGB3):c.926C>T (p.Pro309Leu) rs1554612145
NM_019098.5(CNGB3):c.95dup (p.His32fs) rs1554619500
NM_019098.5(CNGB3):c.969del (p.Phe323fs)
NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg) rs1823317372
NM_019098.5(CNGB3):c.991-3T>G rs773372519
NM_019098.5(CNGB3):c.[442A>G;446_447insT]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.