ClinVar Miner

List of variants in gene CNGA3 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345 0.00158
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158 0.00113
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462 0.00083
NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg) rs190014426 0.00034
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_001298.3(CNGA3):c.1949A>C (p.Glu650Ala) rs139368657 0.00022
NM_001298.3(CNGA3):c.473C>T (p.Ala158Val) rs138934573 0.00022
NM_001298.3(CNGA3):c.508C>T (p.Arg170Cys) rs200542032 0.00022
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001298.3(CNGA3):c.869G>A (p.Arg290His) rs199837807 0.00018
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_001298.3(CNGA3):c.1976A>C (p.Lys659Thr) rs191584433 0.00010
NM_001298.3(CNGA3):c.908T>C (p.Ile303Thr) rs141718590 0.00009
NM_001298.3(CNGA3):c.324G>C (p.Lys108Asn) rs368478627 0.00008
NM_001298.3(CNGA3):c.603G>C (p.Met201Ile) rs374497578 0.00008
NM_001298.3(CNGA3):c.1349C>T (p.Thr450Met) rs536496690 0.00007
NM_001298.3(CNGA3):c.1837G>A (p.Asp613Asn) rs144627146 0.00006
NM_001298.3(CNGA3):c.215+6T>A rs972976103 0.00006
NM_001298.3(CNGA3):c.80G>A (p.Arg27His) rs769433253 0.00006
NM_001298.3(CNGA3):c.128C>T (p.Ser43Leu) rs367575427 0.00005
NM_001298.3(CNGA3):c.1747G>A (p.Asp583Asn) rs768458537 0.00005
NM_001298.3(CNGA3):c.595T>C (p.Tyr199His) rs200979604 0.00005
NM_001298.3(CNGA3):c.825C>G (p.Phe275Leu) rs148949600 0.00005
NM_001298.3(CNGA3):c.1427C>T (p.Thr476Met) rs376034278 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) rs150153987 0.00004
NM_001298.3(CNGA3):c.2051G>A (p.Gly684Glu) rs755545093 0.00004
NM_001298.3(CNGA3):c.245G>A (p.Arg82Lys) rs377322770 0.00004
NM_001298.3(CNGA3):c.662G>A (p.Arg221Gln) rs141395850 0.00004
NM_001298.3(CNGA3):c.1027C>T (p.Pro343Ser) rs560262335 0.00003
NM_001298.3(CNGA3):c.102A>G (p.Arg34=) rs909815558 0.00003
NM_001298.3(CNGA3):c.1147G>C (p.Val383Leu) rs377737921 0.00003
NM_001298.3(CNGA3):c.151G>A (p.Ala51Thr) rs770052346 0.00003
NM_001298.3(CNGA3):c.1679C>T (p.Ser560Leu) rs370911601 0.00003
NM_001298.3(CNGA3):c.1807C>T (p.Arg603Trp) rs769370731 0.00003
NM_001298.3(CNGA3):c.1856C>T (p.Ala619Val) rs770308610 0.00003
NM_001298.3(CNGA3):c.1937G>A (p.Arg646His) rs141577844 0.00003
NM_001298.3(CNGA3):c.1957G>A (p.Ala653Thr) rs982245764 0.00003
NM_001298.3(CNGA3):c.577G>A (p.Asp193Asn) rs375673700 0.00003
NM_001298.3(CNGA3):c.68G>A (p.Arg23Gln) rs746563618 0.00003
NM_001298.3(CNGA3):c.1040G>A (p.Arg347His) rs749591705 0.00002
NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys) rs1377555853 0.00002
NM_001298.3(CNGA3):c.1316G>A (p.Arg439Gln) rs760376435 0.00002
NM_001298.3(CNGA3):c.141G>T (p.Gln47His) rs146318973 0.00002
NM_001298.3(CNGA3):c.1615G>A (p.Val539Met) rs374275399 0.00002
NM_001298.3(CNGA3):c.1658T>A (p.Leu553Gln) rs745779023 0.00002
NM_001298.3(CNGA3):c.1663A>G (p.Ile555Val) rs779710464 0.00002
NM_001298.3(CNGA3):c.1795G>A (p.Glu599Lys) rs376992789 0.00002
NM_001298.3(CNGA3):c.1936C>T (p.Arg646Cys) rs753184087 0.00002
NM_001298.3(CNGA3):c.1939C>T (p.Leu647Phe) rs761112764 0.00002
NM_001298.3(CNGA3):c.199G>A (p.Gly67Ser) rs147789073 0.00002
NM_001298.3(CNGA3):c.2001C>G (p.Ser667Arg) rs374834480 0.00002
NM_001298.3(CNGA3):c.2041G>A (p.Glu681Lys) rs780484436 0.00002
NM_001298.3(CNGA3):c.223C>T (p.Arg75Cys) rs77733216 0.00002
NM_001298.3(CNGA3):c.302G>A (p.Arg101His) rs759775948 0.00002
NM_001298.3(CNGA3):c.532C>T (p.Pro178Ser) rs370799365 0.00002
NM_001298.3(CNGA3):c.57G>T (p.Lys19Asn) rs747940315 0.00002
NM_001298.3(CNGA3):c.868C>T (p.Arg290Cys) rs367597798 0.00002
NM_001298.3(CNGA3):c.919G>A (p.Val307Ile) rs761915575 0.00002
NM_001298.3(CNGA3):c.101+2dup rs781205523 0.00001
NM_001298.3(CNGA3):c.1061A>G (p.Tyr354Cys) rs760524816 0.00001
NM_001298.3(CNGA3):c.1204A>G (p.Met402Val) rs368567533 0.00001
NM_001298.3(CNGA3):c.1229G>A (p.Arg410Gln) rs373666055 0.00001
NM_001298.3(CNGA3):c.1250T>C (p.Ile417Thr) rs750132405 0.00001
NM_001298.3(CNGA3):c.1336G>A (p.Ala446Thr) rs369459783 0.00001
NM_001298.3(CNGA3):c.1352T>A (p.Val451Glu) rs1558820535 0.00001
NM_001298.3(CNGA3):c.137T>C (p.Leu46Pro) rs368755294 0.00001
NM_001298.3(CNGA3):c.145G>T (p.Gly49Trp) rs142681231 0.00001
NM_001298.3(CNGA3):c.1462G>T (p.Ala488Ser) rs1013072215 0.00001
NM_001298.3(CNGA3):c.1570G>A (p.Glu524Lys) rs112736405 0.00001
NM_001298.3(CNGA3):c.1783A>G (p.Lys595Glu) rs867965684 0.00001
NM_001298.3(CNGA3):c.1789G>A (p.Ala597Thr) rs567567852 0.00001
NM_001298.3(CNGA3):c.1831C>T (p.Leu611=) rs747855074 0.00001
NM_001298.3(CNGA3):c.187G>A (p.Gly63Ser) rs750409034 0.00001
NM_001298.3(CNGA3):c.2026C>T (p.Pro676Ser) rs751281453 0.00001
NM_001298.3(CNGA3):c.2059A>G (p.Thr687Ala) rs998041981 0.00001
NM_001298.3(CNGA3):c.205G>A (p.Gly69Arg) rs980089967 0.00001
NM_001298.3(CNGA3):c.215+3A>G rs775771846 0.00001
NM_001298.3(CNGA3):c.266A>G (p.His89Arg) rs775253368 0.00001
NM_001298.3(CNGA3):c.386G>C (p.Arg129Thr) rs1350432054 0.00001
NM_001298.3(CNGA3):c.478G>A (p.Val160Met) rs373542579 0.00001
NM_001298.3(CNGA3):c.540C>G (p.Phe180Leu) rs1168098739 0.00001
NM_001298.3(CNGA3):c.609G>T (p.Trp203Cys) rs757650055 0.00001
NM_001298.3(CNGA3):c.673+5G>T rs766732326 0.00001
NM_001298.3(CNGA3):c.673G>A (p.Gly225Ser) rs768061703 0.00001
NM_001298.3(CNGA3):c.674-1G>C rs949254623 0.00001
NM_001298.3(CNGA3):c.731A>G (p.Lys244Arg) rs1326906124 0.00001
NM_001298.3(CNGA3):c.77A>G (p.Asn26Ser) rs776185461 0.00001
NM_001298.3(CNGA3):c.785C>T (p.Ala262Val) rs1226035392 0.00001
NM_001298.3(CNGA3):c.808T>C (p.Tyr270His) rs768321000 0.00001
NM_001298.3(CNGA3):c.931C>T (p.Leu311Phe) rs1290229054 0.00001
NC_000002.11:g.(?_98986439)_(99013718_?)dup
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.102-3T>C rs1175437818
NM_001298.3(CNGA3):c.1048A>G (p.Arg350Gly) rs1692908768
NM_001298.3(CNGA3):c.1087C>T (p.Leu363Phe)
NM_001298.3(CNGA3):c.1091C>A (p.Thr364Asn)
NM_001298.3(CNGA3):c.1106C>A (p.Thr369Asn)
NM_001298.3(CNGA3):c.1106C>T (p.Thr369Ile) rs201372439
NM_001298.3(CNGA3):c.1112C>T (p.Pro371Leu)
NM_001298.3(CNGA3):c.111_113del (p.Ser39del) rs755957184
NM_001298.3(CNGA3):c.1128G>C (p.Glu376Asp) rs1426466250
NM_001298.3(CNGA3):c.1138T>C (p.Phe380Leu) rs2104247060
NM_001298.3(CNGA3):c.1142T>A (p.Val381Glu) rs2104247066
NM_001298.3(CNGA3):c.1183A>G (p.Ile395Val) rs374387223
NM_001298.3(CNGA3):c.1206G>T (p.Met402Ile) rs868852457
NM_001298.3(CNGA3):c.1217T>C (p.Met406Thr) rs1553450734
NM_001298.3(CNGA3):c.1223C>T (p.Ala408Val) rs1692913716
NM_001298.3(CNGA3):c.122A>G (p.Glu41Gly)
NM_001298.3(CNGA3):c.1236G>T (p.Glu412Asp)
NM_001298.3(CNGA3):c.124A>G (p.Thr42Ala) rs535187464
NM_001298.3(CNGA3):c.1282A>G (p.Lys428Glu) rs746160928
NM_001298.3(CNGA3):c.1296_1301del (p.Asp432_Leu433del)
NM_001298.3(CNGA3):c.1316G>T (p.Arg439Leu) rs760376435
NM_001298.3(CNGA3):c.1324_1325delinsTT (p.Asp442Phe) rs1692918521
NM_001298.3(CNGA3):c.1331T>C (p.Leu444Pro) rs2104247886
NM_001298.3(CNGA3):c.1402A>C (p.Ile468Leu)
NM_001298.3(CNGA3):c.1414G>C (p.Val472Leu)
NM_001298.3(CNGA3):c.1441C>A (p.Arg481Ser) rs751916521
NM_001298.3(CNGA3):c.1442G>T (p.Arg481Leu) rs201877346
NM_001298.3(CNGA3):c.1451A>C (p.Gln484Pro)
NM_001298.3(CNGA3):c.1462G>A (p.Ala488Thr) rs1013072215
NM_001298.3(CNGA3):c.1468C>A (p.Leu490Met) rs1692923847
NM_001298.3(CNGA3):c.1483G>C (p.Val495Leu) rs778681224
NM_001298.3(CNGA3):c.148A>G (p.Ile50Val) rs777234482
NM_001298.3(CNGA3):c.1496G>A (p.Arg499Gln)
NM_001298.3(CNGA3):c.1501A>C (p.Thr501Pro) rs1326071763
NM_001298.3(CNGA3):c.150C>G (p.Ile50Met) rs759715897
NM_001298.3(CNGA3):c.1520A>G (p.Asp507Gly) rs778000601
NM_001298.3(CNGA3):c.1520A>T (p.Asp507Val) rs778000601
NM_001298.3(CNGA3):c.1525A>G (p.Ile509Val) rs1692925549
NM_001298.3(CNGA3):c.1531AAG[1] (p.Lys512del)
NM_001298.3(CNGA3):c.1561A>G (p.Ile521Val)
NM_001298.3(CNGA3):c.1565T>C (p.Ile522Thr) rs2104249119
NM_001298.3(CNGA3):c.157G>C (p.Glu53Gln) rs2104198026
NM_001298.3(CNGA3):c.1595A>T (p.Asp532Val) rs1558820799
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1609del (p.Gln537fs) rs1293852552
NM_001298.3(CNGA3):c.1616T>C (p.Val539Ala)
NM_001298.3(CNGA3):c.1647G>T (p.Glu549Asp) rs1692929565
NM_001298.3(CNGA3):c.1673G>C (p.Ser558Thr) rs1309482690
NM_001298.3(CNGA3):c.1712T>C (p.Ile571Thr) rs750456621
NM_001298.3(CNGA3):c.1725C>A (p.Asp575Glu)
NM_001298.3(CNGA3):c.173C>T (p.Ala58Val)
NM_001298.3(CNGA3):c.1793T>C (p.Leu598Pro)
NM_001298.3(CNGA3):c.1805G>T (p.Gly602Val) rs1692935475
NM_001298.3(CNGA3):c.1819A>G (p.Met607Val) rs2104250466
NM_001298.3(CNGA3):c.181G>C (p.Gly61Arg)
NM_001298.3(CNGA3):c.1862C>A (p.Ala621Glu) rs200819699
NM_001298.3(CNGA3):c.1862C>T (p.Ala621Val) rs200819699
NM_001298.3(CNGA3):c.1871A>G (p.Lys624Arg)
NM_001298.3(CNGA3):c.1888G>A (p.Val630Met) rs766000572
NM_001298.3(CNGA3):c.1925C>A (p.Thr642Asn)
NM_001298.3(CNGA3):c.1929G>T (p.Arg643Ser) rs374387162
NM_001298.3(CNGA3):c.1956C>A (p.Asn652Lys) rs749868323
NM_001298.3(CNGA3):c.1974G>A (p.Met658Ile) rs1692940860
NM_001298.3(CNGA3):c.2006T>C (p.Val669Ala)
NM_001298.3(CNGA3):c.2010G>C (p.Lys670Asn)
NM_001298.3(CNGA3):c.2015G>T (p.Gly672Val) rs1484475832
NM_001298.3(CNGA3):c.2044G>T (p.Val682Phe) rs1692943291
NM_001298.3(CNGA3):c.2054A>G (p.Asp685Gly)
NM_001298.3(CNGA3):c.2074A>C (p.Lys692Gln) rs916233309
NM_001298.3(CNGA3):c.2080_2081del (p.Gln694fs) rs757901022
NM_001298.3(CNGA3):c.2081A>G (p.Gln694Arg) rs947764588
NM_001298.3(CNGA3):c.209T>C (p.Ile70Thr)
NM_001298.3(CNGA3):c.212C>T (p.Ala71Val)
NM_001298.3(CNGA3):c.215+6T>C rs972976103
NM_001298.3(CNGA3):c.221C>G (p.Ser74Trp)
NM_001298.3(CNGA3):c.241C>T (p.Arg81Cys)
NM_001298.3(CNGA3):c.242G>A (p.Arg81His) rs149230055
NM_001298.3(CNGA3):c.242G>T (p.Arg81Leu)
NM_001298.3(CNGA3):c.253G>A (p.Ala85Thr)
NM_001298.3(CNGA3):c.261T>G (p.His87Gln) rs774890755
NM_001298.3(CNGA3):c.281G>C (p.Gly94Ala)
NM_001298.3(CNGA3):c.283C>T (p.Pro95Ser)
NM_001298.3(CNGA3):c.295C>T (p.Pro99Ser) rs1411155736
NM_001298.3(CNGA3):c.301C>G (p.Arg101Gly) rs767017804
NM_001298.3(CNGA3):c.301C>T (p.Arg101Cys) rs767017804
NM_001298.3(CNGA3):c.308G>T (p.Arg103Leu)
NM_001298.3(CNGA3):c.314C>T (p.Ala105Val)
NM_001298.3(CNGA3):c.334A>T (p.Ser112Cys) rs2104205773
NM_001298.3(CNGA3):c.395+4A>G rs1574378242
NM_001298.3(CNGA3):c.396-4G>C
NM_001298.3(CNGA3):c.396-4dup rs1692579934
NM_001298.3(CNGA3):c.409G>A (p.Ala137Thr) rs868136222
NM_001298.3(CNGA3):c.450G>A (p.Glu150=)
NM_001298.3(CNGA3):c.455A>G (p.Lys152Arg)
NM_001298.3(CNGA3):c.473C>A (p.Ala158Glu) rs138934573
NM_001298.3(CNGA3):c.4G>C (p.Ala2Pro)
NM_001298.3(CNGA3):c.502T>C (p.Tyr168His) rs2104229528
NM_001298.3(CNGA3):c.509G>A (p.Arg170His)
NM_001298.3(CNGA3):c.509G>T (p.Arg170Leu) rs775155230
NM_001298.3(CNGA3):c.50A>G (p.Lys17Arg)
NM_001298.3(CNGA3):c.524T>C (p.Ile175Thr) rs2104229699
NM_001298.3(CNGA3):c.535G>T (p.Val179Phe) rs2104229812
NM_001298.3(CNGA3):c.566G>T (p.Arg189Met) rs2104229996
NM_001298.3(CNGA3):c.567-13_567-12delinsCA
NM_001298.3(CNGA3):c.575T>C (p.Phe192Ser) rs2104235511
NM_001298.3(CNGA3):c.617T>C (p.Leu206Pro) rs2104235792
NM_001298.3(CNGA3):c.632A>T (p.Asp211Val)
NM_001298.3(CNGA3):c.640T>C (p.Tyr214His)
NM_001298.3(CNGA3):c.659T>C (p.Val220Ala)
NM_001298.3(CNGA3):c.661C>G (p.Arg221Gly)
NM_001298.3(CNGA3):c.674-1G>A rs949254623
NM_001298.3(CNGA3):c.724C>G (p.His242Asp) rs761494287
NM_001298.3(CNGA3):c.746T>C (p.Phe249Ser)
NM_001298.3(CNGA3):c.74T>C (p.Leu25Pro)
NM_001298.3(CNGA3):c.767T>C (p.Leu256Pro) rs2104245496
NM_001298.3(CNGA3):c.775A>C (p.Thr259Pro)
NM_001298.3(CNGA3):c.781C>G (p.Leu261Val)
NM_001298.3(CNGA3):c.79C>G (p.Arg27Gly) rs149069990
NM_001298.3(CNGA3):c.79_90del (p.Arg27_Asn30del) rs1692251127
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser) rs199474697
NM_001298.3(CNGA3):c.82G>A (p.Ala28Thr)
NM_001298.3(CNGA3):c.82G>C (p.Ala28Pro) rs762107596
NM_001298.3(CNGA3):c.842T>C (p.Phe281Ser) rs2104245893
NM_001298.3(CNGA3):c.87A>C (p.Glu29Asp)
NM_001298.3(CNGA3):c.896A>G (p.Asn299Ser)
NM_001298.3(CNGA3):c.906G>T (p.Arg302Ser) rs749853484
NM_001298.3(CNGA3):c.90T>A (p.Asn30Lys) rs1213180679
NM_001298.3(CNGA3):c.929T>C (p.Ile310Thr)
NM_001298.3(CNGA3):c.932T>C (p.Leu311Pro) rs1692906033
NM_001298.3(CNGA3):c.959T>C (p.Ile320Thr)
NM_001298.3(CNGA3):c.961T>C (p.Tyr321His)
NM_001298.3(CNGA3):c.982A>C (p.Ile328Leu) rs765181562
NM_001298.3(CNGA3):c.99C>A (p.Ser33Arg) rs2104175711

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