ClinVar Miner

List of variants in gene CNGA3 reported as pathogenic by Invitae

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Gene type:
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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 0.00019
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_001298.3(CNGA3):c.1981C>A (p.Arg661Ser) rs183838250 0.00012
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val) rs747447519 0.00010
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614 0.00010
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_001298.3(CNGA3):c.1982G>A (p.Arg661His) rs144715956 0.00006
NM_001298.3(CNGA3):c.1117G>A (p.Val373Met) rs552553452 0.00005
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) rs137852608 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00004
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) rs150153987 0.00004
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) rs552069173 0.00004
NM_001298.3(CNGA3):c.1030G>T (p.Glu344Ter) rs369281115 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001298.3(CNGA3):c.1706G>A (p.Arg569His) rs201782746 0.00003
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr) rs761554853 0.00003
NM_001298.3(CNGA3):c.661C>T (p.Arg221Ter) rs770713600 0.00003
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) rs777509481 0.00003
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn) rs374258471 0.00003
NM_001298.3(CNGA3):c.1495C>T (p.Arg499Ter) rs1386641968 0.00002
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg) rs781227859 0.00002
NM_001298.3(CNGA3):c.450-1G>A rs754158805 0.00002
NM_001298.3(CNGA3):c.62C>G (p.Ser21Ter) rs1402442627 0.00002
NM_001298.3(CNGA3):c.668G>A (p.Arg223Gln) rs762668060 0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001298.3(CNGA3):c.1021T>C (p.Ser341Pro) rs1227761587 0.00001
NM_001298.3(CNGA3):c.1063A>G (p.Ser355Gly) rs748583869 0.00001
NM_001298.3(CNGA3):c.1065T>G (p.Ser355Arg) rs1277409725 0.00001
NM_001298.3(CNGA3):c.1074G>A (p.Trp358Ter) rs772259302 0.00001
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) rs1464167194 0.00001
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_001298.3(CNGA3):c.1405G>A (p.Ala469Thr) rs117522010 0.00001
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys) rs763041373 0.00001
NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter) rs757470958 0.00001
NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter) rs762773298 0.00001
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) rs753625117 0.00001
NC_000002.11:g.(?_98949644)_(99013718_?)del
NM_001298.3(CNGA3):c.1001C>T (p.Ser334Phe) rs1692907593
NM_001298.3(CNGA3):c.1007del (p.Val336fs) rs753540191
NM_001298.3(CNGA3):c.1039C>T (p.Arg347Cys)
NM_001298.3(CNGA3):c.1070A>G (p.Tyr357Cys)
NM_001298.3(CNGA3):c.1071C>G (p.Tyr357Ter)
NM_001298.3(CNGA3):c.1073G>A (p.Trp358Ter)
NM_001298.3(CNGA3):c.107_110del (p.His36fs) rs749036398
NM_001298.3(CNGA3):c.109_125del (p.Ser37fs)
NM_001298.3(CNGA3):c.1110del (p.Pro372_Val373insTer)
NM_001298.3(CNGA3):c.1115C>T (p.Pro372Leu) rs2104246962
NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer) rs958089715
NM_001298.3(CNGA3):c.1116dup (p.Val373fs) rs958089715
NM_001298.3(CNGA3):c.1201T>C (p.Ser401Pro) rs916035276
NM_001298.3(CNGA3):c.1267dup (p.Tyr423fs) rs1388470784
NM_001298.3(CNGA3):c.1319G>A (p.Trp440Ter) rs1459484455
NM_001298.3(CNGA3):c.1319G>C (p.Trp440Ser) rs1459484455
NM_001298.3(CNGA3):c.1334G>A (p.Trp445Ter) rs1692918950
NM_001298.3(CNGA3):c.1351dup (p.Val451fs) rs1434100445
NM_001298.3(CNGA3):c.1395_1412del (p.Lys465_Ile470del) rs1692921014
NM_001298.3(CNGA3):c.1443dup (p.Ile482fs)
NM_001298.3(CNGA3):c.147dup (p.Ile50fs)
NM_001298.3(CNGA3):c.1519del (p.Asp507fs) rs745592705
NM_001298.3(CNGA3):c.1541A>T (p.Asp514Val) rs767904913
NM_001298.3(CNGA3):c.1580T>G (p.Leu527Arg)
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1609del (p.Gln537fs) rs1293852552
NM_001298.3(CNGA3):c.162_163insT (p.Arg55Ter)
NM_001298.3(CNGA3):c.1640T>G (p.Phe547Cys)
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.1641C>G (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.1679C>A (p.Ser560Ter)
NM_001298.3(CNGA3):c.1712T>C (p.Ile571Thr) rs750456621
NM_001298.3(CNGA3):c.1749del (p.Leu584fs) rs2104250161
NM_001298.3(CNGA3):c.1775C>T (p.Pro592Leu) rs1374130283
NM_001298.3(CNGA3):c.1814_1826del (p.Ile605fs) rs1692935801
NM_001298.3(CNGA3):c.1981C>T (p.Arg661Cys) rs183838250
NM_001298.3(CNGA3):c.24C>G (p.Tyr8Ter) rs1443129647
NM_001298.3(CNGA3):c.271C>T (p.Gln91Ter)
NM_001298.3(CNGA3):c.316G>T (p.Glu106Ter) rs375152706
NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter) rs1692508715
NM_001298.3(CNGA3):c.340G>T (p.Glu114Ter) rs1692509021
NM_001298.3(CNGA3):c.396-11C>G
NM_001298.3(CNGA3):c.406del (p.Leu136fs) rs1362318397
NM_001298.3(CNGA3):c.484del (p.Asp162fs) rs1050579652
NM_001298.3(CNGA3):c.499del (p.Leu167fs) rs1692739030
NM_001298.3(CNGA3):c.520del (p.Ala174fs) rs1692739694
NM_001298.3(CNGA3):c.542A>G (p.Tyr181Cys) rs1692740329
NM_001298.3(CNGA3):c.549G>A (p.Trp183Ter) rs1432305934
NM_001298.3(CNGA3):c.580G>A (p.Glu194Lys) rs2104235566
NM_001298.3(CNGA3):c.586C>T (p.Gln196Ter)
NM_001298.3(CNGA3):c.587A>G (p.Gln196Arg) rs1692797868
NM_001298.3(CNGA3):c.673+1G>A rs750806023
NM_001298.3(CNGA3):c.705_706dup (p.Thr236fs)
NM_001298.3(CNGA3):c.719G>A (p.Trp240Ter)
NM_001298.3(CNGA3):c.814G>T (p.Glu272Ter)
NM_001298.3(CNGA3):c.848G>C (p.Arg283Pro)
NM_001298.3(CNGA3):c.919dup (p.Val307fs)
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_001298.3(CNGA3):c.947G>A (p.Trp316Ter) rs2104246288
NM_001298.3(CNGA3):c.952G>A (p.Ala318Thr)
NM_001298.3(CNGA3):c.95del (p.Leu32fs) rs2104175689
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys) rs1558820134
NM_001298.3(CNGA3):c.992G>A (p.Gly331Glu) rs1311451829
NM_001298.3(CNGA3):c.9del (p.Ile4fs) rs1558808357

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