ClinVar Miner

List of variants in gene CNGA3 reported as likely pathogenic

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Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158 0.00113
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
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.869G>A (p.Arg290His) rs199837807 0.00018
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
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.848G>A (p.Arg283Gln) rs104893614 0.00010
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_001298.3(CNGA3):c.1117G>A (p.Val373Met) rs552553452 0.00005
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.1688G>A (p.Arg563His) rs552069173 0.00004
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001298.3(CNGA3):c.1705C>T (p.Arg569Cys) rs757167624 0.00003
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr) rs761554853 0.00003
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn) rs374258471 0.00003
NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys) rs1377555853 0.00002
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg) rs781227859 0.00002
NM_001298.3(CNGA3):c.1658T>A (p.Leu553Gln) rs745779023 0.00002
NM_001298.3(CNGA3):c.316G>A (p.Glu106Lys) rs375152706 0.00002
NM_001298.3(CNGA3):c.668G>A (p.Arg223Gln) rs762668060 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001298.3(CNGA3):c.1061A>G (p.Tyr354Cys) rs760524816 0.00001
NM_001298.3(CNGA3):c.1063A>G (p.Ser355Gly) rs748583869 0.00001
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) rs1464167194 0.00001
NM_001298.3(CNGA3):c.1405G>A (p.Ala469Thr) rs117522010 0.00001
NM_001298.3(CNGA3):c.1537G>A (p.Gly513Arg) rs764918448 0.00001
NM_001298.3(CNGA3):c.1717T>C (p.Tyr573His) rs1330420689 0.00001
NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter) rs757470958 0.00001
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) rs753625117 0.00001
NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr) rs752170364 0.00001
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.1004G>A (p.Trp335Ter) rs2104246464
NM_001298.3(CNGA3):c.1006G>T (p.Val336Phe)
NM_001298.3(CNGA3):c.1036G>T (p.Gly346Trp)
NM_001298.3(CNGA3):c.1073G>C (p.Trp358Ser)
NM_001298.3(CNGA3):c.1076C>T (p.Ser359Phe) rs2104246690
NM_001298.3(CNGA3):c.107_110del (p.His36fs) rs749036398
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile) rs1574390811
NM_001298.3(CNGA3):c.1097T>C (p.Ile366Thr) rs773410146
NM_001298.3(CNGA3):c.1100G>T (p.Gly367Val)
NM_001298.3(CNGA3):c.1114C>G (p.Pro372Ala) rs1464167194
NM_001298.3(CNGA3):c.1115C>T (p.Pro372Leu) rs2104246962
NM_001298.3(CNGA3):c.1132T>A (p.Tyr378Asn) rs2104247035
NM_001298.3(CNGA3):c.1139T>C (p.Phe380Ser) rs1692911763
NM_001298.3(CNGA3):c.1168_1169del (p.Leu390fs)
NM_001298.3(CNGA3):c.1229G>T (p.Arg410Leu)
NM_001298.3(CNGA3):c.1268A>C (p.Tyr423Ser) rs2104247562
NM_001298.3(CNGA3):c.1271T>C (p.Met424Thr) rs1692915919
NM_001298.3(CNGA3):c.1273C>T (p.Gln425Ter) rs571419754
NM_001298.3(CNGA3):c.1280G>A (p.Arg427His) rs771172885
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu) rs771172885
NM_001298.3(CNGA3):c.1286T>C (p.Val429Ala) rs1692916541
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)
NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001298.3(CNGA3):c.1357G>A (p.Glu453Lys) rs2104248036
NM_001298.3(CNGA3):c.1366del (p.Val456fs) rs2104248068
NM_001298.3(CNGA3):c.1379del (p.Leu460fs) rs2104248132
NM_001298.3(CNGA3):c.1395_1412del (p.Lys465_Ile470del) rs1692921014
NM_001298.3(CNGA3):c.1405G>C (p.Ala469Pro)
NM_001298.3(CNGA3):c.1451A>C (p.Gln484Pro)
NM_001298.3(CNGA3):c.1457G>A (p.Cys486Tyr) rs786205531
NM_001298.3(CNGA3):c.1466G>T (p.Gly489Val) rs2104248683
NM_001298.3(CNGA3):c.1519del (p.Asp507fs) rs745592705
NM_001298.3(CNGA3):c.1520A>G (p.Asp507Gly) rs778000601
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser) rs786205532
NM_001298.3(CNGA3):c.1579C>A (p.Leu527Met) rs375928335
NM_001298.3(CNGA3):c.1580T>C (p.Leu527Pro) rs779023431
NM_001298.3(CNGA3):c.1611G>A (p.Gln537=) rs1692928194
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.1642G>T (p.Gly548Trp) rs781227859
NM_001298.3(CNGA3):c.1645G>T (p.Glu549Ter) rs1282613813
NM_001298.3(CNGA3):c.1655T>C (p.Ile552Thr) rs2104249574
NM_001298.3(CNGA3):c.1682_1683insACGCG (p.Asn562fs) rs2104249738
NM_001298.3(CNGA3):c.1686C>A (p.Asn562Lys) rs1692930941
NM_001298.3(CNGA3):c.1708A>G (p.Ser570Gly) rs2104249895
NM_001298.3(CNGA3):c.1712T>A (p.Ile571Asn) rs750456621
NM_001298.3(CNGA3):c.1715G>A (p.Gly572Asp)
NM_001298.3(CNGA3):c.1719C>G (p.Tyr573Ter)
NM_001298.3(CNGA3):c.1736T>G (p.Leu579Arg) rs2104250058
NM_001298.3(CNGA3):c.1741_1742del (p.Lys581fs) rs1553450895
NM_001298.3(CNGA3):c.1771T>C (p.Tyr591His) rs2104250253
NM_001298.3(CNGA3):c.1775C>T (p.Pro592Leu) rs1374130283
NM_001298.3(CNGA3):c.1808G>C (p.Arg603Pro) rs372215423
NM_001298.3(CNGA3):c.1810C>T (p.Gln604Ter) rs753692812
NM_001298.3(CNGA3):c.1931T>C (p.Phe644Ser) rs878853359
NM_001298.3(CNGA3):c.1978C>T (p.Gln660Ter) rs1553450979
NM_001298.3(CNGA3):c.215G>A (p.Arg72Lys)
NM_001298.3(CNGA3):c.216-1G>A
NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter) rs1692508715
NM_001298.3(CNGA3):c.384_387del (p.Asp128fs) rs2104205990
NM_001298.3(CNGA3):c.387del (p.Arg131fs) rs2104206033
NM_001298.3(CNGA3):c.396-2_398dup rs2104213507
NM_001298.3(CNGA3):c.448_449+2del
NM_001298.3(CNGA3):c.487C>A (p.Pro163Thr)
NM_001298.3(CNGA3):c.488C>A (p.Pro163Gln)
NM_001298.3(CNGA3):c.541T>C (p.Tyr181His)
NM_001298.3(CNGA3):c.542A>G (p.Tyr181Cys) rs1692740329
NM_001298.3(CNGA3):c.544A>G (p.Asn182Asp) rs2104229884
NM_001298.3(CNGA3):c.545A>G (p.Asn182Ser) rs2104229897
NM_001298.3(CNGA3):c.548G>A (p.Trp183Ter) rs1064797258
NM_001298.3(CNGA3):c.566_566+1delinsAT rs2104230007
NM_001298.3(CNGA3):c.572G>C (p.Cys191Ser)
NM_001298.3(CNGA3):c.580G>T (p.Glu194Ter)
NM_001298.3(CNGA3):c.587A>T (p.Gln196Leu)
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro) rs1330263985
NM_001298.3(CNGA3):c.591del (p.Glu198fs) rs2104235623
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly) rs138958917
NM_001298.3(CNGA3):c.742C>T (p.Gln248Ter) rs2104245397
NM_001298.3(CNGA3):c.755A>G (p.Asp252Gly)
NM_001298.3(CNGA3):c.778G>C (p.Asp260His) rs374258471
NM_001298.3(CNGA3):c.778dup (p.Asp260fs) rs756172609
NM_001298.3(CNGA3):c.787T>G (p.Tyr263Asp) rs943314733
NM_001298.3(CNGA3):c.811C>A (p.Pro271Thr) rs149802213
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser) rs199474697
NM_001298.3(CNGA3):c.851del (p.Leu284fs) rs1377331975
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter) rs1692904914
NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly) rs1574390600
NM_001298.3(CNGA3):c.910G>C (p.Gly304Arg)
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_001298.3(CNGA3):c.946T>G (p.Trp316Gly) rs1692906608
NM_001298.3(CNGA3):c.955_963delinsACCAATGAAATGGAAAT (p.Cys319fs) rs2104246318
NM_001298.3(CNGA3):c.992G>A (p.Gly331Glu) rs1311451829

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