ClinVar Miner

List of variants reported as likely pathogenic for CNGA3-related retinopathy

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
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.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.485A>T (p.Asp162Val) rs747447519 0.00010
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.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.1705C>T (p.Arg569Cys) rs757167624 0.00003
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr) rs761554853 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.1126G>A (p.Glu376Lys) rs1377555853 0.00002
NM_001298.3(CNGA3):c.1658T>A (p.Leu553Gln) rs745779023 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.1315C>T (p.Arg439Trp) rs749842881 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.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.1076C>T (p.Ser359Phe) rs2104246690
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile) rs1574390811
NM_001298.3(CNGA3):c.1100G>T (p.Gly367Val)
NM_001298.3(CNGA3):c.1115C>T (p.Pro372Leu) rs2104246962
NM_001298.3(CNGA3):c.1168_1169del (p.Leu390fs)
NM_001298.3(CNGA3):c.1190G>T (p.Gly397Val)
NM_001298.3(CNGA3):c.1229G>T (p.Arg410Leu)
NM_001298.3(CNGA3):c.1268A>C (p.Tyr423Ser) rs2104247562
NM_001298.3(CNGA3):c.1273C>T (p.Gln425Ter) rs571419754
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.130_151dup (p.Ala51fs) rs1558811557
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.1451A>C (p.Gln484Pro)
NM_001298.3(CNGA3):c.1466G>T (p.Gly489Val) rs2104248683
NM_001298.3(CNGA3):c.1519del (p.Asp507fs) rs745592705
NM_001298.3(CNGA3):c.1579C>A (p.Leu527Met) rs375928335
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1609del (p.Gln537fs) rs1293852552
NM_001298.3(CNGA3):c.1645G>T (p.Glu549Ter) rs1282613813
NM_001298.3(CNGA3):c.1682_1683insACGCG (p.Asn562fs) rs2104249738
NM_001298.3(CNGA3):c.1708A>G (p.Ser570Gly) rs2104249895
NM_001298.3(CNGA3):c.1736T>G (p.Leu579Arg) rs2104250058
NM_001298.3(CNGA3):c.1771T>C (p.Tyr591His) rs2104250253
NM_001298.3(CNGA3):c.1773C>A (p.Tyr591Ter)
NM_001298.3(CNGA3):c.1775C>T (p.Pro592Leu) rs1374130283
NM_001298.3(CNGA3):c.200dup (p.Gln68fs)
NM_001298.3(CNGA3):c.2013del (p.Gly672fs)
NM_001298.3(CNGA3):c.216-1G>A
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.479T>G (p.Val160Gly) rs201713771
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.580G>T (p.Glu194Ter)
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro) rs1330263985
NM_001298.3(CNGA3):c.591del (p.Glu198fs) rs2104235623
NM_001298.3(CNGA3):c.626C>A (p.Ser209Ter)
NM_001298.3(CNGA3):c.742C>T (p.Gln248Ter) rs2104245397
NM_001298.3(CNGA3):c.778G>C (p.Asp260His) rs374258471
NM_001298.3(CNGA3):c.778dup (p.Asp260fs) rs756172609
NM_001298.3(CNGA3):c.811C>A (p.Pro271Thr) rs149802213
NM_001298.3(CNGA3):c.848G>T (p.Arg283Leu)
NM_001298.3(CNGA3):c.851del (p.Leu284fs) rs1377331975
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter) rs1692904914
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_001298.3(CNGA3):c.955_963delinsACCAATGAAATGGAAAT (p.Cys319fs) rs2104246318
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys) rs1558820134
NM_001298.3(CNGA3):c.992G>A (p.Gly331Glu) rs1311451829

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