ClinVar Miner

List of variants studied for CNGA3-related retinopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 32
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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.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 0.00019
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.1034A>G (p.His345Arg) rs780411290 0.00011
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.1585G>A (p.Val529Met) rs104893619 0.00004
NM_001298.3(CNGA3):c.1705C>T (p.Arg569Cys) rs757167624 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.1126G>A (p.Glu376Lys) rs1377555853 0.00002
NM_001298.3(CNGA3):c.1495C>T (p.Arg499Ter) rs1386641968 0.00002
NM_001298.3(CNGA3):c.1615G>A (p.Val539Met) rs374275399 0.00002
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg) rs781227859 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.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter) rs757470958 0.00001
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu) rs771172885
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1609del (p.Gln537fs) rs1293852552
NM_001298.3(CNGA3):c.1773C>A (p.Tyr591Ter)
NM_001298.3(CNGA3):c.396-11C>G
NM_001298.3(CNGA3):c.626C>A (p.Ser209Ter)
NM_001298.3(CNGA3):c.848G>T (p.Arg283Leu)
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533

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