ClinVar Miner

List of variants reported as pathogenic for CNGA3-related retinopathy

Included ClinVar conditions (1):
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Total variants: 53
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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.101+1G>A rs147118493 0.00014
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
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.1228C>T (p.Arg410Trp) rs137852608 0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 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.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.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.830G>A (p.Arg277His) rs778114016 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
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.1717T>C (p.Tyr573His) rs1330420689 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.488C>T (p.Pro163Leu) rs104893612 0.00001
NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter) rs762773298 0.00001
NC_000002.12:g.98393909_98399093del
NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer) rs958089715
NM_001298.3(CNGA3):c.1201T>C (p.Ser401Pro) rs916035276
NM_001298.3(CNGA3):c.1231del (p.Ala411fs)
NM_001298.3(CNGA3):c.1235_1236del (p.Glu412fs) rs1692914478
NM_001298.3(CNGA3):c.1310_1312delinsAG (p.Val437fs) rs1558820471
NM_001298.3(CNGA3):c.1320del (p.Trp440fs) rs1553450762
NM_001298.3(CNGA3):c.1443dup (p.Ile482fs)
NM_001298.3(CNGA3):c.1519del (p.Asp507fs) rs745592705
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser) rs786205532
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.271C>T (p.Gln91Ter)
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.464del (p.Lys155fs) rs2104229154
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr) rs1574385431
NM_001298.3(CNGA3):c.674-1G>A rs949254623
NM_001298.3(CNGA3):c.77del (p.Asn26fs) rs2104175554
NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg) rs104893616
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter) rs1692904914

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