List of variants reported as likely pathogenic for CNGA3-related retinopathy by Fulgent Genetics, Fulgent Genetics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
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.1982G>A (p.Arg661His)	rs144715956	0.00006
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)	rs104893619	0.00004
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.1315C>T (p.Arg439Trp)	rs749842881	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.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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