List of variants reported for Cone dystrophy by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)	rs137853921	0.00380
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	rs41292677	0.00308
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	rs113106943	0.00239
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)	rs146195955	0.00033
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)	rs61749668	0.00004
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)	rs531851447	0.00002
NM_152384.3(BBS5):c.412C>T (p.Arg138Cys)	rs1238632042	0.00002
NM_001298.3(CNGA3):c.1405G>A (p.Ala469Thr)	rs117522010	0.00001
NM_152384.3(BBS5):c.900G>C (p.Val300=)	rs757001492	0.00001
NM_000180.4(GUCY2D):c.238_252del (p.Ala80_Leu84del)	rs952193754
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	rs61753046
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)	rs140451304
Single allele

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