List of variants reported as likely pathogenic for Cone dystrophy

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Total variants: 15

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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_000180.4(GUCY2D):c.238_252del (p.Ala80_Leu84del)	rs952193754
NM_001017979.3(RAB28):c.430C>T (p.His144Tyr)
NM_001298.3(CNGA3):c.1520A>G (p.Asp507Gly)	rs778000601
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)	rs140451304
NM_006204.4(PDE6C):c.490T>C (p.Phe164Leu)	rs1589693002
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys)	rs1271498710
Single allele

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