List of variants reported as pathogenic for cone dystrophy 3

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)	rs104893968	0.00130
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe)	rs869320709
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)	rs104893967
NM_001384910.1(GUCA1A):c.320T>C (p.Ile107Thr)	rs869320710
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu)	rs1582323732
NM_001384910.1(GUCA1A):c.359_360delinsTT (p.Arg120Leu)	rs1554186441
NM_001384910.1(GUCA1A):c.451C>T (p.Leu151Phe)	rs121434631
NM_001384910.1(GUCA1A):c.464A>G (p.Glu155Gly)	rs1768050305

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