List of variants studied for cone-rod dystrophy 3 by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)	rs61750126	0.02895
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00178
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00036
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00031
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	rs61751408	0.00018
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)	rs61753033	0.00003
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs)	rs62642560
NM_000350.3(ABCA4):c.2888del (p.Gly963fs)	rs61752410
NM_000350.3(ABCA4):c.3540_3555del (p.Ser1181fs)	rs387906388
NM_000350.3(ABCA4):c.4539+1G>T	rs61751388
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp)	rs121909206

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