List of variants studied for central areolar choroidal dystrophy by Fulgent Genetics, Fulgent Genetics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)	rs61749665	0.29501
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)	rs34598902	0.03505
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu)	rs28743021	0.01496
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=)	rs55916957	0.00340
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met)	rs186508466	0.00057
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser)	rs146820642	0.00053
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met)	rs143585840	0.00021
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	rs61750168	0.00019
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr)	rs143650826	0.00019
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe)	rs61749664	0.00010
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr)	rs751340355	0.00005
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)	rs188568530	0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)	rs756730335	0.00002
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn)	rs755464893	0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	rs61749670
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg)	rs1008930073
NM_000322.5(PRPH2):c.483C>T (p.Ile161=)	rs76989855

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