List of variants reported as pathogenic for central areolar choroidal dystrophy by Fulgent Genetics, Fulgent Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	rs61750168	0.00019
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)	rs61749668	0.00004
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)	rs1200134985	0.00003
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)	rs750889782	0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	rs61749670
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)	rs61749679
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter)	rs1338490917
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter)	rs1567961697
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	rs61755781

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