List of variants reported as pathogenic for choroidal dystrophy, central areolar, 1

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Total variants: 8

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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.1561C>T (p.Arg521Ter)	rs748798324	0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	rs61749670
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)	rs1006935198
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala)	rs1567961904
NM_000322.5(PRPH2):c.273T>A (p.Tyr91Ter)	rs1761914145
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)	rs915505702
NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter)	rs1400806789

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