List of variants in gene GUCY2D reported as likely pathogenic for central areolar choroidal dystrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)	rs756730335	0.00002
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)	rs61750171	0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	rs61750172	0.00001
NM_000180.4(GUCY2D):c.3224+1G>C	rs757823463	0.00001
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)	rs552184470
NM_000180.4(GUCY2D):c.1341dup (p.Ser448fs)
NM_000180.4(GUCY2D):c.1378+1G>T
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1956+1G>A
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter)	rs747951577
NM_000180.4(GUCY2D):c.2515_2522del (p.Thr839fs)
NM_000180.4(GUCY2D):c.3127del (p.Thr1043fs)
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup)	rs2151799690

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