List of variants in gene GUCY2D reported as likely pathogenic for Leber congenital amaurosis

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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: 14

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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.1672G>A (p.Asp558Asn)	rs188568530	0.00002
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)	rs61749676	0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	rs61749670
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs)	rs1598146589
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val)	rs781725943
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs)	rs1598149659
NM_000180.4(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034fs)	rs1555635925
NM_000180.4(GUCY2D):c.[1978C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[1991A>C];[2649del]
NM_000180.4(GUCY2D):c.[1991A>C];[2984G>A]
NM_000180.4(GUCY2D):c.[2649del];[3038G>A]
NM_000180.4(GUCY2D):c.[2818C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[2984G>A];[3044-1G>C]

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