ClinVar Miner

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

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Total variants: 7
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NM_000180.3(GUCY2D):c.1433_1442dup (p.Phe482Glyfs)
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034Valfs) rs1555635925
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val)
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs)

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