ClinVar Miner

List of variants in gene GUCY2D reported as pathogenic for Leber congenital amaurosis 1

Included ClinVar conditions (6):
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Gene type:
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Total variants: 17
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HGVS dbSNP
GUCY2D, 1-BP DEL, 2943G
NC_000017.10:g.(?_7906220)_(7919868_?)del
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.3(GUCY2D):c.1561C>T (p.Arg521Ter)
NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.3(GUCY2D):c.2114-27_2263+18del rs1555635550
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.2303G>A (p.Arg768Gln)
NM_000180.3(GUCY2D):c.2377delG (p.Glu793Asnfs) rs1555635668
NM_000180.3(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778
NM_000180.3(GUCY2D):c.2766C>G (p.Tyr922Ter)
NM_000180.3(GUCY2D):c.3224+1G>C
NM_000180.3(GUCY2D):c.3233_3236dupACCA (p.His1079Glnfs) rs386834239
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.3(GUCY2D):c.620delC (p.Arg208Glyfs) rs61749671
NM_000180.3(GUCY2D):c.914del (p.His305Profs)
NM_000180.3:c.1633C>T

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