ClinVar Miner

List of variants in gene GUCY2D studied for Leber congenital amaurosis

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Total variants: 23
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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.307G>A (p.Glu103Lys) rs61749668 0.00004
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_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu) rs765463082 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 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.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln) rs1598149187
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val) rs781725943
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs) rs1598149659
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000180.4(GUCY2D):c.2984G>A (p.Arg995Gln) rs777075412
NM_000180.4(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034fs) rs1555635925
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000180.4(GUCY2D):c.[1978C>T];[2960G>C]
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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