ClinVar Miner

List of variants in gene GUCY2D reported by PreventionGenetics, part of Exact Sciences

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=) rs56130505 0.11446
NM_000180.4(GUCY2D):c.741C>T (p.His247=) rs3829789 0.10665
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143 0.02884
NM_000180.4(GUCY2D):c.3043+20G>C rs78844078 0.01374
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe) rs557108466 0.00228
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) rs146149224 0.00106
NM_000180.4(GUCY2D):c.1026+6C>T rs147410617 0.00021
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315 0.00019
NM_000180.4(GUCY2D):c.2616G>A (p.Glu872=) rs369035095 0.00012
NM_000180.4(GUCY2D):c.2763C>A (p.Val921=) rs776152947 0.00009
NM_000180.4(GUCY2D):c.1323A>T (p.Ser441=) rs780550917 0.00005
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793 0.00005
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=) rs754581545 0.00001
NM_000180.4(GUCY2D):c.-9-128C>T
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1629C>T (p.Pro543=)
NM_000180.4(GUCY2D):c.2442G>T (p.Thr814=)
NM_000180.4(GUCY2D):c.3004A>C (p.Thr1002Pro)
NM_000180.4(GUCY2D):c.3057C>T (p.His1019=) rs780426461
NM_000180.4(GUCY2D):c.3139-3C>G rs771769796
NM_000180.4(GUCY2D):c.3169G>A (p.Val1057Met)
NM_000180.4(GUCY2D):c.360C>T (p.Arg120=)
NM_000180.4(GUCY2D):c.726G>A (p.Val242=) rs886038268
NM_000180.4(GUCY2D):c.786C>T (p.Ala262=)

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