ClinVar Miner

List of variants in gene GUCY2D reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 17
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HGVS dbSNP gnomAD frequency
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.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682 0.00057
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_000180.4(GUCY2D):c.337G>A (p.Ala113Thr) rs1445892049 0.00032
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_000180.4(GUCY2D):c.1721G>A (p.Arg574His) rs560270873 0.00003
NM_000180.4(GUCY2D):c.2551C>T (p.Arg851Trp) rs571236000 0.00003
NM_000180.4(GUCY2D):c.566C>T (p.Ala189Val) rs375259185 0.00003
NM_000180.4(GUCY2D):c.1566+3G>T rs752607737 0.00002
NM_000180.4(GUCY2D):c.2456C>T (p.Ser819Leu) rs777766926 0.00001
NM_000180.4(GUCY2D):c.812G>C (p.Gly271Ala) rs1343799941 0.00001
NM_000180.4(GUCY2D):c.1384G>C (p.Glu462Gln)
NM_000180.4(GUCY2D):c.2594T>C (p.Leu865Ser) rs1555635796
NM_000180.4(GUCY2D):c.2936T>C (p.Leu979Pro) rs1555635874

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