ClinVar Miner

List of variants in gene GUCY2D reported by OMIM

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Total variants: 16
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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.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp) rs200637525 0.00005
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) rs1290420698 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.3(GUCY2D):c.[2511G>C;2512C>A]
NM_000180.3(GUCY2D):c.[2511G>C;2512C>T;2516C>T]
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.247C>T (p.Arg83Cys)
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2731C>T (p.Leu911Phe)
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala) rs1567961904
NM_000180.4(GUCY2D):c.2846T>C (p.Ile949Thr) rs267606857
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671

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