ClinVar Miner

List of variants in gene GUCY2D reported as likely pathogenic by Institute of Medical Molecular Genetics, University of Zurich

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn) rs1975693830

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