ClinVar Miner

List of variants in gene GUCY2D reported as likely pathogenic for not provided

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000180.4(GUCY2D):c.1566+1G>A rs1348467293 0.00001
NM_000180.4(GUCY2D):c.1809del (p.Ala604fs) rs754431996 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg) rs1064797217
NM_000180.4(GUCY2D):c.2210AAG[1] (p.Glu738del)
NM_000180.4(GUCY2D):c.238_252del (p.Ala80_Leu84del) rs952193754
NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg) rs1975945188
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.4(GUCY2D):c.416T>C (p.Leu139Pro) rs786205499
NM_000180.4(GUCY2D):c.527T>C (p.Leu176Pro) rs786205500
NM_000180.4(GUCY2D):c.839C>G (p.Thr280Arg) rs868557040

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