ClinVar Miner

List of variants in gene GUCY2D reported as uncertain significance by Blueprint Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.343T>C (p.Ser115Pro) rs562248093 0.00022
NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser) rs62641254 0.00003
NM_000180.4(GUCY2D):c.2457G>C (p.Ser819=) rs149866657 0.00002
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter) rs769818541 0.00002
NM_000180.4(GUCY2D):c.2462T>C (p.Leu821Pro) rs1325253963 0.00001
NM_000180.4(GUCY2D):c.2719G>A (p.Asp907Asn) rs1314298060 0.00001
NM_000180.4(GUCY2D):c.3025A>C (p.Met1009Leu) rs61750188 0.00001
NM_000180.4(GUCY2D):c.1877C>G (p.Ser626Cys) rs1336876328
NM_000180.4(GUCY2D):c.1964G>A (p.Arg655Lys) rs750399947
NM_000180.4(GUCY2D):c.2280G>A (p.Val760=) rs898895746
NM_000180.4(GUCY2D):c.2525T>C (p.Leu842Pro) rs1975927557
NM_000180.4(GUCY2D):c.2860C>G (p.Leu954Val) rs780072959
NM_000180.4(GUCY2D):c.964C>T (p.Leu322=) rs563208176

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