ClinVar Miner

List of variants in gene NLRP3 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg) rs150396172 0.00025
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro) rs151205016 0.00010
NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr) rs138061418 0.00009
NM_001243133.2(NLRP3):c.526C>T (p.Arg176Trp) rs201867990 0.00009
NM_001243133.2(NLRP3):c.2987G>C (p.Cys996Ser) rs199517145 0.00006
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala) rs200089542 0.00004
NM_001243133.2(NLRP3):c.1944C>A (p.Phe648Leu) rs1230268213
NM_001243133.2(NLRP3):c.1960A>G (p.Asn654Asp) rs2103113370
NM_001243133.2(NLRP3):c.1961A>G (p.Asn654Ser) rs1662799404
NM_001243133.2(NLRP3):c.2109G>T (p.Gln703His) rs1662812160
NM_001243133.2(NLRP3):c.2134G>T (p.Ala712Ser) rs200474460
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val) rs200288250
NM_001243133.2(NLRP3):c.2723C>T (p.Thr908Ile)
NM_001243133.2(NLRP3):c.2896A>G (p.Ser966Gly) rs765692633
NM_001243133.2(NLRP3):c.379A>C (p.Ile127Leu)
NM_001243133.2(NLRP3):c.379A>G (p.Ile127Val)
NM_001243133.2(NLRP3):c.414C>T (p.Tyr138=) rs1305478990
NM_001243133.2(NLRP3):c.578C>T (p.Thr193Met) rs76291085
NM_001243133.2(NLRP3):c.841C>G (p.Pro281Ala)
NM_001243133.2(NLRP3):c.901G>T (p.Gly301Cys) rs201504984
NM_001243133.2(NLRP3):c.992G>A (p.Ser331Asn) rs1662712097

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