ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_001243133.2(NLRP3):c.3005+25C>T rs61841189 0.00667
NM_001243133.2(NLRP3):c.278-45T>C rs41303141 0.00639
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=) rs148478875 0.00638
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071 0.00230
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=) rs138613962 0.00139
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=) rs143840033 0.00076
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073 0.00070
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) rs139814109 0.00051
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met) rs117287351 0.00031
NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=) rs141637807 0.00029
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) rs138946894 0.00029
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg) rs150396172 0.00025
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=) rs149493236 0.00021
NM_001243133.2(NLRP3):c.2358C>T (p.Phe786=) rs867062949 0.00021
NM_001243133.2(NLRP3):c.564C>T (p.Ile188=) rs147631017 0.00020
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.1323C>T (p.Tyr441=) rs200269703 0.00006
NM_001243133.2(NLRP3):c.2987G>C (p.Cys996Ser) rs199517145 0.00006
NM_001243133.2(NLRP3):c.-122T>C rs202234129 0.00005
NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=) rs147154764 0.00005
NM_001243133.2(NLRP3):c.2574C>T (p.Leu858=) rs201263581 0.00005
NM_001243133.2(NLRP3):c.309T>C (p.Thr103=) rs199822721 0.00005
NM_001243133.2(NLRP3):c.111C>T (p.Ile37=) rs145314485 0.00004
NM_001243133.2(NLRP3):c.220G>A (p.Ala74Thr) rs537715421 0.00004
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala) rs200089542 0.00004
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00002
NM_001243133.2(NLRP3):c.2732A>G (p.Asn911Ser) rs577683668 0.00002
NM_001243133.2(NLRP3):c.2856G>A (p.Thr952=) rs200474558 0.00002
NM_001243133.2(NLRP3):c.729G>A (p.Ser243=) rs147198684 0.00002
NM_001243133.2(NLRP3):c.1314C>T (p.Thr438=) rs201210274 0.00001
NM_001243133.2(NLRP3):c.2811C>T (p.Pro937=) rs545121784 0.00001
NM_001243133.2(NLRP3):c.900C>T (p.Asp300=) rs145826369 0.00001
NM_001243133.2(NLRP3):c.1003A>G (p.Arg335Gly)
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val) rs121908149
NM_001243133.2(NLRP3):c.1305G>A (p.Lys435=) rs1553286808
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.1488T>C (p.Asp496=) rs1372355086
NM_001243133.2(NLRP3):c.1690G>A (p.Gly564Ser) rs2103112183
NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys) rs104895389
NM_001243133.2(NLRP3):c.1851A>G (p.Lys617=) rs2103112860
NM_001243133.2(NLRP3):c.1944C>A (p.Phe648Leu) rs1230268213
NM_001243133.2(NLRP3):c.1946C>T (p.Pro649Leu) rs1662796733
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.2739G>A (p.Thr913=)
NM_001243133.2(NLRP3):c.2896A>G (p.Ser966Gly) rs765692633
NM_001243133.2(NLRP3):c.3090T>C (p.Phe1030=)
NM_001243133.2(NLRP3):c.329G>C (p.Ser110Thr)
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.463C>T (p.Arg155Cys)
NM_001243133.2(NLRP3):c.578C>T (p.Thr193Met) rs76291085
NM_001243133.2(NLRP3):c.778_780delinsTGG (p.Arg260Trp) rs2103107063
NM_001243133.2(NLRP3):c.790C>G (p.Leu264Val) rs180177476
NM_001243133.2(NLRP3):c.841C>G (p.Pro281Ala)
NM_001243133.2(NLRP3):c.843A>C (p.Pro281=)
NM_001243133.2(NLRP3):c.901G>T (p.Gly301Cys) rs201504984
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys) rs180177470
NM_001243133.2(NLRP3):c.951C>T (p.Cys317=)
NM_001243133.2(NLRP3):c.992G>A (p.Ser331Asn) rs1662712097

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