ClinVar Miner

List of variants in gene NLRP3 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.2493-40G>A rs10754557 0.50722
NM_001243133.2(NLRP3):c.3005+44C>A rs45624634 0.12875
NM_001243133.2(NLRP3):c.2150+59G>A rs3738447 0.12565
NM_001243133.2(NLRP3):c.2321+85A>G rs12060377 0.11467
NM_001243133.2(NLRP3):c.657C>T (p.Thr219=) rs7525979 0.10943
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=) rs34298354 0.08679
NM_001243133.2(NLRP3):c.780= (p.Arg260=) rs4925543 0.07230
NM_001243133.2(NLRP3):c.-40G>T rs73136263 0.03689
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.423C>T (p.Tyr141=) rs56710146 0.00680
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.1600C>T (p.Leu534=) rs116054301 0.00596
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.277+89T>A rs866873824 0.00170
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=) rs138613962 0.00139
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638 0.00089
NM_001243133.2(NLRP3):c.2151-7T>C rs116546330 0.00084
NM_001243133.2(NLRP3):c.2488C>A (p.Leu830Ile) rs114158404 0.00083
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.3048A>C (p.Leu1016Phe) rs143548979 0.00068
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_001243133.2(NLRP3):c.2457A>T (p.Gly819=) rs202034848 0.00059
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.1245C>T (p.Ile415=) rs139852370 0.00045
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=) rs144469697 0.00038
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.2668G>T (p.Val890Leu) rs193085132 0.00025
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg) rs150396172 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=) rs149493236 0.00021
NM_001243133.2(NLRP3):c.300G>A (p.Ser100=) rs149161277 0.00021
NM_001243133.2(NLRP3):c.525C>T (p.His175=) rs376196301 0.00021
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=) rs104895398 0.00020
NM_001243133.2(NLRP3):c.564C>T (p.Ile188=) rs147631017 0.00020
NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val) rs180177493 0.00019
NM_001243133.2(NLRP3):c.2611G>A (p.Ala871Thr) rs201867582 0.00016
NM_001243133.2(NLRP3):c.2018G>A (p.Arg673Gln) rs142651552 0.00015
NM_001243133.2(NLRP3):c.488A>G (p.Asn163Ser) rs199475733 0.00015
NM_001243133.2(NLRP3):c.2364C>A (p.Ile788=) rs766840708 0.00013
NM_001243133.2(NLRP3):c.249G>A (p.Glu83=) rs375070491 0.00013
NM_001243133.2(NLRP3):c.1079T>A (p.Leu360Gln) rs201593863 0.00012
NM_001243133.2(NLRP3):c.282A>T (p.Ser94=) rs374949230 0.00011
NM_001243133.2(NLRP3):c.906C>T (p.Phe302=) rs756989752 0.00011
NM_001243133.2(NLRP3):c.1200C>T (p.Asn400=) rs202094185 0.00010
NM_001243133.2(NLRP3):c.2493-8T>A rs199858933 0.00010
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro) rs151205016 0.00010
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr) rs138061418 0.00009
NM_001243133.2(NLRP3):c.2150+77C>G rs1298480596 0.00009
NM_001243133.2(NLRP3):c.2493-44C>T rs190033492 0.00009
NM_001243133.2(NLRP3):c.3005+7G>A rs200659209 0.00009
NM_001243133.2(NLRP3):c.526C>T (p.Arg176Trp) rs201867990 0.00009
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) rs143140947 0.00007
NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=) rs201976178 0.00007
NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=) rs151097783 0.00007
NM_001243133.2(NLRP3):c.225G>A (p.Ala75=) rs140219362 0.00007
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala) rs770791406 0.00007
NM_001243133.2(NLRP3):c.277+11G>A rs577522959 0.00007
NM_001243133.2(NLRP3):c.2940C>T (p.Gly980=) rs199649583 0.00007
NM_001243133.2(NLRP3):c.1323C>T (p.Tyr441=) rs200269703 0.00006
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 0.00006
NM_001243133.2(NLRP3):c.2150+16T>C rs368389907 0.00006
NM_001243133.2(NLRP3):c.2214C>T (p.Ser738=) rs183128734 0.00006
NM_001243133.2(NLRP3):c.2425G>A (p.Gly809Ser) rs141389711 0.00006
NM_001243133.2(NLRP3):c.2709C>G (p.Ser903=) rs145787821 0.00006
NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His) rs148150585 0.00006
NM_001243133.2(NLRP3):c.2987G>C (p.Cys996Ser) rs199517145 0.00006
NM_001243133.2(NLRP3):c.398-15C>T rs200906786 0.00006
NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys) rs369910640 0.00005
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) rs200082602 0.00005
NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=) rs147154764 0.00005
NM_001243133.2(NLRP3):c.309T>C (p.Thr103=) rs199822721 0.00005
NM_001243133.2(NLRP3):c.1116C>T (p.Ser372=) rs374056197 0.00004
NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met) rs199856287 0.00004
NM_001243133.2(NLRP3):c.2270G>C (p.Arg757Thr) rs201466599 0.00004
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala) rs200089542 0.00004
NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn) rs202050558 0.00004
NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=) rs201644343 0.00003
NM_001243133.2(NLRP3):c.171C>T (p.Ile57=) rs773673175 0.00003
NM_001243133.2(NLRP3):c.2150+12C>T rs201291967 0.00003
NM_001243133.2(NLRP3):c.2321+11G>A rs371752834 0.00003
NM_001243133.2(NLRP3):c.2536G>C (p.Ala846Pro) rs773376112 0.00003
NM_001243133.2(NLRP3):c.299C>T (p.Ser100Leu) rs776897356 0.00003
NM_001243133.2(NLRP3):c.3037A>G (p.Lys1013Glu) rs771315000 0.00003
NM_001243133.2(NLRP3):c.587G>A (p.Ser196Asn) rs180177459 0.00003
NM_001243133.2(NLRP3):c.1102A>C (p.Ile368Leu) rs200735245 0.00002
NM_001243133.2(NLRP3):c.1333C>T (p.Leu445Phe) rs202121800 0.00002
NM_001243133.2(NLRP3):c.1362G>C (p.Gly454=) rs200314422 0.00002
NM_001243133.2(NLRP3):c.2322-6A>G rs778792605 0.00002
NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp) rs768252357 0.00002
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00002
NM_001243133.2(NLRP3):c.2553C>G (p.Thr851=) rs756892237 0.00002
NM_001243133.2(NLRP3):c.2738C>T (p.Thr913Met) rs765925466 0.00002
NM_001243133.2(NLRP3):c.2856G>A (p.Thr952=) rs200474558 0.00002
NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) rs188623199 0.00002
NM_001243133.2(NLRP3):c.503G>A (p.Arg168Gln) rs180177464 0.00002
NM_001243133.2(NLRP3):c.1183A>G (p.Ser395Gly) rs747102656 0.00001
NM_001243133.2(NLRP3):c.13C>T (p.Arg5Cys) rs1033902069 0.00001
NM_001243133.2(NLRP3):c.146A>G (p.His49Arg) rs367663649 0.00001
NM_001243133.2(NLRP3):c.1666G>A (p.Val556Met) rs199637520 0.00001
NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val) rs1366541794 0.00001
NM_001243133.2(NLRP3):c.1800G>A (p.Gln600=) rs1018524884 0.00001
NM_001243133.2(NLRP3):c.1839A>T (p.Lys613Asn) rs876660973 0.00001
NM_001243133.2(NLRP3):c.194C>G (p.Ala65Gly) rs763252989 0.00001
NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn) rs781561828 0.00001
NM_001243133.2(NLRP3):c.2151-11C>T rs201019209 0.00001
NM_001243133.2(NLRP3):c.2392C>A (p.Leu798Met) rs756392002 0.00001
NM_001243133.2(NLRP3):c.2492+13C>T rs199746830 0.00001
NM_001243133.2(NLRP3):c.2492+3G>A rs754098297 0.00001
NM_001243133.2(NLRP3):c.2492+8G>A rs201453934 0.00001
NM_001243133.2(NLRP3):c.369G>A (p.Ser123=) rs750104265 0.00001
NM_001243133.2(NLRP3):c.628G>A (p.Asp210Asn) rs372038150 0.00001
NM_001243133.2(NLRP3):c.717G>T (p.Leu239Phe) rs770294045 0.00001
NM_001243133.2(NLRP3):c.728C>T (p.Ser243Leu) rs1572168591 0.00001
NM_001243133.2(NLRP3):c.*1G>T rs2103261881
NM_001243133.2(NLRP3):c.-79C>T rs2103083187
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001243133.2(NLRP3):c.1064A>G (p.Lys355Arg) rs876660972
NM_001243133.2(NLRP3):c.1065A>C (p.Lys355Asn) rs1131691298
NM_001243133.2(NLRP3):c.10A>G (p.Thr4Ala)
NM_001243133.2(NLRP3):c.1131A>G (p.Lys377=) rs755556220
NM_001243133.2(NLRP3):c.1201G>A (p.Glu401Lys)
NM_001243133.2(NLRP3):c.1213A>C (p.Thr405Pro) rs180177445
NM_001243133.2(NLRP3):c.1246G>A (p.Val416Met)
NM_001243133.2(NLRP3):c.1297A>G (p.Thr433Ala) rs876661016
NM_001243133.2(NLRP3):c.1306A>G (p.Thr436Ala) rs180177465
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.1374C>T (p.His458=) rs180177481
NM_001243133.2(NLRP3):c.1456G>A (p.Asp486Asn)
NM_001243133.2(NLRP3):c.1551C>G (p.Ser517Arg)
NM_001243133.2(NLRP3):c.1554C>T (p.Phe518=) rs2103111350
NM_001243133.2(NLRP3):c.1630G>C (p.Val544Leu) rs202204283
NM_001243133.2(NLRP3):c.1705G>A (p.Gly569Arg) rs121908151
NM_001243133.2(NLRP3):c.1709A>G (p.Tyr570Cys) rs180177438
NM_001243133.2(NLRP3):c.172G>A (p.Asp58Asn) rs1131691891
NM_001243133.2(NLRP3):c.1783A>G (p.Ser595Gly) rs1553287287
NM_001243133.2(NLRP3):c.1842C>G (p.Ala614=) rs1410028681
NM_001243133.2(NLRP3):c.195G>A (p.Ala65=) rs201205620
NM_001243133.2(NLRP3):c.2068G>T (p.Glu690Ter)
NM_001243133.2(NLRP3):c.2087G>T (p.Gly696Val)
NM_001243133.2(NLRP3):c.2112T>C (p.Cys704=) rs2103114029
NM_001243133.2(NLRP3):c.2132A>T (p.His711Leu) rs767805817
NM_001243133.2(NLRP3):c.2133T>A (p.His711Gln) rs2103114172
NM_001243133.2(NLRP3):c.2150+98A>G rs2103114731
NM_001243133.2(NLRP3):c.2151-16T>A rs1057524463
NM_001243133.2(NLRP3):c.2151-5C>G rs2103132130
NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=) rs201102829
NM_001243133.2(NLRP3):c.224C>A (p.Ala75Glu) rs200288250
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val) rs200288250
NM_001243133.2(NLRP3):c.2257G>A (p.Asp753Asn)
NM_001243133.2(NLRP3):c.2299G>A (p.Gly767Ser) rs866534904
NM_001243133.2(NLRP3):c.2322-155T>C rs113427259
NM_001243133.2(NLRP3):c.2322G>T (p.Trp774Cys)
NM_001243133.2(NLRP3):c.2330G>A (p.Arg777His) rs1663599540
NM_001243133.2(NLRP3):c.2377A>G (p.Ser793Gly) rs1064797023
NM_001243133.2(NLRP3):c.2474G>T (p.Cys825Phe)
NM_001243133.2(NLRP3):c.2476A>C (p.Asn826His)
NM_001243133.2(NLRP3):c.2492+54C>T rs72771997
NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=) rs1351993448
NM_001243133.2(NLRP3):c.2519C>A (p.Ala840Glu) rs992612861
NM_001243133.2(NLRP3):c.2521T>G (p.Cys841Gly) rs2103173487
NM_001243133.2(NLRP3):c.2551A>G (p.Thr851Ala)
NM_001243133.2(NLRP3):c.2565G>T (p.Leu855=) rs2103173872
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) rs2103174031
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) rs180177452
NM_001243133.2(NLRP3):c.2738C>G (p.Thr913Arg)
NM_001243133.2(NLRP3):c.2744T>G (p.Leu915Arg) rs2103233077
NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln) rs1553293095
NM_001243133.2(NLRP3):c.2756G>A (p.Gly919Asp) rs2103233129
NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn) rs876660975
NM_001243133.2(NLRP3):c.2834+37T>C rs1664438506
NM_001243133.2(NLRP3):c.2835-10del rs1558210190
NM_001243133.2(NLRP3):c.2855C>A (p.Thr952Lys) rs139814109
NM_001243133.2(NLRP3):c.2862C>T (p.His954=) rs2103237927
NM_001243133.2(NLRP3):c.2889_2896delinsTTCCACACTTTC (p.Thr964fs) rs1553293315
NM_001243133.2(NLRP3):c.292C>T (p.Arg98Cys) rs375013904
NM_001243133.2(NLRP3):c.2944C>G (p.Leu982Val) rs1572229891
NM_001243133.2(NLRP3):c.2963G>C (p.Cys988Ser) rs876660974
NM_001243133.2(NLRP3):c.3071C>T (p.Pro1024Leu)
NM_001243133.2(NLRP3):c.3095C>A (p.Pro1032His) rs2103261854
NM_001243133.2(NLRP3):c.336A>G (p.Glu112=) rs1064796501
NM_001243133.2(NLRP3):c.398-49C>T rs1362265668
NM_001243133.2(NLRP3):c.532_535del (p.Gln178fs)
NM_001243133.2(NLRP3):c.570G>A (p.Lys190=) rs1553286256
NM_001243133.2(NLRP3):c.578C>T (p.Thr193Met) rs76291085
NM_001243133.2(NLRP3):c.618G>A (p.Leu206=) rs201463849
NM_001243133.2(NLRP3):c.627C>T (p.Pro209=) rs554444159
NM_001243133.2(NLRP3):c.715T>A (p.Leu239Met) rs1395728949
NM_001243133.2(NLRP3):c.725C>T (p.Ala242Val) rs1041601343
NM_001243133.2(NLRP3):c.743A>G (p.Gln248Arg) rs876660971
NM_001243133.2(NLRP3):c.760C>A (p.Leu254Met) rs1553286385
NM_001243133.2(NLRP3):c.769A>T (p.Ile257Phe) rs2103107022
NM_001243133.2(NLRP3):c.76C>T (p.His26Tyr) rs763551829
NM_001243133.2(NLRP3):c.770T>A (p.Ile257Asn) rs2103107030
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) rs121908150
NM_001243133.2(NLRP3):c.785T>G (p.Val262Gly) rs104895392
NM_001243133.2(NLRP3):c.810G>A (p.Leu270=) rs2103107257
NM_001243133.2(NLRP3):c.86A>T (p.Asp29Val) rs2103083832
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) rs121908153
NM_001243133.2(NLRP3):c.910G>A (p.Glu304Lys) rs180177484
NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro) rs180177431
NM_001243133.2(NLRP3):c.919G>C (p.Gly307Arg) rs1057524777

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