ClinVar Miner

List of variants in gene NLRP3 studied for Familial cold autoinflammatory syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 178
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.-411T>C rs7523422 0.99765
NM_001243133.2(NLRP3):c.780A>G (p.Arg260=) rs4925543 0.92770
NM_001243133.2(NLRP3):c.*230G>C rs10754558 0.63911
NM_004895.4(NLRP3):c.*489C>T rs10802502 0.54558
NM_001243133.2(NLRP3):c.277+83_277+85del rs368835809 0.33560
NM_004895.4(NLRP3):c.*396T>A rs10802501 0.17224
NM_001243133.2(NLRP3):c.657C>T (p.Thr219=) rs7525979 0.10943
NM_001243133.2(NLRP3):c.-561T>G rs72771992 0.10410
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=) rs34298354 0.08679
NM_001243133.2(NLRP3):c.-40G>T rs73136263 0.03689
NM_001243133.2(NLRP3):c.-231G>A rs138900557 0.03547
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.-543A>T rs116502550 0.00720
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 0.00680
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.-533C>T rs141994679 0.00230
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.*116G>T rs199713471 0.00136
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.2301C>G (p.Gly767=) rs150229101 0.00057
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.203T>C (p.Met68Thr) rs147559626 0.00048
NM_001243133.2(NLRP3):c.-460G>A rs199475727 0.00046
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.-710C>T rs199723383 0.00038
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.-686C>T rs201896158 0.00026
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.-68C>T rs201758466 0.00020
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=) rs104895398 0.00020
NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val) rs180177493 0.00019
NM_001243133.2(NLRP3):c.-369G>A rs202203407 0.00014
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) rs143140947 0.00007
NM_001243133.2(NLRP3):c.277+11G>A rs577522959 0.00007
NM_001243133.2(NLRP3):c.-407C>T rs12741165 0.00006
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 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.398-15C>T rs200906786 0.00006
NM_001243133.2(NLRP3):c.398-5C>T rs200459664 0.00006
NM_001243133.2(NLRP3):c.-122T>C rs202234129 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.-629C>T rs200090360 0.00004
NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=) rs895366086 0.00004
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala) rs200089542 0.00004
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile) rs374170024 0.00004
NM_001243133.2(NLRP3):c.-339C>T rs201966092 0.00003
NM_001243133.2(NLRP3):c.-74G>A rs202076321 0.00003
NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=) rs201644343 0.00003
NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala) rs180177461 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.-203G>A rs1042817230 0.00002
NM_001243133.2(NLRP3):c.-219G>A rs1282180723 0.00002
NM_001243133.2(NLRP3):c.2433C>T (p.Phe811=) rs143175395 0.00002
NM_001243133.2(NLRP3):c.503G>A (p.Arg168Gln) rs180177464 0.00002
NM_001243133.2(NLRP3):c.-685G>A rs768557674 0.00001
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys) rs201384608 0.00001
NM_001243133.2(NLRP3):c.1484C>T (p.Ala495Val) rs180177474 0.00001
NM_001243133.2(NLRP3):c.1660C>T (p.Arg554Ter) rs180177460 0.00001
NM_001243133.2(NLRP3):c.194C>G (p.Ala65Gly) rs763252989 0.00001
NM_001243133.2(NLRP3):c.234G>A (p.Arg78=) rs202232879 0.00001
NM_001243133.2(NLRP3):c.2598A>G (p.Gly866=) rs763106202 0.00001
NM_001243133.2(NLRP3):c.28A>C (p.Arg10=) rs1057515531 0.00001
NM_004895.4(NLRP3):c.*431G>A rs1296786716 0.00001
NM_004895.4(NLRP3):c.*604A>C rs1057515532 0.00001
NM_001243133.2(NLRP3):c.*139T>G rs1664758254
NM_001243133.2(NLRP3):c.*2A>G rs1664748029
NM_001243133.2(NLRP3):c.-523G>A rs1662192950
NM_001243133.2(NLRP3):c.-533C>G rs141994679
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met) rs180177463
NM_001243133.2(NLRP3):c.1051G>C (p.Val351Leu) rs180177463
NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr) rs180177503
NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val) rs121908149
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001243133.2(NLRP3):c.1062G>T (p.Glu354Asp) rs180177444
NM_001243133.2(NLRP3):c.1073A>G (p.His358Arg) rs180177434
NM_001243133.2(NLRP3):c.1121C>A (p.Ala374Asp) rs180177437
NM_001243133.2(NLRP3):c.1213A>C (p.Thr405Pro) rs180177445
NM_001243133.2(NLRP3):c.1218G>C (p.Met406Ile) rs180177486
NM_001243133.2(NLRP3):c.1241G>T (p.Trp414Leu) rs180177496
NM_001243133.2(NLRP3):c.1306A>C (p.Thr436Pro) rs180177465
NM_001243133.2(NLRP3):c.1306A>G (p.Thr436Ala) rs180177465
NM_001243133.2(NLRP3):c.1306ACC[2] (p.Thr438del) rs180177492
NM_001243133.2(NLRP3):c.1307C>A (p.Thr436Asn) rs180177433
NM_001243133.2(NLRP3):c.1307C>T (p.Thr436Ile) rs180177433
NM_001243133.2(NLRP3):c.1315G>A (p.Ala439Thr) rs180177430
NM_001243133.2(NLRP3):c.1315G>C (p.Ala439Pro) rs180177430
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.1321T>C (p.Tyr441His) rs180177499
NM_001243133.2(NLRP3):c.1329C>G (p.Phe443Leu) rs180177477
NM_001243133.2(NLRP3):c.1374C>T (p.His458=) rs180177481
NM_001243133.2(NLRP3):c.1431C>A (p.Asn477Lys) rs180177485
NM_001243133.2(NLRP3):c.1438A>T (p.Ile480Phe) rs180177482
NM_001243133.2(NLRP3):c.1440C>A (p.Ile480=) rs756162800
NM_001243133.2(NLRP3):c.1493C>G (p.Ser498Cys)
NM_001243133.2(NLRP3):c.1568T>G (p.Phe523Cys) rs180177478
NM_001243133.2(NLRP3):c.1569C>A (p.Phe523Leu) rs180177439
NM_001243133.2(NLRP3):c.1569C>G (p.Phe523Leu) rs180177439
NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys) rs180177458
NM_001243133.2(NLRP3):c.1687T>A (p.Tyr563Asn) rs180177479
NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys) rs104895389
NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg) rs121908151
NM_001243133.2(NLRP3):c.1706G>C (p.Gly569Ala) rs180177491
NM_001243133.2(NLRP3):c.1709A>G (p.Tyr570Cys) rs180177438
NM_001243133.2(NLRP3):c.1709A>T (p.Tyr570Phe) rs180177438
NM_001243133.2(NLRP3):c.1713G>T (p.Leu571Phe) rs180177489
NM_001243133.2(NLRP3):c.1714A>T (p.Ile572Phe) rs180177490
NM_001243133.2(NLRP3):c.1718T>C (p.Phe573Ser) rs121908152
NM_001243133.2(NLRP3):c.1760C>T (p.Thr587Ile) rs180177467
NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly) rs121908148
NM_001243133.2(NLRP3):c.1896G>T (p.Leu632Phe) rs180177446
NM_001243133.2(NLRP3):c.1976T>A (p.Met659Lys) rs180177457
NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr) rs180177435
NM_001243133.2(NLRP3):c.2062G>A (p.Glu688Lys) rs104895414
NM_001243133.2(NLRP3):c.2068G>A (p.Glu690Lys) rs180177495
NM_001243133.2(NLRP3):c.2102T>C (p.Met701Thr) rs180177497
NM_001243133.2(NLRP3):c.2129C>G (p.Ser710Cys) rs180177454
NM_001243133.2(NLRP3):c.2185C>A (p.Arg729=) rs148590318
NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu) rs1305028279
NM_001243133.2(NLRP3):c.2263G>C (p.Gly755Arg) rs180177469
NM_001243133.2(NLRP3):c.2264G>C (p.Gly755Ala) rs180177473
NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=) rs1351993448
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) rs180177452
NM_001243133.2(NLRP3):c.2632A>G (p.Lys878Glu) rs1057515488
NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly) rs375013904
NM_001243133.2(NLRP3):c.3042T>C (p.Ser1014=) rs1057515489
NM_001243133.2(NLRP3):c.398-56C>T rs180177455
NM_001243133.2(NLRP3):c.443G>A (p.Cys148Tyr) rs180177487
NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr) rs180177449
NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser) rs201877163
NM_001243133.2(NLRP3):c.699G>A (p.Leu233=) rs180177498
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=) rs3806268
NM_001243133.2(NLRP3):c.743A>G (p.Gln248Arg) rs876660971
NM_001243133.2(NLRP3):c.777T>G (p.Cys259Trp) rs180177475
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) rs121908150
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro) rs180177442
NM_001243133.2(NLRP3):c.779G>T (p.Arg260Leu) rs180177442
NM_001243133.2(NLRP3):c.785T>C (p.Val262Ala) rs104895392
NM_001243133.2(NLRP3):c.785T>G (p.Val262Gly) rs104895392
NM_001243133.2(NLRP3):c.790C>G (p.Leu264Val) rs180177476
NM_001243133.2(NLRP3):c.790C>T (p.Leu264Phe) rs180177476
NM_001243133.2(NLRP3):c.791T>A (p.Leu264His) rs180177436
NM_001243133.2(NLRP3):c.791T>G (p.Leu264Arg) rs180177436
NM_001243133.2(NLRP3):c.895A>G (p.Met299Val) rs180177494
NM_001243133.2(NLRP3):c.902G>A (p.Gly301Asp) rs180177441
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) rs121908153
NM_001243133.2(NLRP3):c.907G>C (p.Asp303His) rs121908153
NM_001243133.2(NLRP3):c.908A>G (p.Asp303Gly) rs180177447
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.916C>A (p.Gln306Lys) rs180177432
NM_001243133.2(NLRP3):c.916C>G (p.Gln306Glu) rs180177432
NM_001243133.2(NLRP3):c.920G>T (p.Gly307Val) rs180177468
NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser) rs121908154
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys) rs180177470
NM_001243133.2(NLRP3):c.935A>C (p.His312Pro) rs180177488
NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu) rs1662708025
NM_001243133.2(NLRP3):c.973C>T (p.Arg325Trp) rs180177500
NM_001243133.2(NLRP3):c.977G>A (p.Gly326Glu) rs180177456
NM_001243133.2(NLRP3):c.993C>A (p.Ser331Arg) rs180177451
NM_001243133.2(NLRP3):c.994A>G (p.Ser332Gly) rs672601258
NM_004895.3:c.3006-45_3006-44del
NM_004895.4(NLRP3):c.*378A>C rs1664772078

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.