ClinVar Miner

List of variants in gene NLRP3 reported by Unité médicale des maladies autoinflammatoires, CHRU Montpellier

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Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP
NM_004895.3:c.3006-45_3006-44del
NM_004895.4(NLRP3):c.1000A>G (p.Ser334Gly) rs672601258
NM_004895.4(NLRP3):c.1038G>A (p.Leu346=) rs180177471
NM_004895.4(NLRP3):c.1049C>T (p.Thr350Met) rs151344629
NM_004895.4(NLRP3):c.1057G>A (p.Val353Met) rs180177463
NM_004895.4(NLRP3):c.1057G>C (p.Val353Leu) rs180177463
NM_004895.4(NLRP3):c.1060G>A (p.Ala354Thr) rs180177503
NM_004895.4(NLRP3):c.1061C>T (p.Ala354Val) rs121908149
NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro) rs28937896
NM_004895.4(NLRP3):c.1068G>T (p.Glu356Asp) rs180177444
NM_004895.4(NLRP3):c.1079A>G (p.His360Arg) rs180177434
NM_004895.4(NLRP3):c.1127C>A (p.Ala376Asp) rs180177437
NM_004895.4(NLRP3):c.1219A>C (p.Thr407Pro) rs180177445
NM_004895.4(NLRP3):c.1224G>C (p.Met408Ile) rs180177486
NM_004895.4(NLRP3):c.1237C>T (p.Leu413=) rs148478875
NM_004895.4(NLRP3):c.1247G>T (p.Trp416Leu) rs180177496
NM_004895.4(NLRP3):c.1312A>C (p.Thr438Pro) rs180177465
NM_004895.4(NLRP3):c.1312A>G (p.Thr438Ala) rs180177465
NM_004895.4(NLRP3):c.1312_1314ACC[2] (p.Thr440del) rs180177492
NM_004895.4(NLRP3):c.1313C>A (p.Thr438Asn) rs180177433
NM_004895.4(NLRP3):c.1313C>T (p.Thr438Ile) rs180177433
NM_004895.4(NLRP3):c.1321G>A (p.Ala441Thr) rs180177430
NM_004895.4(NLRP3):c.1321G>C (p.Ala441Pro) rs180177430
NM_004895.4(NLRP3):c.1322C>T (p.Ala441Val) rs121908146
NM_004895.4(NLRP3):c.1327T>C (p.Tyr443His) rs180177499
NM_004895.4(NLRP3):c.1335C>G (p.Phe445Leu) rs180177477
NM_004895.4(NLRP3):c.1380C>T (p.His460=) rs180177481
NM_004895.4(NLRP3):c.1389C>T (p.Cys463=) rs104895398
NM_004895.4(NLRP3):c.1395C>T (p.His465=) rs111400208
NM_004895.4(NLRP3):c.1437C>A (p.Asn479Lys) rs180177485
NM_004895.4(NLRP3):c.1444A>T (p.Ile482Phe) rs180177482
NM_004895.4(NLRP3):c.1469G>A (p.Arg490Lys) rs145268073
NM_004895.4(NLRP3):c.1490C>T (p.Ala497Val) rs180177474
NM_004895.4(NLRP3):c.1574T>G (p.Phe525Cys) rs180177478
NM_004895.4(NLRP3):c.1575C>A (p.Phe525Leu) rs180177439
NM_004895.4(NLRP3):c.1575C>G (p.Phe525Leu) rs180177439
NM_004895.4(NLRP3):c.1579G>A (p.Glu527Lys) rs180177458
NM_004895.4(NLRP3):c.1606C>T (p.Leu536=) rs116054301
NM_004895.4(NLRP3):c.1666C>T (p.Arg556Ter) rs180177460
NM_004895.4(NLRP3):c.1675A>G (p.Thr559Ala) rs180177461
NM_004895.4(NLRP3):c.1693T>A (p.Tyr565Asn) rs180177479
NM_004895.4(NLRP3):c.1705G>A (p.Glu569Lys) rs104895389
NM_004895.4(NLRP3):c.1711G>C (p.Gly571Arg) rs121908151
NM_004895.4(NLRP3):c.1712G>C (p.Gly571Ala) rs180177491
NM_004895.4(NLRP3):c.1715A>G (p.Tyr572Cys) rs180177438
NM_004895.4(NLRP3):c.1715A>T (p.Tyr572Phe) rs180177438
NM_004895.4(NLRP3):c.1719G>T (p.Leu573Phe) rs180177489
NM_004895.4(NLRP3):c.1720A>T (p.Ile574Phe) rs180177490
NM_004895.4(NLRP3):c.1724T>C (p.Phe575Ser) rs121908152
NM_004895.4(NLRP3):c.1766C>T (p.Thr589Ile) rs180177467
NM_004895.4(NLRP3):c.1886A>G (p.Glu629Gly) rs121908148
NM_004895.4(NLRP3):c.1902G>T (p.Leu634Phe) rs180177446
NM_004895.4(NLRP3):c.1982T>A (p.Met661Lys) rs180177457
NM_004895.4(NLRP3):c.1991T>C (p.Met664Thr) rs180177435
NM_004895.4(NLRP3):c.2068G>A (p.Glu690Lys) rs104895414
NM_004895.4(NLRP3):c.2074G>A (p.Glu692Lys) rs180177495
NM_004895.4(NLRP3):c.2108T>C (p.Met703Thr) rs180177497
NM_004895.4(NLRP3):c.2135C>G (p.Ser712Cys) rs180177454
NM_004895.4(NLRP3):c.2269G>C (p.Gly757Arg) rs180177469
NM_004895.4(NLRP3):c.2270G>C (p.Gly757Ala) rs180177473
NM_004895.4(NLRP3):c.2582A>G (p.Tyr861Cys) rs180177452
NM_004895.4(NLRP3):c.404-56C>T rs180177455
NM_004895.4(NLRP3):c.449G>A (p.Cys150Tyr) rs180177487
NM_004895.4(NLRP3):c.509G>A (p.Arg170Gln) rs180177464
NM_004895.4(NLRP3):c.521T>C (p.Ile174Thr) rs180177449
NM_004895.4(NLRP3):c.593G>A (p.Ser198Asn) rs180177459
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004895.4(NLRP3):c.680C>T (p.Ala227Val) rs180177493
NM_004895.4(NLRP3):c.705G>A (p.Leu235=) rs180177498
NM_004895.4(NLRP3):c.783T>G (p.Cys261Trp) rs180177475
NM_004895.4(NLRP3):c.784C>T (p.Arg262Trp) rs121908150
NM_004895.4(NLRP3):c.785G>C (p.Arg262Pro) rs180177442
NM_004895.4(NLRP3):c.785G>T (p.Arg262Leu) rs180177442
NM_004895.4(NLRP3):c.791T>C (p.Val264Ala) rs104895392
NM_004895.4(NLRP3):c.791T>G (p.Val264Gly) rs104895392
NM_004895.4(NLRP3):c.796C>G (p.Leu266Val) rs180177476
NM_004895.4(NLRP3):c.796C>T (p.Leu266Phe) rs180177476
NM_004895.4(NLRP3):c.797T>A (p.Leu266His) rs180177436
NM_004895.4(NLRP3):c.797T>G (p.Leu266Arg) rs180177436
NM_004895.4(NLRP3):c.901A>G (p.Met301Val) rs180177494
NM_004895.4(NLRP3):c.908G>A (p.Gly303Asp) rs180177441
NM_004895.4(NLRP3):c.913G>A (p.Asp305Asn) rs121908153
NM_004895.4(NLRP3):c.913G>C (p.Asp305His) rs121908153
NM_004895.4(NLRP3):c.914A>G (p.Asp305Gly) rs180177447
NM_004895.4(NLRP3):c.916G>A (p.Glu306Lys) rs180177484
NM_004895.4(NLRP3):c.920T>C (p.Leu307Pro) rs180177431
NM_004895.4(NLRP3):c.922C>A (p.Gln308Lys) rs180177432
NM_004895.4(NLRP3):c.922C>G (p.Gln308Glu) rs180177432
NM_004895.4(NLRP3):c.926G>T (p.Gly309Val) rs180177468
NM_004895.4(NLRP3):c.932T>C (p.Phe311Ser) rs121908154
NM_004895.4(NLRP3):c.936C>T (p.Asp312=) rs143840033
NM_004895.4(NLRP3):c.937G>A (p.Glu313Lys) rs180177470
NM_004895.4(NLRP3):c.941A>C (p.His314Pro) rs180177488
NM_004895.4(NLRP3):c.943A>G (p.Ile315Val) rs180177501
NM_004895.4(NLRP3):c.950C>T (p.Pro317Leu) rs180177462
NM_004895.4(NLRP3):c.979C>T (p.Arg327Trp) rs180177500
NM_004895.4(NLRP3):c.983G>A (p.Gly328Glu) rs180177456
NM_004895.4(NLRP3):c.999C>A (p.Ser333Arg) rs180177451

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