ClinVar Miner

List of variants in gene NLRP3 studied for Familial cold urticaria

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Gene type:
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Total variants: 176
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HGVS dbSNP
NC_000001.11:g.247448882A>C
NC_000001.11:g.247448935G>A
NM_001243133.1(NLRP3):c.1051G>A (p.Val351Met) rs180177463
NM_001243133.1(NLRP3):c.1051G>C (p.Val351Leu) rs180177463
NM_001243133.1(NLRP3):c.1054G>A (p.Ala352Thr) rs180177503
NM_001243133.1(NLRP3):c.1062G>T (p.Glu354Asp) rs180177444
NM_001243133.1(NLRP3):c.1073A>G (p.His358Arg) rs180177434
NM_001243133.1(NLRP3):c.1121C>A (p.Ala374Asp) rs180177437
NM_001243133.1(NLRP3):c.1218G>C (p.Met406Ile) rs180177486
NM_001243133.1(NLRP3):c.1241G>T (p.Trp414Leu) rs180177496
NM_001243133.1(NLRP3):c.1306A>C (p.Thr436Pro) rs180177465
NM_001243133.1(NLRP3):c.1307C>A (p.Thr436Asn) rs180177433
NM_001243133.1(NLRP3):c.1315G>A (p.Ala439Thr) rs180177430
NM_001243133.1(NLRP3):c.1315G>C (p.Ala439Pro) rs180177430
NM_001243133.1(NLRP3):c.1321T>C (p.Tyr441His) rs180177499
NM_001243133.1(NLRP3):c.1329C>G (p.Phe443Leu) rs180177477
NM_001243133.1(NLRP3):c.1383C>T (p.Cys461=) rs104895398
NM_001243133.1(NLRP3):c.1431C>A (p.Asn477Lys) rs180177485
NM_001243133.1(NLRP3):c.1438A>T (p.Ile480Phe) rs180177482
NM_001243133.1(NLRP3):c.1484C>T (p.Ala495Val) rs180177474
NM_001243133.1(NLRP3):c.1568T>G (p.Phe523Cys) rs180177478
NM_001243133.1(NLRP3):c.1569C>A (p.Phe523Leu) rs180177439
NM_001243133.1(NLRP3):c.1569C>G (p.Phe523Leu) rs180177439
NM_001243133.1(NLRP3):c.1660C>T (p.Arg554Ter) rs180177460
NM_001243133.1(NLRP3):c.1687T>A (p.Tyr563Asn) rs180177479
NM_001243133.1(NLRP3):c.1705G>C (p.Gly569Arg) rs121908151
NM_001243133.1(NLRP3):c.1706G>C (p.Gly569Ala) rs180177491
NM_001243133.1(NLRP3):c.1709A>G (p.Tyr570Cys) rs180177438
NM_001243133.1(NLRP3):c.1709A>T (p.Tyr570Phe) rs180177438
NM_001243133.1(NLRP3):c.1714A>T (p.Ile572Phe) rs180177490
NM_001243133.1(NLRP3):c.1718T>C (p.Phe573Ser) rs121908152
NM_001243133.1(NLRP3):c.1760C>T (p.Thr587Ile) rs180177467
NM_001243133.1(NLRP3):c.1880A>G (p.Glu627Gly) rs121908148
NM_001243133.1(NLRP3):c.1896G>T (p.Leu632Phe) rs180177446
NM_001243133.1(NLRP3):c.1976T>A (p.Met659Lys) rs180177457
NM_001243133.1(NLRP3):c.1985T>C (p.Met662Thr) rs180177435
NM_001243133.1(NLRP3):c.2062G>A (p.Glu688Lys) rs104895414
NM_001243133.1(NLRP3):c.2068G>A (p.Glu690Lys) rs180177495
NM_001243133.1(NLRP3):c.2102T>C (p.Met701Thr) rs180177497
NM_001243133.1(NLRP3):c.2129C>G (p.Ser710Cys) rs180177454
NM_001243133.1(NLRP3):c.2263G>C (p.Gly755Arg) rs180177469
NM_001243133.1(NLRP3):c.2264G>C (p.Gly755Ala) rs180177473
NM_001243133.1(NLRP3):c.398-56C>T rs180177455
NM_001243133.1(NLRP3):c.443G>A (p.Cys148Tyr) rs180177487
NM_001243133.1(NLRP3):c.503G>A (p.Arg168Gln) rs180177464
NM_001243133.1(NLRP3):c.515T>C (p.Ile172Thr) rs180177449
NM_001243133.1(NLRP3):c.699G>A (p.Leu233=) rs180177498
NM_001243133.1(NLRP3):c.777T>G (p.Cys259Trp) rs180177475
NM_001243133.1(NLRP3):c.779G>T (p.Arg260Leu) rs180177442
NM_001243133.1(NLRP3):c.785T>C (p.Val262Ala) rs104895392
NM_001243133.1(NLRP3):c.785T>G (p.Val262Gly) rs104895392
NM_001243133.1(NLRP3):c.790C>G (p.Leu264Val) rs180177476
NM_001243133.1(NLRP3):c.790C>T (p.Leu264Phe) rs180177476
NM_001243133.1(NLRP3):c.791T>A (p.Leu264His) rs180177436
NM_001243133.1(NLRP3):c.791T>G (p.Leu264Arg) rs180177436
NM_001243133.1(NLRP3):c.895A>G (p.Met299Val) rs180177494
NM_001243133.1(NLRP3):c.902G>A (p.Gly301Asp) rs180177441
NM_001243133.1(NLRP3):c.907G>C (p.Asp303His) rs121908153
NM_001243133.1(NLRP3):c.908A>G (p.Asp303Gly) rs180177447
NM_001243133.1(NLRP3):c.916C>A (p.Gln306Lys) rs180177432
NM_001243133.1(NLRP3):c.916C>G (p.Gln306Glu) rs180177432
NM_001243133.1(NLRP3):c.926T>C (p.Phe309Ser) rs121908154
NM_001243133.1(NLRP3):c.931G>A (p.Glu311Lys) rs180177470
NM_001243133.1(NLRP3):c.935A>C (p.His312Pro) rs180177488
NM_001243133.1(NLRP3):c.973C>T (p.Arg325Trp) rs180177500
NM_001243133.1(NLRP3):c.993C>A (p.Ser331Arg) rs180177451
NM_001243133.2(NLRP3):c.*116G>T
NM_001243133.2(NLRP3):c.*139T>G
NM_001243133.2(NLRP3):c.*2A>G
NM_001243133.2(NLRP3):c.-219G>A
NM_001243133.2(NLRP3):c.-339C>T
NM_001243133.2(NLRP3):c.-369G>A
NM_001243133.2(NLRP3):c.-407C>T
NM_001243133.2(NLRP3):c.-523G>A
NM_001243133.2(NLRP3):c.-686C>T
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=) rs148478875
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=) rs34298354
NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=)
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) rs200082602
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419
NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu)
NM_001243133.2(NLRP3):c.234G>A (p.Arg78=)
NM_001243133.2(NLRP3):c.2433C>T (p.Phe811=)
NM_001243133.2(NLRP3):c.2598A>G (p.Gly866=)
NM_001243133.2(NLRP3):c.277+83_277+85del rs368835809
NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly)
NM_001243133.2(NLRP3):c.398-15C>T
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile)
NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser)
NM_001243133.2(NLRP3):c.657C>T (p.Thr219=) rs7525979
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=) rs3806268
NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu)
NM_004895.3:c.3006-45_3006-44del
NM_004895.4(NLRP3):c.*230G>C rs10754558
NM_004895.4(NLRP3):c.*396T>A rs10802501
NM_004895.4(NLRP3):c.*489C>T rs10802502
NM_004895.4(NLRP3):c.*604A>C rs1057515532
NM_004895.4(NLRP3):c.-116T>C rs202234129
NM_004895.4(NLRP3):c.-197G>A rs1042817230
NM_004895.4(NLRP3):c.-225G>A rs138900557
NM_004895.4(NLRP3):c.-34G>T rs73136263
NM_004895.4(NLRP3):c.-405T>C rs7523422
NM_004895.4(NLRP3):c.-454G>A rs199475727
NM_004895.4(NLRP3):c.-527C>G rs141994679
NM_004895.4(NLRP3):c.-527C>T rs141994679
NM_004895.4(NLRP3):c.-537A>T rs116502550
NM_004895.4(NLRP3):c.-555T>G rs72771992
NM_004895.4(NLRP3):c.-623C>T rs200090360
NM_004895.4(NLRP3):c.-62C>T rs201758466
NM_004895.4(NLRP3):c.-679G>A rs768557674
NM_004895.4(NLRP3):c.-68G>A rs202076321
NM_004895.4(NLRP3):c.-704C>T rs199723383
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.1050G>A (p.Thr350=) rs143140947
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.1125G>A (p.Glu375=) rs138613962
NM_004895.4(NLRP3):c.1219A>C (p.Thr407Pro) rs180177445
NM_004895.4(NLRP3):c.1251C>T (p.Ile417=) rs139852370
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>T (p.Thr438Ile) rs180177433
NM_004895.4(NLRP3):c.1322C>T (p.Ala441Val) rs121908146
NM_004895.4(NLRP3):c.1367G>A (p.Gly456Glu) rs199696688
NM_004895.4(NLRP3):c.1380C>T (p.His460=) rs180177481
NM_004895.4(NLRP3):c.1395C>T (p.His465=) rs111400208
NM_004895.4(NLRP3):c.1446C>A (p.Ile482=) rs756162800
NM_004895.4(NLRP3):c.1469G>A (p.Arg490Lys) rs145268073
NM_004895.4(NLRP3):c.1579G>A (p.Glu527Lys) rs180177458
NM_004895.4(NLRP3):c.1590C>T (p.Ala530=) rs201644343
NM_004895.4(NLRP3):c.1606C>T (p.Leu536=) rs116054301
NM_004895.4(NLRP3):c.1651T>C (p.Leu551=) rs144469697
NM_004895.4(NLRP3):c.1675A>G (p.Thr559Ala) rs180177461
NM_004895.4(NLRP3):c.1705G>A (p.Glu569Lys) rs104895389
NM_004895.4(NLRP3):c.1719G>T (p.Leu573Phe) rs180177489
NM_004895.4(NLRP3):c.200C>G (p.Ala67Gly) rs763252989
NM_004895.4(NLRP3):c.209T>C (p.Met70Thr) rs147559626
NM_004895.4(NLRP3):c.2124C>T (p.Leu708=) rs149493236
NM_004895.4(NLRP3):c.214G>A (p.Val72Met) rs117287351
NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) rs147946775
NM_004895.4(NLRP3):c.2191C>A (p.Arg731=) rs148590318
NM_004895.4(NLRP3):c.2220C>T (p.Ser740=) rs183128734
NM_004895.4(NLRP3):c.2307C>G (p.Gly769=) rs150229101
NM_004895.4(NLRP3):c.2430C>T (p.Leu810=) rs147154764
NM_004895.4(NLRP3):c.2431G>A (p.Gly811Ser) rs141389711
NM_004895.4(NLRP3):c.2511C>T (p.Cys837=) rs1351993448
NM_004895.4(NLRP3):c.2582A>G (p.Tyr861Cys) rs180177452
NM_004895.4(NLRP3):c.2638A>G (p.Lys880Glu) rs1057515488
NM_004895.4(NLRP3):c.2767A>G (p.Thr923Ala) rs200089542
NM_004895.4(NLRP3):c.283+11G>A rs577522959
NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met) rs139814109
NM_004895.4(NLRP3):c.3043A>G (p.Lys1015Glu) rs771315000
NM_004895.4(NLRP3):c.3048T>C (p.Ser1016=) rs1057515489
NM_004895.4(NLRP3):c.34A>C (p.Arg12=) rs1057515531
NM_004895.4(NLRP3):c.403+7G>A rs192297357
NM_004895.4(NLRP3):c.404-5C>T rs200459664
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.749A>G (p.Gln250Arg) rs876660971
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.913G>A (p.Asp305Asn) rs121908153
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.926G>T (p.Gly309Val) rs180177468
NM_004895.4(NLRP3):c.936C>T (p.Asp312=) rs143840033
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.983G>A (p.Gly328Glu) rs180177456

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