ClinVar Miner

List of variants in gene NLRP3 studied for Familial cold urticaria

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Total variants: 99
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HGVS dbSNP
NM_001243133.1(NLRP3):c.1032G>A (p.Leu344=) rs180177471
NM_001243133.1(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
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.1055C>T (p.Ala352Val) rs121908149
NM_001243133.1(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
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.1213A>C (p.Thr405Pro) rs180177445
NM_001243133.1(NLRP3):c.1218G>C (p.Met406Ile) rs180177486
NM_001243133.1(NLRP3):c.1231C>T (p.Leu411=) rs148478875
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.1306A>G (p.Thr436Ala) rs180177465
NM_001243133.1(NLRP3):c.1306_1308del (p.Thr438del) rs180177492
NM_001243133.1(NLRP3):c.1307C>A (p.Thr436Asn) rs180177433
NM_001243133.1(NLRP3):c.1307C>T (p.Thr436Ile) 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.1316C>T (p.Ala439Val) rs121908146
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.1374C>T (p.His458=) rs180177481
NM_001243133.1(NLRP3):c.1383C>T (p.Cys461=) rs104895398
NM_001243133.1(NLRP3):c.1389C>T (p.His463=) rs111400208
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.1463G>A (p.Arg488Lys) rs145268073
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.1573G>A (p.Glu525Lys) rs180177458
NM_001243133.1(NLRP3):c.1600C>T (p.Leu534=) rs116054301
NM_001243133.1(NLRP3):c.1660C>T (p.Arg554Ter) rs180177460
NM_001243133.1(NLRP3):c.1669A>G (p.Thr557Ala) rs180177461
NM_001243133.1(NLRP3):c.1687T>A (p.Tyr563Asn) rs180177479
NM_001243133.1(NLRP3):c.1699G>A (p.Glu567Lys) rs104895389
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.1713G>T (p.Leu571Phe) rs180177489
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.2576A>G (p.Tyr859Cys) rs180177452
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.587G>A (p.Ser196Asn) rs180177459
NM_001243133.1(NLRP3):c.592G>A (p.Val198Met) rs121908147
NM_001243133.1(NLRP3):c.674C>T (p.Ala225Val) rs180177493
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.778C>T (p.Arg260Trp) rs121908150
NM_001243133.1(NLRP3):c.779G>C (p.Arg260Pro) rs180177442
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>A (p.Asp303Asn) rs121908153
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.910G>A (p.Glu304Lys) rs180177484
NM_001243133.1(NLRP3):c.914T>C (p.Leu305Pro) rs180177431
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.920G>T (p.Gly307Val) rs180177468
NM_001243133.1(NLRP3):c.926T>C (p.Phe309Ser) rs121908154
NM_001243133.1(NLRP3):c.930C>T (p.Asp310=) rs143840033
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.937A>G (p.Ile313Val) rs180177501
NM_001243133.1(NLRP3):c.944C>T (p.Pro315Leu) rs180177462
NM_001243133.1(NLRP3):c.973C>T (p.Arg325Trp) rs180177500
NM_001243133.1(NLRP3):c.977G>A (p.Gly326Glu) rs180177456
NM_001243133.1(NLRP3):c.993C>A (p.Ser331Arg) rs180177451
NM_004895.3:c.3006-45_3006-44del
NM_004895.4(NLRP3):c.1000A>G (p.Ser334Gly) rs672601258
NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) rs147946775

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