ClinVar Miner

List of variants in gene NLRP3 reported by GeneDx

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Gene type:
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Total variants: 94
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HGVS dbSNP
NM_001079821.2(NLRP3):c.494A>G (p.Asn165Ser) rs199475733
NM_001243133.1(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.1(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001243133.1(NLRP3):c.1213A>C (p.Thr405Pro) rs180177445
NM_001243133.1(NLRP3):c.1306A>G (p.Thr436Ala) rs180177465
NM_001243133.1(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.1(NLRP3):c.1374C>T (p.His458=) rs180177481
NM_001243133.1(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073
NM_001243133.1(NLRP3):c.2576A>G (p.Tyr859Cys) rs180177452
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.778C>T (p.Arg260Trp) rs121908150
NM_001243133.1(NLRP3):c.907G>A (p.Asp303Asn) rs121908153
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.937A>G (p.Ile313Val) rs180177501
NM_001243133.1(NLRP3):c.944C>T (p.Pro315Leu) rs180177462
NM_004895.4(NLRP3):c.1027G>A (p.Glu343Lys) rs369910640
NM_004895.4(NLRP3):c.1050G>A (p.Thr350=) rs143140947
NM_004895.4(NLRP3):c.1070A>G (p.Lys357Arg) rs876660972
NM_004895.4(NLRP3):c.1071A>C (p.Lys357Asn) rs1131691298
NM_004895.4(NLRP3):c.1108A>C (p.Ile370Leu) rs200735245
NM_004895.4(NLRP3):c.1122C>T (p.Ser374=) rs374056197
NM_004895.4(NLRP3):c.1303A>G (p.Thr435Ala) rs876661016
NM_004895.4(NLRP3):c.1323G>A (p.Ala441=) rs201976178
NM_004895.4(NLRP3):c.1329C>T (p.Tyr443=) rs200269703
NM_004895.4(NLRP3):c.1339C>T (p.Leu447Phe) rs202121800
NM_004895.4(NLRP3):c.1407C>T (p.Leu469=) rs141637807
NM_004895.4(NLRP3):c.152A>G (p.His51Arg) rs367663649
NM_004895.4(NLRP3):c.1590C>T (p.Ala530=) rs201644343
NM_004895.4(NLRP3):c.1631C>T (p.Thr544Met) rs199856287
NM_004895.4(NLRP3):c.1711G>A (p.Gly571Arg) rs121908151
NM_004895.4(NLRP3):c.1789A>G (p.Ser597Gly) rs1553287287
NM_004895.4(NLRP3):c.178G>A (p.Asp60Asn) rs1131691891
NM_004895.4(NLRP3):c.1806G>A (p.Gln602=) rs1018524884
NM_004895.4(NLRP3):c.1845A>T (p.Lys615Asn) rs876660973
NM_004895.4(NLRP3):c.1926C>T (p.Phe642=) rs34698071
NM_004895.4(NLRP3):c.1942G>T (p.Asp648Tyr) rs138061418
NM_004895.4(NLRP3):c.200C>G (p.Ala67Gly) rs763252989
NM_004895.4(NLRP3):c.201G>A (p.Ala67=) rs201205620
NM_004895.4(NLRP3):c.2124C>T (p.Leu708=) rs149493236
NM_004895.4(NLRP3):c.2138A>T (p.His713Leu) rs767805817
NM_004895.4(NLRP3):c.213C>T (p.Ala71=) rs200082602
NM_004895.4(NLRP3):c.214G>A (p.Val72Met) rs117287351
NM_004895.4(NLRP3):c.2157-11C>T rs201019209
NM_004895.4(NLRP3):c.2157-16T>A rs1057524463
NM_004895.4(NLRP3):c.2157-7T>C rs116546330
NM_004895.4(NLRP3):c.2178T>A (p.Thr726=) rs201102829
NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) rs147946775
NM_004895.4(NLRP3):c.2305G>A (p.Gly769Ser) rs866534904
NM_004895.4(NLRP3):c.230C>A (p.Ala77Glu) rs200288250
NM_004895.4(NLRP3):c.230C>T (p.Ala77Val) rs200288250
NM_004895.4(NLRP3):c.2327+11G>A rs371752834
NM_004895.4(NLRP3):c.2328-6A>G rs778792605
NM_004895.4(NLRP3):c.2383A>G (p.Ser795Gly) rs1064797023
NM_004895.4(NLRP3):c.2398C>A (p.Leu800Met) rs756392002
NM_004895.4(NLRP3):c.2431G>A (p.Gly811Ser) rs141389711
NM_004895.4(NLRP3):c.2463A>T (p.Gly821=) rs202034848
NM_004895.4(NLRP3):c.2494C>A (p.Leu832Ile) rs114158404
NM_004895.4(NLRP3):c.2498+13C>T rs199746830
NM_004895.4(NLRP3):c.2498+8G>A rs201453934
NM_004895.4(NLRP3):c.2499-8T>A rs199858933
NM_004895.4(NLRP3):c.2542G>C (p.Ala848Pro) rs773376112
NM_004895.4(NLRP3):c.255G>A (p.Glu85=) rs375070491
NM_004895.4(NLRP3):c.2617G>A (p.Ala873Thr) rs201867582
NM_004895.4(NLRP3):c.2744C>T (p.Thr915Met) rs765925466
NM_004895.4(NLRP3):c.2767A>G (p.Thr923Ala) rs200089542
NM_004895.4(NLRP3):c.2790A>C (p.Lys930Asn) rs876660975
NM_004895.4(NLRP3):c.283+11G>A rs577522959
NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met) rs139814109
NM_004895.4(NLRP3):c.2895_2902delGACCTCCAinsTTCCACACTTTC (p.Thr966Serfs) rs1553293315
NM_004895.4(NLRP3):c.2969G>C (p.Cys990Ser) rs876660974
NM_004895.4(NLRP3):c.298C>T (p.Arg100Cys) rs375013904
NM_004895.4(NLRP3):c.2993G>C (p.Cys998Ser) rs199517145
NM_004895.4(NLRP3):c.3043A>G (p.Lys1015Glu) rs771315000
NM_004895.4(NLRP3):c.306G>A (p.Ser102=) rs149161277
NM_004895.4(NLRP3):c.315T>C (p.Thr105=) rs199822721
NM_004895.4(NLRP3):c.342A>G (p.Glu114=) rs1064796501
NM_004895.4(NLRP3):c.375G>A (p.Ser125=) rs750104265
NM_004895.4(NLRP3):c.392A>G (p.Lys131Arg) rs188623199
NM_004895.4(NLRP3):c.410G>A (p.Arg137His) rs138946894
NM_004895.4(NLRP3):c.531C>T (p.His177=) rs376196301
NM_004895.4(NLRP3):c.576G>A (p.Lys192=) rs1553286256
NM_004895.4(NLRP3):c.584C>T (p.Thr195Met) rs76291085
NM_004895.4(NLRP3):c.624G>A (p.Leu208=) rs201463849
NM_004895.4(NLRP3):c.634G>A (p.Asp212Asn) rs372038150
NM_004895.4(NLRP3):c.644A>G (p.His215Arg) rs150396172
NM_004895.4(NLRP3):c.749A>G (p.Gln250Arg) rs876660971
NM_004895.4(NLRP3):c.766C>A (p.Leu256Met) rs1553286385
NM_004895.4(NLRP3):c.786G>A (p.Arg262=) rs4925543
NM_004895.4(NLRP3):c.795C>T (p.Ser265=) rs146442638
NM_004895.4(NLRP3):c.82C>T (p.His28Tyr) rs763551829
NM_004895.4(NLRP3):c.912C>T (p.Phe304=) rs756989752
NM_004895.4(NLRP3):c.925G>C (p.Gly309Arg) rs1057524777

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