ClinVar Miner

List of variants studied for Chronic infantile neurological, cutaneous and articular syndrome by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.-411T>C rs7523422 0.99765
NM_001243133.2(NLRP3):c.*230G>C rs10754558 0.63911
NM_004895.4(NLRP3):c.*489C>T rs10802502 0.54558
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.-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 0.00248
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.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.-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.-74G>A rs202076321 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.1584C>T (p.Ala528=) rs201644343 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.-685G>A rs768557674 0.00001
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys) rs201384608 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.*177del rs796764638
NM_001243133.2(NLRP3):c.*2A>G rs1664748029
NM_001243133.2(NLRP3):c.-482dup rs144128307
NM_001243133.2(NLRP3):c.-523G>A rs1662192950
NM_001243133.2(NLRP3):c.-533C>G rs141994679
NM_001243133.2(NLRP3):c.1374C>T (p.His458=) rs180177481
NM_001243133.2(NLRP3):c.1440C>A (p.Ile480=) rs756162800
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.2505C>T (p.Cys835=) rs1351993448
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.565G>A (p.Gly189Ser) rs201877163
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.964A>G (p.Lys322Glu) rs1662708025
NM_004895.4(NLRP3):c.*324_*327delGTCT rs886506882
NM_004895.4(NLRP3):c.*328_*331delAACT rs1057515460
NM_004895.4(NLRP3):c.*351dup rs397821684
NM_004895.4(NLRP3):c.*378A>C rs1664772078

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