ClinVar Miner

List of variants studied for Muckle-Wells syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
Download table as spreadsheet
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 0.00230
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.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.-74G>A rs202076321 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.