ClinVar Miner

List of variants in gene NLRP3 reported as likely benign for Muckle-Wells syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.2151-7T>C rs116546330 0.00084
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.1245C>T (p.Ile415=) rs139852370 0.00045
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.1401C>T (p.Leu467=) rs141637807 0.00029
NM_001243133.2(NLRP3):c.2703T>G (p.Ala901=) rs138089800 0.00020
NM_001243133.2(NLRP3):c.1623G>A (p.Arg541=) rs756547568 0.00014
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=) rs151097783 0.00007
NM_001243133.2(NLRP3):c.277+11G>A rs577522959 0.00007
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 0.00006
NM_001243133.2(NLRP3):c.2150+16T>C rs368389907 0.00006
NM_001243133.2(NLRP3):c.2709C>G (p.Ser903=) rs145787821 0.00006
NM_001243133.2(NLRP3):c.309T>C (p.Thr103=) rs199822721 0.00005
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile) rs374170024 0.00004
NM_001243133.2(NLRP3):c.147T>C (p.His49=) rs199687987 0.00003
NM_001243133.2(NLRP3):c.2321+11G>A rs371752834 0.00003
NM_001243133.2(NLRP3):c.219C>T (p.Phe73=) rs201980166 0.00002
NM_001243133.2(NLRP3):c.2856G>A (p.Thr952=) rs200474558 0.00002
NM_001243133.2(NLRP3):c.2058C>T (p.Pro686=) rs765198709 0.00001
NM_001243133.2(NLRP3):c.2492+13C>T rs199746830 0.00001
NM_001243133.2(NLRP3):c.369G>A (p.Ser123=) rs750104265 0.00001
NM_001243133.2(NLRP3):c.1374C>T (p.His458=) rs180177481
NM_001243133.2(NLRP3):c.195G>A (p.Ala65=) rs201205620
NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=) rs201102829
NM_001243133.2(NLRP3):c.726G>T (p.Ala242=) rs3806268

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