List of variants in gene NLRP3 reported as uncertain significance for Chronic infantile neurological, cutaneous and articular syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 40

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HGVS	dbSNP	gnomAD frequency
NM_001243133.2(NLRP3):c.-460G>A	rs199475727	0.00046
NM_001243133.2(NLRP3):c.-710C>T	rs199723383	0.00038
NM_001243133.2(NLRP3):c.-686C>T	rs201896158	0.00026
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.-407C>T	rs12741165	0.00006
NM_001243133.2(NLRP3):c.-122T>C	rs202234129	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.1625C>T (p.Thr542Met)	rs199856287	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.-339C>T	rs201966092	0.00003
NM_001243133.2(NLRP3):c.3037A>G (p.Lys1013Glu)	rs771315000	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.-685G>A	rs768557674	0.00001
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)	rs201384608	0.00001
NM_001243133.2(NLRP3):c.1937A>G (p.Asp646Gly)	rs1342790456	0.00001
NM_001243133.2(NLRP3):c.234G>A (p.Arg78=)	rs202232879	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.*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.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.2784A>C (p.Lys928Asn)	rs876660975
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.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.*378A>C	rs1664772078

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