ClinVar Miner

List of variants in gene NLRP3 reported as uncertain significance for Familial amyloid nephropathy with urticaria AND deafness

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.247448882A>C
NC_000001.11:g.247448935G>A
NM_001243133.2(NLRP3):c.*139T>G
NM_001243133.2(NLRP3):c.*2A>G
NM_001243133.2(NLRP3):c.-219G>A
NM_001243133.2(NLRP3):c.-339C>T
NM_001243133.2(NLRP3):c.-369G>A
NM_001243133.2(NLRP3):c.-407C>T
NM_001243133.2(NLRP3):c.-523G>A
NM_001243133.2(NLRP3):c.-686C>T
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)
NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=)
NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu)
NM_001243133.2(NLRP3):c.234G>A (p.Arg78=)
NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly)
NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser)
NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu)
NM_004895.4(NLRP3):c.*324_*327del rs886506882
NM_004895.4(NLRP3):c.*328_*331del rs1057515460
NM_004895.4(NLRP3):c.*604A>C rs1057515532
NM_004895.4(NLRP3):c.-116T>C rs202234129
NM_004895.4(NLRP3):c.-197G>A rs1042817230
NM_004895.4(NLRP3):c.-454G>A rs199475727
NM_004895.4(NLRP3):c.-476dup rs144128307
NM_004895.4(NLRP3):c.-527C>G rs141994679
NM_004895.4(NLRP3):c.-623C>T rs200090360
NM_004895.4(NLRP3):c.-62C>T rs201758466
NM_004895.4(NLRP3):c.-679G>A rs768557674
NM_004895.4(NLRP3):c.-68G>A rs202076321
NM_004895.4(NLRP3):c.-704C>T rs199723383
NM_004895.4(NLRP3):c.2511C>T (p.Cys837=) rs1351993448
NM_004895.4(NLRP3):c.2638A>G (p.Lys880Glu) rs1057515488
NM_004895.4(NLRP3):c.2767A>G (p.Thr923Ala) rs200089542
NM_004895.4(NLRP3):c.3043A>G (p.Lys1015Glu) rs771315000
NM_004895.4(NLRP3):c.3048T>C (p.Ser1016=) rs1057515489
NM_004895.4(NLRP3):c.34A>C (p.Arg12=) rs1057515531
NM_004895.4(NLRP3):c.749A>G (p.Gln250Arg) rs876660971

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.