ClinVar Miner

List of variants in gene NLRP3 reported as pathogenic for Familial cold urticaria

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Total variants: 5
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HGVS dbSNP
NM_001243133.1(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001243133.1(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.1(NLRP3):c.1880A>G (p.Glu627Gly) rs121908148
NM_001243133.1(NLRP3):c.592G>A (p.Val198Met) rs121908147
NM_001243133.1(NLRP3):c.778C>T (p.Arg260Trp) rs121908150

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