ClinVar Miner

List of variants in gene NLRP3 studied for Inborn genetic diseases

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) rs138946894 0.00029
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln) rs200378519 0.00009
NM_001243133.2(NLRP3):c.1643G>A (p.Arg548His) rs200258061 0.00001
NM_001243133.2(NLRP3):c.1093C>T (p.His365Tyr)
NM_001243133.2(NLRP3):c.109A>C (p.Ile37Leu)
NM_001243133.2(NLRP3):c.1246G>A (p.Val416Met)
NM_001243133.2(NLRP3):c.1478A>G (p.Gln493Arg) rs768582957
NM_001243133.2(NLRP3):c.14G>A (p.Arg5His)
NM_001243133.2(NLRP3):c.1630G>A (p.Val544Ile)
NM_001243133.2(NLRP3):c.1645T>G (p.Leu549Val)
NM_001243133.2(NLRP3):c.171C>G (p.Ile57Met) rs773673175
NM_001243133.2(NLRP3):c.1952T>C (p.Ile651Thr)
NM_001243133.2(NLRP3):c.2150+1del
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val) rs200288250
NM_001243133.2(NLRP3):c.360G>C (p.Glu120Asp)
NM_001243133.2(NLRP3):c.411G>T (p.Lys137Asn) rs1572167035
NM_001243133.2(NLRP3):c.424G>A (p.Val142Met)
NM_001243133.2(NLRP3):c.724G>A (p.Ala242Thr)
NM_001243133.2(NLRP3):c.725C>A (p.Ala242Glu)
NM_001243133.2(NLRP3):c.985C>G (p.Leu329Val)

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