ClinVar Miner

List of variants in gene NLRP3 reported as likely pathogenic by Invitae

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.1000A>G (p.Ile334Val) rs1662713003
NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr) rs180177503
NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val) rs121908149
NM_001243133.2(NLRP3):c.1218G>A (p.Met406Ile) rs180177486
NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys) rs180177458
NM_001243133.2(NLRP3):c.1700A>C (p.Glu567Ala) rs2103112233
NM_001243133.2(NLRP3):c.1706G>A (p.Gly569Glu)
NM_001243133.2(NLRP3):c.1976T>G (p.Met659Arg) rs180177457
NM_001243133.2(NLRP3):c.2264G>C (p.Gly755Ala) rs180177473
NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr) rs180177449

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