ClinVar Miner

List of variants in gene NLRP3 reported as likely benign for Cryopyrin associated periodic syndrome

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Total variants: 11
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HGVS dbSNP
NM_004895.4(NLRP3):c.1407C>T (p.Leu469=) rs141637807
NM_004895.4(NLRP3):c.1469G>A (p.Arg490Lys) rs145268073
NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys) rs139833874
NM_004895.4(NLRP3):c.2154T>C (p.His718=) rs199592175
NM_004895.4(NLRP3):c.225C>T (p.Phe75=) rs201980166
NM_004895.4(NLRP3):c.2494C>A (p.Leu832Ile) rs114158404
NM_004895.4(NLRP3):c.2709T>G (p.Ala903=) rs138089800
NM_004895.4(NLRP3):c.585G>A (p.Thr195=) rs149659331
NM_004895.4(NLRP3):c.624G>T (p.Leu208=) rs201463849
NM_004895.4(NLRP3):c.680C>T (p.Ala227Val) rs180177493
NM_004895.4(NLRP3):c.906C>T (p.Asp302=) rs145826369

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