ClinVar Miner

List of variants reported as likely pathogenic for Familial cold autoinflammatory syndrome 2 by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_144687.4(NLRP12):c.2879T>A (p.Leu960Ter)	rs745881796	0.00002
NM_144687.4(NLRP12):c.2360dup (p.Met787fs)	rs768447330	0.00001
NM_144687.4(NLRP12):c.46dup (p.Tyr16fs)	rs1599879570

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