ClinVar Miner

List of variants reported as pathogenic for Familial cold autoinflammatory syndrome 2 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_144687.4(NLRP12):c.1113_1116del (p.Lys371fs)	rs1599842537
NM_144687.4(NLRP12):c.2574_2585+13del	rs1302931500
NM_144687.4(NLRP12):c.2791G>T (p.Glu931Ter)	rs1404302953

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