List of variants reported as pathogenic for Familial cold autoinflammatory syndrome 2

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)	rs104895564	0.00044
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys)	rs199881207	0.00019
NM_144687.4(NLRP12):c.1113_1116del (p.Lys371fs)	rs1599842537
NM_144687.4(NLRP12):c.1223G>A (p.Trp408Ter)	rs774895361
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter)	rs781361326
NM_144687.4(NLRP12):c.2072+2dup	rs104895565
NM_144687.4(NLRP12):c.2574_2585+13del	rs1302931500
NM_144687.4(NLRP12):c.2791G>T (p.Glu931Ter)	rs1404302953
NM_144687.4(NLRP12):c.882C>G (p.Asp294Glu)	rs147080557

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