List of variants studied for Familial cold autoinflammatory syndrome 2 by Revvity Omics, Revvity

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_144687.4(NLRP12):c.1854C>G (p.Tyr618Ter)	rs142487599	0.00013
NM_144687.4(NLRP12):c.1349C>T (p.Pro450Leu)	rs143640165	0.00009
NM_144687.4(NLRP12):c.2879T>A (p.Leu960Ter)	rs745881796	0.00002
NM_144687.4(NLRP12):c.830C>T (p.Ala277Val)	rs1170408810	0.00002
NM_144687.4(NLRP12):c.1568C>G (p.Ala523Gly)	rs1036210460	0.00001
NM_144687.4(NLRP12):c.2360dup (p.Met787fs)	rs768447330	0.00001
NM_144687.4(NLRP12):c.2028C>A (p.Asp676Glu)
NM_144687.4(NLRP12):c.2520_2522delinsAGT (p.Asp841Val)
NM_144687.4(NLRP12):c.46dup (p.Tyr16fs)	rs1599879570
NM_144687.4(NLRP12):c.725G>A (p.Gly242Asp)	rs2122678718
NM_144687.4(NLRP12):c.838C>T (p.Gln280Ter)	rs145049569

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