ClinVar Miner

List of variants reported as uncertain significance for Familial cold autoinflammatory syndrome 2 by Undiagnosed Diseases Network, NIH

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_144687.4(NLRP12):c.35G>A (p.Arg12His)	rs376754003	0.00003
NM_016339.6(RAPGEFL1):c.1264C>T (p.Arg422Ter)
NM_144687.4(NLRP12):c.1504_1506del (p.Lys502del)	rs1403147116

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