ClinVar Miner

List of variants reported as likely benign for Familial cold autoinflammatory syndrome 2 by Illumina Laboratory Services, Illumina

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) rs35064500 0.00470
NM_144687.4(NLRP12):c.2757-8C>G rs370391218 0.00025
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) rs377594629 0.00021
NM_144687.4(NLRP12):c.2748G>A (p.Gln916=) rs368633277 0.00013
NM_144687.4(NLRP12):c.2761G>C (p.Gly921Arg) rs199980950 0.00011
NM_144687.4(NLRP12):c.986G>A (p.Arg329Gln) rs144287432 0.00010
NM_144687.4(NLRP12):c.1349C>T (p.Pro450Leu) rs143640165 0.00009
NM_144687.4(NLRP12):c.2831G>A (p.Arg944Gln) rs200742741 0.00009
NM_144687.4(NLRP12):c.2120C>T (p.Ala707Val) rs202169378 0.00002
NM_144687.4(NLRP12):c.2499C>A (p.Asp833Glu) rs139956424 0.00002
NM_144687.4(NLRP12):c.2792A>G (p.Glu931Gly) rs566677129 0.00002
NM_144687.4(NLRP12):c.538G>A (p.Gly180Ser) rs563974183 0.00002
NM_144687.4(NLRP12):c.1461C>T (p.Asp487=) rs555808644
NM_144687.4(NLRP12):c.2182C>T (p.Arg728Trp) rs764354581
NM_144687.4(NLRP12):c.616C>T (p.Arg206Cys) rs111754022

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