ClinVar Miner

List of variants studied for Familial cold autoinflammatory syndrome 2 by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.-12C>T rs4539722 0.44990
NM_144687.4(NLRP12):c.2755C>T (p.Arg919Trp) rs61741349 0.00716
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570

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