ClinVar Miner

List of variants studied for Familial cold autoinflammatory syndrome 2 by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.2394G>A (p.Gln798=) rs4806773 0.85135
NM_144687.4(NLRP12):c.-12C>T rs4539722 0.44990
NM_144687.4(NLRP12):c.2469C>T (p.Leu823=) rs12460528

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