ClinVar Miner

List of variants reported for Familial cold autoinflammatory syndrome 2 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) rs377594629 0.00021
NM_144687.4(NLRP12):c.1754C>T (p.Pro585Leu) rs569411184 0.00002
NM_144687.4(NLRP12):c.2056_2057dup (p.Leu687fs)

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