ClinVar Miner

List of variants reported as pathogenic for Proteasome-associated autoinflammatory syndrome 2

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015932.6(POMP):c.334_335del (p.Ile112fs)	rs1555257073
NM_015932.6(POMP):c.340_344dup (p.Glu115fs)	rs1555257075
NM_015932.6(POMP):c.342_348delinsACC (p.Phe114fs)	rs1555257076

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