ClinVar Miner

List of variants studied for Proteasome-associated autoinflammatory syndrome 1 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) rs368551668

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