ClinVar Miner

List of variants in gene PSMB8 reported as likely pathogenic for Proteasome-associated autoinflammatory syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004159.5(PSMB8):c.107_108del (p.Pro36fs)	rs763314828	0.00011
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter)	rs146254972

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