List of variants in gene PSMB8 reported as pathogenic for Proteosome-associated autoinflammatory syndrome

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)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met)	rs748082671	0.00006
NM_148919.4(PSMB8):c.108_118del (p.Met37fs)	rs2483096056
NM_148919.4(PSMB8):c.21C>A (p.Cys7Ter)
NM_148919.4(PSMB8):c.227_230dup (p.Phe78fs)	rs1582609458
NM_148919.4(PSMB8):c.31C>T (p.Arg11Ter)
NM_148919.4(PSMB8):c.31dup (p.Arg11fs)	rs775701157
NM_148919.4(PSMB8):c.337del (p.Leu113fs)
NM_148919.4(PSMB8):c.383del (p.Glu128fs)	rs2483087076
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter)	rs146254972
NM_148919.4(PSMB8):c.434del (p.Arg145fs)
NM_148919.4(PSMB8):c.481C>T (p.Gln161Ter)	rs2127377117
NM_148919.4(PSMB8):c.50C>A (p.Ser17Ter)	rs1312431639
NM_148919.4(PSMB8):c.608_611dup (p.Asn204fs)	rs1769913209
NM_148919.4(PSMB8):c.636_643del (p.Asp212fs)

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