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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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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.352T>C (p.Ser118Pro)	rs1359687163	0.00001
NM_148919.4(PSMB8):c.421C>T (p.Arg141Ter)	rs374929612	0.00001
NM_148919.4(PSMB8):c.163C>T (p.Gln55Ter)	rs895985294
NM_148919.4(PSMB8):c.313A>C (p.Lys105Gln)	rs1554239543
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter)	rs146254972
NM_148919.4(PSMB8):c.602G>T (p.Gly201Val)	rs387906680

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