List of variants reported as pathogenic for proteasome-associated autoinflammatory syndrome 1 by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met)	rs748082671	0.00006
NM_002788.4(PSMA3):c.404+2T>C	rs1555352516
NM_002788.4(PSMA3):c.697_699del (p.Arg233del)	rs1555353410
NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter)	rs1553209373
NM_148919.4(PSMB8):c.163C>T (p.Gln55Ter)
NM_148919.4(PSMB8):c.313A>C (p.Lys105Gln)	rs1554239543
NM_148919.4(PSMB8):c.352T>C (p.Ser118Pro)
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter)	rs146254972
NM_148919.4(PSMB8):c.602G>T (p.Gly201Val)	rs387906680

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