ClinVar Miner

List of variants reported as pathogenic for PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC

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Total variants: 3

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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

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