ClinVar Miner

List of variants studied for Immunodeficiency 121 with autoinflammation

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002801.4(PSMB10):c.166G>C (p.Asp56His) rs2544399189
NM_002801.4(PSMB10):c.601G>A (p.Gly201Arg) rs1333515119
NM_002801.4(PSMB10):c.601G>C (p.Gly201Arg) rs1333515119

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