ClinVar Miner

List of variants studied for Proteasome-associated autoinflammatory syndrome 3

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002796.3(PSMB4):c.495-40T>C rs2495391 0.97364
NM_002796.3(PSMB4):c.75G>A (p.Pro25=) rs7172 0.64309
NM_002796.3(PSMB4):c.701T>C (p.Ile234Thr) rs4603 0.15159
NM_002796.3(PSMB4):c.-9G>A rs200946642 0.00112
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp) rs369359789 0.00022
NM_002796.3(PSMB4):c.44dup (p.Pro16fs) rs1235715459
NM_002796.3(PSMB4):c.472G>A (p.Gly158Arg) rs777632466
NM_002796.3(PSMB4):c.636_644del (p.Asp212_Val214del) rs1553209362
NM_002800.5(PSMB9):c.179G>A (p.Arg60His) rs17587

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