ClinVar Miner

List of variants studied for Proteasome-associated autoinflammatory syndrome 5

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002801.4(PSMB10):c.247dup (p.Cys83fs)
NM_002801.4(PSMB10):c.40_42del (p.Phe14del)
NM_002801.4(PSMB10):c.41T>C (p.Phe14Ser) rs2058265858
NM_002801.4(PSMB10):c.500G>A (p.Gly167Asp)
NM_002801.4(PSMB10):c.629G>A (p.Gly210Asp)
NM_002801.4(PSMB10):c.710+1G>C
NM_002801.4(PSMB10):c.736G>A (p.Gly246Arg)

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