ClinVar Miner

List of variants studied for proteosome-associated autoinflammatory syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015932.6(POMP):c.101+9G>A rs116855705 0.00248
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) rs55853041 0.00071
NM_015932.6(POMP):c.91C>T (p.Leu31Phe) rs138472024 0.00026
NM_002800.5(PSMB9):c.10G>A (p.Ala4Thr)

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