ClinVar Miner

List of variants studied for proteosome-associated autoinflammatory syndrome by Genome-Nilou Lab

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_002796.3(PSMB4):c.701T>C (p.Ile234Thr) rs4603 0.15159
NM_002800.5(PSMB9):c.179G>A (p.Arg60His) rs17587

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