ClinVar Miner

List of variants in gene PSMB8 reported as benign for proteosome-associated autoinflammatory syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys) rs2071543 0.12521
NM_148919.4(PSMB8):c.129T>C (p.Ala43=) rs2071542 0.04233
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_148919.4(PSMB8):c.148-18C>T rs147016287 0.00780
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser) rs17220206 0.00770
NM_148919.4(PSMB8):c.222C>A (p.Thr74=) rs116638337 0.00770
NM_148919.4(PSMB8):c.*24G>T rs115441230 0.00724
NM_148919.4(PSMB8):c.483G>A (p.Gln161=) rs41270492 0.00378
NM_148919.4(PSMB8):c.*140G>A rs115433903 0.00327
NM_148919.4(PSMB8):c.501C>T (p.Leu167=) rs11540143 0.00224
NM_148919.4(PSMB8):c.732C>T (p.Gly244=) rs78909544 0.00175
NM_148919.4(PSMB8):c.192C>T (p.Asn64=) rs79482999 0.00173

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