ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) rs55853041 0.00071
NM_148919.4(PSMB8):c.433C>T (p.Arg145Cys) rs116076690 0.00042
NM_148919.4(PSMB8):c.804G>A (p.Leu268=) rs371969268 0.00014
NM_148919.4(PSMB8):c.295+12C>T rs375825728 0.00009
NM_148919.4(PSMB8):c.18A>C (p.Val6=) rs1445689887 0.00005
NM_148919.4(PSMB8):c.384G>A (p.Glu128=) rs547664445 0.00004
NM_148919.4(PSMB8):c.21C>T (p.Cys7=) rs749425717 0.00003
NM_148919.4(PSMB8):c.342T>C (p.Leu114=) rs975292324 0.00003
NM_148919.4(PSMB8):c.447G>A (p.Ser149=) rs561471558 0.00003
NM_148919.4(PSMB8):c.537+8C>T rs767292865 0.00003
NM_148919.4(PSMB8):c.762T>C (p.Asp254=) rs369525405 0.00002
NM_148919.4(PSMB8):c.135C>T (p.Pro45=) rs1313330961 0.00001
NM_148919.4(PSMB8):c.147+19C>T rs749886120 0.00001
NM_148919.4(PSMB8):c.148-13T>C rs1770037042 0.00001
NM_148919.4(PSMB8):c.148-17C>G rs1770037473 0.00001
NM_148919.4(PSMB8):c.162C>T (p.Phe54=) rs950306671 0.00001
NM_148919.4(PSMB8):c.180C>T (p.Asp60=) rs757858465 0.00001
NM_148919.4(PSMB8):c.228C>T (p.Leu76=) rs1239428185 0.00001
NM_148919.4(PSMB8):c.296-15T>C rs1224334453 0.00001
NM_148919.4(PSMB8):c.315G>A (p.Lys105=) rs747690980 0.00001
NM_148919.4(PSMB8):c.393G>A (p.Leu131=) rs1769991379 0.00001
NM_148919.4(PSMB8):c.407+7G>A rs1020393626 0.00001
NM_148919.4(PSMB8):c.408-17A>G rs757476844 0.00001
NM_148919.4(PSMB8):c.492C>T (p.Gly164=) rs369474146 0.00001
NM_148919.4(PSMB8):c.538-10C>T rs923980627 0.00001
NM_148919.4(PSMB8):c.538-8T>C rs183970725 0.00001
NM_148919.4(PSMB8):c.561T>C (p.Asp187=) rs753281221 0.00001
NM_148919.4(PSMB8):c.567T>C (p.His189=) rs762559160 0.00001
NM_148919.4(PSMB8):c.624C>T (p.Tyr208=) rs200137729 0.00001
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) rs547653681 0.00001
NM_148919.4(PSMB8):c.735T>C (p.Val245=) rs777551808 0.00001
NM_148919.4(PSMB8):c.743-5C>T rs1487587957 0.00001
NM_148919.4(PSMB8):c.756G>A (p.Lys252=) rs200016893 0.00001
NM_148919.4(PSMB8):c.147+15G>A rs2127380090
NM_148919.4(PSMB8):c.147+7G>A
NM_148919.4(PSMB8):c.147+7del
NM_148919.4(PSMB8):c.148-5A>T
NM_148919.4(PSMB8):c.15T>C (p.Asp5=) rs768986846
NM_148919.4(PSMB8):c.189G>A (p.Arg63=) rs752051688
NM_148919.4(PSMB8):c.195T>A (p.Val65=) rs2127378696
NM_148919.4(PSMB8):c.225G>A (p.Thr75=)
NM_148919.4(PSMB8):c.228C>G (p.Leu76=) rs1239428185
NM_148919.4(PSMB8):c.240C>T (p.Phe80=) rs529946385
NM_148919.4(PSMB8):c.258A>G (p.Ala86=) rs2483089224
NM_148919.4(PSMB8):c.27C>A (p.Ala9=) rs1770127717
NM_148919.4(PSMB8):c.296-11T>A
NM_148919.4(PSMB8):c.296-15T>G rs1224334453
NM_148919.4(PSMB8):c.296-4C>T rs2127378189
NM_148919.4(PSMB8):c.304C>A (p.Arg102=) rs1402857650
NM_148919.4(PSMB8):c.309G>T (p.Val103=) rs2127378137
NM_148919.4(PSMB8):c.312C>T (p.Asn104=) rs200315612
NM_148919.4(PSMB8):c.318G>C (p.Val106=)
NM_148919.4(PSMB8):c.441A>G (p.Ser147=) rs1582606252
NM_148919.4(PSMB8):c.447G>T (p.Ser149=) rs561471558
NM_148919.4(PSMB8):c.459G>A (p.Lys153=)
NM_148919.4(PSMB8):c.504T>C (p.Ser168=) rs2483082986
NM_148919.4(PSMB8):c.51G>C (p.Ser17=) rs370520028
NM_148919.4(PSMB8):c.537+17C>A rs2127376941
NM_148919.4(PSMB8):c.537+18T>C rs1350986269
NM_148919.4(PSMB8):c.538-14C>G
NM_148919.4(PSMB8):c.555C>T (p.Tyr185=) rs751342591
NM_148919.4(PSMB8):c.564A>G (p.Glu188=)
NM_148919.4(PSMB8):c.576G>A (p.Arg192=) rs1769917216
NM_148919.4(PSMB8):c.57C>T (p.Leu19=) rs1562354879
NM_148919.4(PSMB8):c.606T>C (p.Ser202=) rs1169424553
NM_148919.4(PSMB8):c.609G>A (p.Gly203=) rs2483079914
NM_148919.4(PSMB8):c.60G>T (p.Pro20=) rs534440899
NM_148919.4(PSMB8):c.646C>A (p.Arg216=)
NM_148919.4(PSMB8):c.648G>C (p.Arg216=) rs1044076117
NM_148919.4(PSMB8):c.660C>T (p.Ser220=)
NM_148919.4(PSMB8):c.672C>T (p.Ala224=) rs2127376198
NM_148919.4(PSMB8):c.690G>A (p.Arg230=) rs1236212003
NM_148919.4(PSMB8):c.6G>C (p.Ala2=) rs1770132102
NM_148919.4(PSMB8):c.720C>T (p.Ser240=)
NM_148919.4(PSMB8):c.742+15C>T rs778680249
NM_148919.4(PSMB8):c.759A>G (p.Glu253=)
NM_148919.4(PSMB8):c.801G>T (p.Leu267=)

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