ClinVar Miner

List of variants in gene PSMB8 studied for Inborn genetic diseases

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu) rs141273371 0.00015
NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser) rs114636648 0.00015
NM_148919.4(PSMB8):c.733G>A (p.Val245Ile) rs746897143 0.00002
NM_148919.4(PSMB8):c.200T>C (p.Ile67Thr) rs1404049971 0.00001
NM_148919.4(PSMB8):c.254T>C (p.Ile85Thr) rs548445572 0.00001
NM_148919.4(PSMB8):c.470A>G (p.Asn157Ser) rs372030309 0.00001
NM_148919.4(PSMB8):c.493A>G (p.Met165Val) rs747199589 0.00001
NM_148919.4(PSMB8):c.710A>G (p.His237Arg) rs1361855322 0.00001
NM_148919.4(PSMB8):c.299C>G (p.Ala100Gly)
NM_148919.4(PSMB8):c.307G>A (p.Val103Met)
NM_148919.4(PSMB8):c.358T>C (p.Cys120Arg) rs780356087
NM_148919.4(PSMB8):c.40C>G (p.Arg14Gly) rs1267147292
NM_148919.4(PSMB8):c.446C>T (p.Ser149Leu)
NM_148919.4(PSMB8):c.488G>A (p.Arg163Gln)
NM_148919.4(PSMB8):c.547C>T (p.Leu183Phe) rs2483080467
NM_148919.4(PSMB8):c.559G>A (p.Asp187Asn)
NM_148919.4(PSMB8):c.674A>G (p.Tyr225Cys)
NM_148919.4(PSMB8):c.734T>C (p.Val245Ala)
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) rs368551668
NM_148919.4(PSMB8):c.83C>G (p.Ser28Trp) rs1210406763

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