ClinVar Miner

List of variants studied for proteasome-associated autoinflammatory syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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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.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
NM_148919.4(PSMB8):c.*8G>A rs376750959 0.00074
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) rs55853041 0.00071
NM_148919.4(PSMB8):c.*6G>C rs371747700 0.00029
NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu) rs141273371 0.00015
NM_148919.4(PSMB8):c.804G>A (p.Leu268=) rs371969268 0.00015
NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser) rs114636648 0.00014
NM_148919.4(PSMB8):c.386G>A (p.Arg129His) rs369078226 0.00007
NM_148919.4(PSMB8):c.575G>A (p.Arg192Gln) rs764672057 0.00007
NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp) rs200995701 0.00007
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met) rs748082671 0.00006
NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu) rs529946385 0.00006
NM_148919.4(PSMB8):c.666A>C (p.Glu222Asp) rs754578419 0.00006
NM_148919.4(PSMB8):c.633G>A (p.Met211Ile) rs137937891 0.00005
NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr) rs774341327 0.00004
NM_148919.4(PSMB8):c.384G>A (p.Glu128=) rs547664445 0.00004
NM_148919.4(PSMB8):c.487C>T (p.Arg163Trp) rs55835906 0.00004
NM_148919.4(PSMB8):c.*231C>T rs539015992 0.00003
NM_148919.4(PSMB8):c.272G>A (p.Arg91Gln) rs780859553 0.00003
NM_148919.4(PSMB8):c.100A>G (p.Ser34Gly) rs558277593 0.00002
NM_148919.4(PSMB8):c.137G>A (p.Arg46Gln) rs758313787 0.00002
NM_148919.4(PSMB8):c.154G>A (p.Glu52Lys) rs779815259 0.00002
NM_148919.4(PSMB8):c.193G>A (p.Val65Ile) rs940695600 0.00002
NM_148919.4(PSMB8):c.733G>A (p.Val245Ile) rs746897143 0.00002
NM_148919.4(PSMB8):c.*178G>A rs886061309 0.00001
NM_148919.4(PSMB8):c.*57C>T rs1371496516 0.00001
NM_148919.4(PSMB8):c.180C>T (p.Asp60=) rs757858465 0.00001
NM_148919.4(PSMB8):c.271C>T (p.Arg91Trp) rs201142158 0.00001
NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser) rs767636318 0.00001
NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys) rs757343575 0.00001
NM_148919.4(PSMB8):c.421C>T (p.Arg141Ter) rs374929612 0.00001
NM_148919.4(PSMB8):c.422G>A (p.Arg141Gln) rs1181818643 0.00001
NM_148919.4(PSMB8):c.493A>G (p.Met165Val) rs747199589 0.00001
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) rs547653681 0.00001
NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr) rs767937121 0.00001
NM_148919.4(PSMB8):c.710A>G (p.His237Arg) rs1361855322 0.00001
NC_000006.11:g.(?_30695893)_(36953949_?)dup
NM_002788.4(PSMA3):c.404+2T>C rs1555352516
NM_002788.4(PSMA3):c.697_699del (p.Arg233del) rs1555353410
NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter) rs1553209373
NM_004159.5(PSMB8):c.107_108del (p.Pro36fs)
NM_148919.4(PSMB8):c.*116C>T rs56138642
NM_148919.4(PSMB8):c.-35C>T rs886061311
NM_148919.4(PSMB8):c.163C>T (p.Gln55Ter)
NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr) rs886061310
NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys) rs1562352512
NM_148919.4(PSMB8):c.313A>C (p.Lys105Gln) rs1554239543
NM_148919.4(PSMB8):c.331C>A (p.Pro111Thr) rs1769997640
NM_148919.4(PSMB8):c.350T>C (p.Met117Thr) rs1769996135
NM_148919.4(PSMB8):c.352T>C (p.Ser118Pro)
NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn) rs1769994178
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter) rs146254972
NM_148919.4(PSMB8):c.441A>G (p.Ser147=) rs1582606252
NM_148919.4(PSMB8):c.517A>G (p.Ile173Val) rs1582605795
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg) rs1769920763
NM_148919.4(PSMB8):c.602G>T (p.Gly201Val) rs387906680
NM_148919.4(PSMB8):c.625G>A (p.Gly209Arg) rs1202502842
NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg) rs1202502842
NM_148919.4(PSMB8):c.646C>T (p.Arg216Trp)
NM_148919.4(PSMB8):c.798C>G (p.Asp266Glu) rs2127375356
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) rs368551668
NM_148919.4(PSMB8):c.826C>G (p.Gln276Glu)

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