ClinVar Miner

List of variants in gene BUB1B reported as pathogenic by Invitae

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001211.6(BUB1B):c.2210T>G (p.Leu737Ter) rs759242053 0.00004
NM_001211.6(BUB1B):c.199C>T (p.Arg67Ter) rs200884355 0.00002
NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter) rs769350713 0.00002
NM_001211.6(BUB1B):c.1648C>T (p.Arg550Ter) rs767213728 0.00001
NM_001211.6(BUB1B):c.2308C>T (p.Arg770Ter) rs750364303 0.00001
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His) rs28989182 0.00001
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) rs28989186 0.00001
NM_001211.6(BUB1B):c.595C>T (p.Arg199Ter) rs1403423766 0.00001
NC_000015.9:g.(?_40453422)_(40457417_?)del
NM_001211.6(BUB1B):c.1141del (p.Arg381fs)
NM_001211.6(BUB1B):c.1198A>T (p.Lys400Ter)
NM_001211.6(BUB1B):c.1298T>A (p.Leu433Ter) rs2140900203
NM_001211.6(BUB1B):c.1302del (p.Ser435fs)
NM_001211.6(BUB1B):c.1313_1317del (p.Lys438fs)
NM_001211.6(BUB1B):c.1378C>T (p.Gln460Ter)
NM_001211.6(BUB1B):c.1387A>T (p.Arg463Ter) rs1566824608
NM_001211.6(BUB1B):c.1441C>T (p.Gln481Ter) rs2140900615
NM_001211.6(BUB1B):c.1466_1470dup (p.Gly491fs) rs2140900652
NM_001211.6(BUB1B):c.1663C>T (p.Arg555Ter)
NM_001211.6(BUB1B):c.169C>T (p.Gln57Ter) rs2140878554
NM_001211.6(BUB1B):c.1743del (p.Phe581fs)
NM_001211.6(BUB1B):c.1906del (p.Glu636fs) rs2140904074
NM_001211.6(BUB1B):c.1954C>T (p.Gln652Ter) rs1401171363
NM_001211.6(BUB1B):c.2153del (p.Thr718fs)
NM_001211.6(BUB1B):c.2208_2211dup (p.Ser738fs) rs1392909108
NM_001211.6(BUB1B):c.2210del (p.Glu736_Leu737insTer) rs2140906206
NM_001211.6(BUB1B):c.2298C>G (p.Tyr766Ter)
NM_001211.6(BUB1B):c.2316C>G (p.Tyr772Ter) rs1595533765
NM_001211.6(BUB1B):c.2334C>G (p.Tyr778Ter) rs2037693105
NM_001211.6(BUB1B):c.2363_2364del (p.Ser788fs) rs756459860
NM_001211.6(BUB1B):c.2478T>G (p.Tyr826Ter) rs2037728032
NM_001211.6(BUB1B):c.2566del (p.His856fs) rs749762155
NM_001211.6(BUB1B):c.310del (p.Arg104fs)
NM_001211.6(BUB1B):c.358C>T (p.Arg120Ter) rs2037151440
NM_001211.6(BUB1B):c.422dup (p.Tyr141Ter) rs1455613910
NM_001211.6(BUB1B):c.578del (p.His193fs) rs1179465577
NM_001211.6(BUB1B):c.693_694insTT (p.Ser232fs) rs2037326125
NM_001211.6(BUB1B):c.709_712del (p.Thr237fs) rs992789522
NM_001211.6(BUB1B):c.799C>T (p.Gln267Ter) rs746135465
NM_001211.6(BUB1B):c.871del (p.Thr291fs)
NM_001211.6(BUB1B):c.877C>T (p.Gln293Ter) rs2140890776
NM_001211.6(BUB1B):c.897del (p.Met300fs)
NM_001211.6(BUB1B):c.897dup (p.Met300fs)
NM_001211.6(BUB1B):c.925C>T (p.Gln309Ter) rs2037346846
NM_001211.6(BUB1B):c.94_95insGCTCTCCCTCTCCCTCTCCCGCTCCCGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAATGTACAACCTT (p.Leu32fs)

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