ClinVar Miner

List of variants in gene BCOR reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_39916388)_(39937202_?)del
NC_000023.10:g.(?_39921372)_(39923872_?)del
NC_000023.11:g.(?_40070953)_(40077949_?)dup
NM_001123385.2(BCOR):c.2514del (p.Lys839fs) rs1394942244
NM_001123385.2(BCOR):c.2858_2859del (p.Lys953fs) rs1602147278
NM_001123385.2(BCOR):c.3090_3093del (p.Arg1031fs) rs2147176806
NM_001123385.2(BCOR):c.3153G>A (p.Trp1051Ter)
NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs)
NM_001123385.2(BCOR):c.3244dup (p.Tyr1082fs) rs1602131405
NM_001123385.2(BCOR):c.3388dup (p.Leu1130fs) rs1555915785
NM_001123385.2(BCOR):c.3410_3411del (p.Lys1137fs) rs1555915763
NM_001123385.2(BCOR):c.3463del (p.Asp1155fs) rs1602130230
NM_001123385.2(BCOR):c.3467del (p.Pro1156fs) rs1602130188
NM_001123385.2(BCOR):c.3487C>T (p.Arg1163Ter) rs1935081157
NM_001123385.2(BCOR):c.3648_3933del286insGCT (p.Arg1217fs)
NM_001123385.2(BCOR):c.3649C>T (p.Arg1217Ter) rs1935034055
NM_001123385.2(BCOR):c.4140_4141del (p.Glu1382fs)
NM_001123385.2(BCOR):c.4406_4412del (p.Arg1469fs)
NM_001123385.2(BCOR):c.4497C>A (p.Cys1499Ter) rs766620661
NM_001123385.2(BCOR):c.4540C>T (p.Arg1514Ter) rs199676230
NM_001123385.2(BCOR):c.4711del (p.His1571fs) rs1934541230

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