ClinVar Miner

List of variants in gene BCOR reported as pathogenic for Oculofaciocardiodental syndrome

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His) rs372913827 0.00002
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu) rs121434618 0.00001
NC_000023.10:g.(?_39916388)_(39937202_?)del
NC_000023.10:g.(?_39921372)_(39923872_?)del
NC_000023.11:g.(?_40070953)_(40077949_?)dup
NG_008880.1:g.(5324_84863)_?del
NM_001123385.2(BCOR):c.2389_2390del (p.Val797fs) rs2147215369
NM_001123385.2(BCOR):c.2488_2489del (p.Ser830fs) rs1555918014
NM_001123385.2(BCOR):c.2514del (p.Lys839fs) rs1394942244
NM_001123385.2(BCOR):c.2613del (p.Phe871fs) rs730880013
NM_001123385.2(BCOR):c.2617C>T (p.Gln873Ter) rs2147206769
NM_001123385.2(BCOR):c.2858_2859del (p.Lys953fs) rs1602147278
NM_001123385.2(BCOR):c.2926C>T (p.Arg976Ter) rs121434619
NM_001123385.2(BCOR):c.2983C>T (p.Gln995Ter)
NM_001123385.2(BCOR):c.3090_3091del (p.Glu1032fs)
NM_001123385.2(BCOR):c.3090_3093del (p.Arg1031fs) rs2147176806
NM_001123385.2(BCOR):c.3153G>A (p.Trp1051Ter)
NM_001123385.2(BCOR):c.3165_3166delinsC (p.Lys1055fs)
NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs)
NM_001123385.2(BCOR):c.3226del (p.Glu1076fs) rs2147172268
NM_001123385.2(BCOR):c.3244dup (p.Tyr1082fs) rs1602131405
NM_001123385.2(BCOR):c.3268del (p.Asp1090fs) rs1555915854
NM_001123385.2(BCOR):c.3286del (p.Glu1096fs) rs1602131169
NM_001123385.2(BCOR):c.3355C>T (p.Gln1119Ter)
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.3983del (p.Gln1328fs) rs1602124517
NM_001123385.2(BCOR):c.4140_4141del (p.Glu1382fs)
NM_001123385.2(BCOR):c.4174-1G>T rs1569146193
NM_001123385.2(BCOR):c.4304_4308del (p.Pro1435fs) rs730880034
NM_001123385.2(BCOR):c.4328_4329del (p.Thr1443fs) rs2147004911
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.4551del (p.Glu1518fs) rs2146922561
NM_001123385.2(BCOR):c.4711del (p.His1571fs) rs1934541230
NM_001123385.2(BCOR):c.4742-141_4977-665del
NM_001123385.2(BCOR):c.4936dup (p.Leu1646fs) rs748074364
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) rs755680047

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