ClinVar Miner

List of variants in gene BCOR reported as pathogenic for X-linked disease

Included ClinVar conditions (313):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
BCOR, 60-KB DEL
BCOR, EX9-15DEL
NC_000023.11:g.(?_40051246)_(40075180_?)del
NC_000023.11:g.(?_40052089)_(40077949_?)del
NC_000023.11:g.(?_40057155)_(40077969_?)del
NC_000023.11:g.(?_40070953)_(40077949_?)dup
NM_001123385.2(BCOR):c.2484_2485AG[2] (p.Ser830fs) rs1555918014
NM_001123385.2(BCOR):c.2514del (p.Lys839fs)
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu) rs121434618
NM_001123385.2(BCOR):c.2613del (p.Phe871fs) rs730880013
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.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.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.3983del (p.Gln1328fs) rs1602124517
NM_001123385.2(BCOR):c.4174-1G>T rs1569146193
NM_001123385.2(BCOR):c.4304_4308del (p.Pro1435fs) rs730880034
NM_001123385.2(BCOR):c.4742-141_4977-665del
NM_001123385.2(BCOR):c.786_790dup (p.Pro264fs)
NM_001123385.2(BCOR):c.982del (p.Asp328fs)

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