ClinVar Miner

List of variants in gene BCOR reported as likely pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NC_000023.11:g.(?_40052108)_(40077930_?)del
NM_001123383.1(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001123383.1(BCOR):c.3437_3445del (p.Glu1146_Thr1148del) rs1555915744
NM_001123383.1(BCOR):c.4009C>T (p.Gln1337Ter) rs863224850

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