ClinVar Miner

List of variants in gene BCOR reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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NM_001123385.1(BCOR):c.1260_1261invTG (p.Gly421Ser)
NM_001123385.1(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_017745.5(BCOR):c.1232G>A (p.Arg411Gln) rs754579483
NM_017745.5(BCOR):c.1391C>T (p.Thr464Met)
NM_017745.5(BCOR):c.1780G>A (p.Val594Ile) rs764515953
NM_017745.5(BCOR):c.2166G>C (p.Leu722Phe) rs1041380012
NM_017745.5(BCOR):c.2203A>G (p.Ile735Val) rs768557634
NM_017745.5(BCOR):c.223A>T (p.Thr75Ser)
NM_017745.5(BCOR):c.2419G>C (p.Asp807His) rs1555918075
NM_017745.5(BCOR):c.2560G>A (p.Ala854Thr)
NM_017745.5(BCOR):c.2954A>T (p.Tyr985Phe) rs587778093
NM_017745.5(BCOR):c.3339C>T (p.Ser1113=) rs1226506629
NM_017745.5(BCOR):c.4217C>T (p.Pro1406Leu)
NM_017745.5(BCOR):c.479T>C (p.Val160Ala) rs1459702445
NM_017745.5(BCOR):c.5132A>C (p.His1711Pro) rs587778100
NM_017745.5(BCOR):c.520G>A (p.Asp174Asn)
NM_017745.5(BCOR):c.599C>T (p.Thr200Met)

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