ClinVar Miner

List of variants in gene BCOR reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34271
NM_001123385.2(BCOR):c.4977-4G>T rs5963725 0.16998
NM_001123385.2(BCOR):c.1791C>T (p.His597=) rs144606152 0.03194
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) rs17145653 0.00806
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=) rs146007249 0.00140
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014 0.00082
NM_001123385.2(BCOR):c.4488A>C (p.Ala1496=) rs138741225 0.00076
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432 0.00053
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg) rs187172641 0.00027
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=) rs753786462 0.00011
NM_001123385.2(BCOR):c.4014A>C (p.Glu1338Asp) rs142866108 0.00006
NM_001123385.2(BCOR):c.3486C>T (p.Arg1162=) rs1262548157 0.00005
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) rs753256966 0.00005
NM_001123385.2(BCOR):c.4053C>T (p.Thr1351=) rs781252900 0.00003
NM_001123385.2(BCOR):c.4902C>T (p.Ser1634=) rs747409134 0.00003
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.1805C>T (p.Pro602Leu) rs766045784
NM_001123385.2(BCOR):c.2199G>T (p.Thr733=) rs140693978
NM_001123385.2(BCOR):c.3305T>C (p.Val1102Ala) rs111622737

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