ClinVar Miner

List of variants in gene BCOR reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001123385.2(BCOR):c.4977-74G>A rs112177141 0.01551
NM_001123385.2(BCOR):c.165+166C>T rs140614926 0.01322
NM_001123385.2(BCOR):c.4596-117G>A rs115681005 0.01171
NM_001123385.2(BCOR):c.4742-234C>T rs148116971 0.00953
NM_001123385.2(BCOR):c.166-172G>A rs182973004 0.00718
NM_001123385.2(BCOR):c.3238+183C>T rs187391922 0.00541
NM_001123385.2(BCOR):c.2997+214G>A rs151099543 0.00473
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.3378C>T (p.His1126=) rs137923016 0.00030
NM_001123385.2(BCOR):c.4383C>T (p.Asn1461=) rs189731022 0.00023
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys) rs202065982 0.00015
NM_001123385.2(BCOR):c.4014A>C (p.Glu1338Asp) rs142866108 0.00006
NM_001123385.2(BCOR):c.2631C>T (p.Thr877=) rs780203470 0.00005
NM_001123385.2(BCOR):c.4152C>T (p.Tyr1384=) rs750973796 0.00005
NM_001123385.2(BCOR):c.179C>T (p.Thr60Met) rs202121665 0.00004
NM_001123385.2(BCOR):c.2598C>T (p.His866=) rs778532489 0.00004
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val) rs768557634 0.00001
NM_001123385.2(BCOR):c.2295C>T (p.Ser765=) rs1394435368 0.00001
NM_001123385.2(BCOR):c.3349G>A (p.Ala1117Thr) rs374493655 0.00001
NM_001123385.2(BCOR):c.4080G>A (p.Lys1360=) rs1204263913 0.00001
NM_001123385.2(BCOR):c.4188A>G (p.Arg1396=) rs1340294679 0.00001
GRCh37/hg19 Xp11.4(chrX:39645568-40132052)x3
NM_001123385.2(BCOR):c.1680A>G (p.Ser560=) rs917209632
NM_001123385.2(BCOR):c.2199G>A (p.Thr733=)
NM_001123385.2(BCOR):c.2609C>G (p.Thr870Ser)
NM_001123385.2(BCOR):c.2646T>C (p.Ser882=)
NM_001123385.2(BCOR):c.2650C>G (p.Leu884Val)
NM_001123385.2(BCOR):c.2691G>T (p.Ser897=)
NM_001123385.2(BCOR):c.2807C>A (p.Thr936Asn)
NM_001123385.2(BCOR):c.3417A>C (p.Ser1139=) rs1602130461
NM_001123385.2(BCOR):c.3847+7G>C rs142686469
NM_001123385.2(BCOR):c.3848-32G>C rs763391206
NM_001123385.2(BCOR):c.4742-184dup rs147324206
NM_001123385.2(BCOR):c.4905T>C (p.Asp1635=)

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