ClinVar Miner

List of variants in gene BCOR reported as likely benign

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Gene type:
ClinVar version:
Total variants: 141
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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.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.1650C>T (p.Thr550=) rs17145653 0.00806
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.4680G>A (p.Thr1560=) rs146007249 0.00140
NM_001123385.2(BCOR):c.3413T>C (p.Val1138Ala) rs145327925 0.00090
NM_001123385.2(BCOR):c.2424T>C (p.Leu808=) rs142968718 0.00085
NM_001123385.2(BCOR):c.2423T>A (p.Leu808His) rs151125150 0.00083
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014 0.00082
NM_001123385.2(BCOR):c.3533G>A (p.Ser1178Asn) rs375639152 0.00076
NM_001123385.2(BCOR):c.4488A>C (p.Ala1496=) rs138741225 0.00076
NM_001123385.2(BCOR):c.3802A>G (p.Arg1268Gly) rs140897453 0.00058
NM_001123385.2(BCOR):c.223A>T (p.Thr75Ser) rs61744882 0.00055
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432 0.00053
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) rs142595337 0.00043
NM_001123385.2(BCOR):c.242G>A (p.Gly81Glu) rs144450053 0.00037
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.2148C>T (p.Tyr716=) rs146426767 0.00017
NM_001123385.2(BCOR):c.3502+19G>A rs376361422 0.00016
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys) rs202065982 0.00015
NM_001123385.2(BCOR):c.2124C>T (p.Thr708=) rs749386912 0.00014
NM_001123385.2(BCOR):c.2916C>T (p.Tyr972=) rs370067698 0.00014
NM_001123385.2(BCOR):c.365T>C (p.Met122Thr) rs369585835 0.00014
NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys) rs144736705 0.00013
NM_001123385.2(BCOR):c.5001G>A (p.Ser1667=) rs375878497 0.00012
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=) rs753786462 0.00011
NM_001123385.2(BCOR):c.4931C>T (p.Thr1644Ile) rs780610123 0.00009
NM_001123385.2(BCOR):c.3491G>A (p.Arg1164Gln) rs769057299 0.00006
NM_001123385.2(BCOR):c.4014A>C (p.Glu1338Asp) rs142866108 0.00006
NM_001123385.2(BCOR):c.4890C>T (p.Asp1630=) rs750330961 0.00006
NM_001123385.2(BCOR):c.4960G>C (p.Val1654Leu) rs138012019 0.00006
NM_001123385.2(BCOR):c.1620G>A (p.Arg540=) rs144347073 0.00005
NM_001123385.2(BCOR):c.2631C>T (p.Thr877=) rs780203470 0.00005
NM_001123385.2(BCOR):c.2910G>A (p.Ala970=) rs138137552 0.00005
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.3951G>A (p.Pro1317=) rs972573105 0.00005
NM_001123385.2(BCOR):c.4152C>T (p.Tyr1384=) rs750973796 0.00005
NM_001123385.2(BCOR):c.1708G>A (p.Ala570Thr) rs748813798 0.00004
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.3052-14C>T rs373005644 0.00004
NM_001123385.2(BCOR):c.347C>T (p.Ser116Leu) rs775994643 0.00004
NM_001123385.2(BCOR):c.4599T>C (p.Pro1533=) rs189304389 0.00004
NM_001123385.2(BCOR):c.1651G>A (p.Asp551Asn) rs372463512 0.00003
NM_001123385.2(BCOR):c.1668C>T (p.Asn556=) rs765752304 0.00003
NM_001123385.2(BCOR):c.2213C>T (p.Thr738Ile) rs767346654 0.00003
NM_001123385.2(BCOR):c.2512C>T (p.Pro838Ser) rs148571491 0.00003
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.4944G>A (p.Pro1648=) rs1479323402 0.00003
NM_001123385.2(BCOR):c.1707C>T (p.Ser569=) rs1438078198 0.00001
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.2343C>T (p.Thr781=) rs754818592 0.00001
NM_001123385.2(BCOR):c.267C>G (p.Val89=) rs371808275 0.00001
NM_001123385.2(BCOR):c.2877A>G (p.Pro959=) rs763853464 0.00001
NM_001123385.2(BCOR):c.3349G>A (p.Ala1117Thr) rs374493655 0.00001
NM_001123385.2(BCOR):c.3847+17C>T rs749560832 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
NM_001123385.2(BCOR):c.4485C>T (p.Asn1495=) rs754796420 0.00001
NM_001123385.2(BCOR):c.4824A>C (p.Pro1608=) rs760093247 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.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.1779C>T (p.Ser593=)
NM_001123385.2(BCOR):c.1902A>G (p.Pro634=) rs963000229
NM_001123385.2(BCOR):c.2091C>G (p.Ala697=)
NM_001123385.2(BCOR):c.2199G>A (p.Thr733=)
NM_001123385.2(BCOR):c.2235G>A (p.Arg745=)
NM_001123385.2(BCOR):c.2265C>T (p.Tyr755=)
NM_001123385.2(BCOR):c.2288G>T (p.Arg763Leu) rs139011455
NM_001123385.2(BCOR):c.2409T>A (p.Leu803=) rs909983948
NM_001123385.2(BCOR):c.2422C>T (p.Leu808Phe)
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) rs1569155643
NM_001123385.2(BCOR):c.2460C>T (p.Asn820=)
NM_001123385.2(BCOR):c.2607T>C (p.Tyr869=)
NM_001123385.2(BCOR):c.2609C>G (p.Thr870Ser)
NM_001123385.2(BCOR):c.2646T>C (p.Ser882=)
NM_001123385.2(BCOR):c.2647G>A (p.Val883Ile) rs909942650
NM_001123385.2(BCOR):c.2650C>G (p.Leu884Val)
NM_001123385.2(BCOR):c.2650C>T (p.Leu884=) rs1442932290
NM_001123385.2(BCOR):c.2691G>A (p.Ser897=)
NM_001123385.2(BCOR):c.2691G>T (p.Ser897=)
NM_001123385.2(BCOR):c.2694T>G (p.Thr898=) rs2147204732
NM_001123385.2(BCOR):c.2807C>A (p.Thr936Asn)
NM_001123385.2(BCOR):c.285A>G (p.Gly95=) rs143135906
NM_001123385.2(BCOR):c.300A>G (p.Lys100=) rs775494265
NM_001123385.2(BCOR):c.3120C>T (p.Asp1040=)
NM_001123385.2(BCOR):c.3239-6C>T
NM_001123385.2(BCOR):c.3246T>C (p.Tyr1082=)
NM_001123385.2(BCOR):c.3261G>T (p.Lys1087Asn) rs933663018
NM_001123385.2(BCOR):c.3305T>C (p.Val1102Ala) rs111622737
NM_001123385.2(BCOR):c.3305T>G (p.Val1102Gly) rs111622737
NM_001123385.2(BCOR):c.3348C>T (p.Pro1116=)
NM_001123385.2(BCOR):c.3417A>C (p.Ser1139=) rs1602130461
NM_001123385.2(BCOR):c.3450G>A (p.Glu1150=)
NM_001123385.2(BCOR):c.3485G>A (p.Arg1162His)
NM_001123385.2(BCOR):c.3500A>G (p.Lys1167Arg) rs1935079756
NM_001123385.2(BCOR):c.3693G>T (p.Arg1231=) rs2147054803
NM_001123385.2(BCOR):c.3747G>C (p.Gly1249=)
NM_001123385.2(BCOR):c.3801C>G (p.Asn1267Lys)
NM_001123385.2(BCOR):c.3834T>C (p.Ser1278=)
NM_001123385.2(BCOR):c.3847+7G>C rs142686469
NM_001123385.2(BCOR):c.3848-20G>A
NM_001123385.2(BCOR):c.3848-32G>C rs763391206
NM_001123385.2(BCOR):c.387C>A (p.Pro129=)
NM_001123385.2(BCOR):c.387C>G (p.Pro129=) rs769854762
NM_001123385.2(BCOR):c.3893C>T (p.Ser1298Phe)
NM_001123385.2(BCOR):c.3936A>G (p.Ala1312=)
NM_001123385.2(BCOR):c.3978A>G (p.Glu1326=)
NM_001123385.2(BCOR):c.4095C>G (p.Thr1365=)
NM_001123385.2(BCOR):c.4173+13C>A rs2147028349
NM_001123385.2(BCOR):c.4173+8T>C
NM_001123385.2(BCOR):c.4218C>T (p.Asp1406=) rs2147014917
NM_001123385.2(BCOR):c.4281A>T (p.Pro1427=)
NM_001123385.2(BCOR):c.4413C>G (p.Ala1471=) rs1602121380
NM_001123385.2(BCOR):c.4428+16C>T rs753776453
NM_001123385.2(BCOR):c.4533C>T (p.Asn1511=)
NM_001123385.2(BCOR):c.4578T>C (p.Ser1526=)
NM_001123385.2(BCOR):c.4595+9T>G
NM_001123385.2(BCOR):c.4596-10C>G
NM_001123385.2(BCOR):c.4644A>G (p.Leu1548=)
NM_001123385.2(BCOR):c.4741+8A>G
NM_001123385.2(BCOR):c.4742-184dup rs147324206
NM_001123385.2(BCOR):c.4891G>A (p.Asp1631Asn)
NM_001123385.2(BCOR):c.4905T>C (p.Asp1635=)
NM_001123385.2(BCOR):c.4908G>A (p.Val1636=)
NM_001123385.2(BCOR):c.4943C>T (p.Pro1648Leu)
NM_001123385.2(BCOR):c.4976+17T>C
NM_001123385.2(BCOR):c.86+6T>C
NM_001123385.2(BCOR):c.86+8C>G rs753791832
NM_001123385.2(BCOR):c.87-19G>A

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