ClinVar Miner

List of variants in gene BCOR studied for Oculofaciocardiodental syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 294
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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.3413T>C (p.Val1138Ala) rs145327925 0.00090
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.5037A>T (p.Ile1679=) rs113588421 0.00064
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.2525T>C (p.Val842Ala) rs143119333 0.00032
NM_001123385.2(BCOR):c.5190G>A (p.Thr1730=) rs375139386 0.00032
NM_001123385.2(BCOR):c.3378C>T (p.His1126=) rs137923016 0.00030
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg) rs187172641 0.00027
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.3669G>A (p.Ser1223=) rs372032523 0.00016
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys) rs202065982 0.00015
NM_001123385.2(BCOR):c.4765C>T (p.Arg1589Cys) rs754643148 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.3277G>A (p.Glu1093Lys) rs144736705 0.00013
NM_001123385.2(BCOR):c.5001G>A (p.Ser1667=) rs375878497 0.00012
NM_001123385.2(BCOR):c.5058C>T (p.Asn1686=) rs369322807 0.00012
NM_001123385.2(BCOR):c.3446C>T (p.Ala1149Val) rs368780561 0.00011
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=) rs753786462 0.00011
NM_001123385.2(BCOR):c.1669G>A (p.Val557Ile) rs201939220 0.00010
NM_001123385.2(BCOR):c.2032C>T (p.Pro678Ser) rs145560179 0.00009
NM_001123385.2(BCOR):c.3366G>A (p.Ser1122=) rs374359497 0.00009
NM_001123385.2(BCOR):c.4203G>A (p.Pro1401=) rs376940750 0.00009
NM_001123385.2(BCOR):c.4305A>G (p.Pro1435=) rs144653977 0.00009
NM_001123385.2(BCOR):c.4766G>A (p.Arg1589His) rs367859441 0.00009
NM_001123385.2(BCOR):c.4931C>T (p.Thr1644Ile) rs780610123 0.00009
NM_001123385.2(BCOR):c.2633T>C (p.Val878Ala) rs759983308 0.00008
NM_001123385.2(BCOR):c.4174-20G>A rs374547123 0.00008
NM_001123385.2(BCOR):c.5193C>T (p.Asn1731=) rs766578072 0.00008
NM_001123385.2(BCOR):c.188G>A (p.Arg63Lys) rs751977474 0.00007
NM_001123385.2(BCOR):c.2129G>A (p.Arg710His) rs200732803 0.00007
NM_001123385.2(BCOR):c.2690C>T (p.Ser897Leu) rs147251146 0.00007
NM_001123385.2(BCOR):c.3872C>T (p.Pro1291Leu) rs371205644 0.00007
NM_001123385.2(BCOR):c.3036C>T (p.Pro1012=) rs190344757 0.00006
NM_001123385.2(BCOR):c.3491G>A (p.Arg1164Gln) rs769057299 0.00006
NM_001123385.2(BCOR):c.3848-10C>T rs765267478 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.1780G>A (p.Val594Ile) rs764515953 0.00005
NM_001123385.2(BCOR):c.2910G>A (p.Ala970=) rs138137552 0.00005
NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe) rs587778093 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.4008C>T (p.Asp1336=) rs373762694 0.00005
NM_001123385.2(BCOR):c.4013A>G (p.Glu1338Gly) rs770784599 0.00005
NM_001123385.2(BCOR):c.4152C>T (p.Tyr1384=) rs750973796 0.00005
NM_001123385.2(BCOR):c.4258G>A (p.Asp1420Asn) rs886042813 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.2008C>T (p.Pro670Ser) rs148886271 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.3813G>A (p.Ser1271=) rs746505412 0.00004
NM_001123385.2(BCOR):c.4202C>T (p.Pro1401Leu) rs201959477 0.00004
NM_001123385.2(BCOR):c.4581C>T (p.Ala1527=) rs758631631 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.2014T>G (p.Ser672Ala) rs372910732 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.2769A>G (p.Pro923=) rs371210264 0.00003
NM_001123385.2(BCOR):c.3266G>A (p.Arg1089His) rs772117755 0.00003
NM_001123385.2(BCOR):c.3691C>T (p.Arg1231Trp) rs147934033 0.00003
NM_001123385.2(BCOR):c.3831C>T (p.Pro1277=) rs775358295 0.00003
NM_001123385.2(BCOR):c.4053C>T (p.Thr1351=) rs781252900 0.00003
NM_001123385.2(BCOR):c.4679C>T (p.Thr1560Met) rs762705967 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.221G>A (p.Arg74His) rs1434826738 0.00002
NM_001123385.2(BCOR):c.2789C>G (p.Pro930Arg) rs753661121 0.00002
NM_001123385.2(BCOR):c.2898C>T (p.Ile966=) rs775251964 0.00002
NM_001123385.2(BCOR):c.3339C>T (p.Ser1113=) rs1226506629 0.00002
NM_001123385.2(BCOR):c.3692G>A (p.Arg1231Gln) rs773204535 0.00002
NM_001123385.2(BCOR):c.3950C>T (p.Pro1317Leu) rs780412607 0.00002
NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu) rs1033092772 0.00002
NM_001123385.2(BCOR):c.4620C>T (p.Asn1540=) rs370429826 0.00002
NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His) rs372913827 0.00002
NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro) rs587778100 0.00002
NM_001123385.2(BCOR):c.1707C>T (p.Ser569=) rs1438078198 0.00001
NM_001123385.2(BCOR):c.1848C>T (p.Gly616=) rs758579970 0.00001
NM_001123385.2(BCOR):c.1910C>G (p.Ser637Cys) rs148052848 0.00001
NM_001123385.2(BCOR):c.1981C>G (p.Pro661Ala) rs749370134 0.00001
NM_001123385.2(BCOR):c.2166G>C (p.Leu722Phe) rs1041380012 0.00001
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val) rs768557634 0.00001
NM_001123385.2(BCOR):c.2343C>T (p.Thr781=) rs754818592 0.00001
NM_001123385.2(BCOR):c.235C>T (p.Arg79Trp) rs1462787258 0.00001
NM_001123385.2(BCOR):c.2519C>T (p.Pro840Leu) rs904253464 0.00001
NM_001123385.2(BCOR):c.2520C>G (p.Pro840=) rs781016038 0.00001
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu) rs121434618 0.00001
NM_001123385.2(BCOR):c.2560G>A (p.Ala854Thr) rs527732438 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.3092G>A (p.Arg1031Lys) rs755537147 0.00001
NM_001123385.2(BCOR):c.3291C>A (p.Asp1097Glu) rs1935101181 0.00001
NM_001123385.2(BCOR):c.3349G>A (p.Ala1117Thr) rs374493655 0.00001
NM_001123385.2(BCOR):c.3410A>G (p.Lys1137Arg) rs758078994 0.00001
NM_001123385.2(BCOR):c.3512C>T (p.Pro1171Leu) rs1474217458 0.00001
NM_001123385.2(BCOR):c.3847+17C>T rs749560832 0.00001
NM_001123385.2(BCOR):c.3987G>C (p.Lys1329Asn) rs752258567 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
NM_001123385.2(BCOR):c.4858C>G (p.Pro1620Ala) rs759345634 0.00001
NM_001123385.2(BCOR):c.4903G>A (p.Asp1635Asn) rs367883774 0.00001
NC_000023.10:g.(?_39916388)_(39937202_?)del
NC_000023.10:g.(?_39921372)_(39923872_?)del
NC_000023.11:g.(?_40070953)_(40077949_?)dup
NG_008880.1:g.(5324_84863)_?del
NM_001123385.2(BCOR):c.111C>T (p.Asp37=)
NM_001123385.2(BCOR):c.112G>A (p.Ala38Thr)
NM_001123385.2(BCOR):c.1696C>T (p.Arg566Cys) rs1935607481
NM_001123385.2(BCOR):c.1723A>G (p.Asn575Asp) rs1602151728
NM_001123385.2(BCOR):c.176G>A (p.Ser59Asn) rs1197348343
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.184C>T (p.His62Tyr)
NM_001123385.2(BCOR):c.1862A>G (p.Asn621Ser)
NM_001123385.2(BCOR):c.1901C>A (p.Pro634Gln)
NM_001123385.2(BCOR):c.1902A>G (p.Pro634=) rs963000229
NM_001123385.2(BCOR):c.1908C>G (p.Ser636Arg)
NM_001123385.2(BCOR):c.1912A>G (p.Ile638Val)
NM_001123385.2(BCOR):c.1987C>A (p.Pro663Thr)
NM_001123385.2(BCOR):c.206C>T (p.Ala69Val)
NM_001123385.2(BCOR):c.2091C>G (p.Ala697=)
NM_001123385.2(BCOR):c.2172G>T (p.Met724Ile)
NM_001123385.2(BCOR):c.2199G>T (p.Thr733=) rs140693978
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.2351A>T (p.Asn784Ile)
NM_001123385.2(BCOR):c.2389_2390del (p.Val797fs) rs2147215369
NM_001123385.2(BCOR):c.2396A>G (p.Lys799Arg)
NM_001123385.2(BCOR):c.2409T>A (p.Leu803=) rs909983948
NM_001123385.2(BCOR):c.2419G>C (p.Asp807His) rs1555918075
NM_001123385.2(BCOR):c.2421C>A (p.Asp807Glu)
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) rs1569155643
NM_001123385.2(BCOR):c.2449del (p.Thr817fs) rs1602148660
NM_001123385.2(BCOR):c.2460C>T (p.Asn820=)
NM_001123385.2(BCOR):c.2461G>A (p.Val821Met)
NM_001123385.2(BCOR):c.2488_2489del (p.Ser830fs) rs1555918014
NM_001123385.2(BCOR):c.2500A>G (p.Ser834Gly)
NM_001123385.2(BCOR):c.2506G>A (p.Glu836Lys)
NM_001123385.2(BCOR):c.2514del (p.Lys839fs) rs1394942244
NM_001123385.2(BCOR):c.2600A>G (p.Glu867Gly) rs2147207207
NM_001123385.2(BCOR):c.2607T>C (p.Tyr869=)
NM_001123385.2(BCOR):c.2613del (p.Phe871fs) rs730880013
NM_001123385.2(BCOR):c.2617C>T (p.Gln873Ter) rs2147206769
NM_001123385.2(BCOR):c.2647G>A (p.Val883Ile) rs909942650
NM_001123385.2(BCOR):c.2650C>T (p.Leu884=) rs1442932290
NM_001123385.2(BCOR):c.2655_2660del (p.Gly886_Thr887del) rs2147205508
NM_001123385.2(BCOR):c.2664C>A (p.Asn888Lys) rs1935534815
NM_001123385.2(BCOR):c.2691G>A (p.Ser897=)
NM_001123385.2(BCOR):c.2691G>C (p.Ser897=) rs3810693
NM_001123385.2(BCOR):c.2691G>T (p.Ser897=)
NM_001123385.2(BCOR):c.2694T>G (p.Thr898=) rs2147204732
NM_001123385.2(BCOR):c.2722G>A (p.Asp908Asn) rs542522950
NM_001123385.2(BCOR):c.2815T>C (p.Tyr939His) rs2147202440
NM_001123385.2(BCOR):c.2858_2859del (p.Lys953fs) rs1602147278
NM_001123385.2(BCOR):c.285A>G (p.Gly95=) rs143135906
NM_001123385.2(BCOR):c.2917G>A (p.Val973Met)
NM_001123385.2(BCOR):c.2926C>T (p.Arg976Ter) rs121434619
NM_001123385.2(BCOR):c.2983C>T (p.Gln995Ter)
NM_001123385.2(BCOR):c.2997+12del
NM_001123385.2(BCOR):c.2997+12dup
NM_001123385.2(BCOR):c.300A>G (p.Lys100=) rs775494265
NM_001123385.2(BCOR):c.3052-13G>A
NM_001123385.2(BCOR):c.3053G>C (p.Arg1018Pro)
NM_001123385.2(BCOR):c.3090_3091del (p.Glu1032fs)
NM_001123385.2(BCOR):c.3090_3093del (p.Arg1031fs) rs2147176806
NM_001123385.2(BCOR):c.3119A>T (p.Asp1040Val)
NM_001123385.2(BCOR):c.3153G>A (p.Trp1051Ter)
NM_001123385.2(BCOR):c.3165_3166delinsC (p.Lys1055fs)
NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs)
NM_001123385.2(BCOR):c.3225C>T (p.Asn1075=)
NM_001123385.2(BCOR):c.3226del (p.Glu1076fs) rs2147172268
NM_001123385.2(BCOR):c.3239-6C>T
NM_001123385.2(BCOR):c.3244dup (p.Tyr1082fs) rs1602131405
NM_001123385.2(BCOR):c.3246T>C (p.Tyr1082=)
NM_001123385.2(BCOR):c.3268del (p.Asp1090fs) rs1555915854
NM_001123385.2(BCOR):c.3286del (p.Glu1096fs) rs1602131169
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.3331C>G (p.Pro1111Ala)
NM_001123385.2(BCOR):c.3340G>A (p.Glu1114Lys)
NM_001123385.2(BCOR):c.3340G>C (p.Glu1114Gln) rs757991049
NM_001123385.2(BCOR):c.3346C>T (p.Pro1116Ser)
NM_001123385.2(BCOR):c.3355C>T (p.Gln1119Ter)
NM_001123385.2(BCOR):c.3386C>T (p.Thr1129Ile)
NM_001123385.2(BCOR):c.3388dup (p.Leu1130fs) rs1555915785
NM_001123385.2(BCOR):c.3392G>A (p.Arg1131Gln) rs758883383
NM_001123385.2(BCOR):c.3392G>T (p.Arg1131Leu) rs758883383
NM_001123385.2(BCOR):c.3404_3422del (p.Lys1135fs) rs2147077488
NM_001123385.2(BCOR):c.3407G>A (p.Arg1136His)
NM_001123385.2(BCOR):c.3410_3411del (p.Lys1137fs) rs1555915763
NM_001123385.2(BCOR):c.3437_3445del (p.Glu1146_Thr1148del) rs1555915744
NM_001123385.2(BCOR):c.3450G>A (p.Glu1150=)
NM_001123385.2(BCOR):c.3463del (p.Asp1155fs) rs1602130230
NM_001123385.2(BCOR):c.3467C>G (p.Pro1156Arg) rs1935083156
NM_001123385.2(BCOR):c.3467del (p.Pro1156fs) rs1602130188
NM_001123385.2(BCOR):c.3487C>T (p.Arg1163Ter) rs1935081157
NM_001123385.2(BCOR):c.3633G>A (p.Leu1211=)
NM_001123385.2(BCOR):c.3635_3638dup (p.Leu1214fs)
NM_001123385.2(BCOR):c.3648_3656del (p.Arg1217_Glu1219del)
NM_001123385.2(BCOR):c.3648_3933del286insGCT (p.Arg1217fs)
NM_001123385.2(BCOR):c.3649C>T (p.Arg1217Ter) rs1935034055
NM_001123385.2(BCOR):c.3693G>T (p.Arg1231=) rs2147054803
NM_001123385.2(BCOR):c.3747G>C (p.Gly1249=)
NM_001123385.2(BCOR):c.3758C>T (p.Thr1253Ile)
NM_001123385.2(BCOR):c.3784G>T (p.Ala1262Ser)
NM_001123385.2(BCOR):c.37A>G (p.Ser13Gly) rs1935888587
NM_001123385.2(BCOR):c.3829C>G (p.Pro1277Ala)
NM_001123385.2(BCOR):c.3834T>C (p.Ser1278=)
NM_001123385.2(BCOR):c.383C>T (p.Thr128Ile)
NM_001123385.2(BCOR):c.3847+7G>A rs142686469
NM_001123385.2(BCOR):c.3847+7G>C rs142686469
NM_001123385.2(BCOR):c.3848-20G>A
NM_001123385.2(BCOR):c.3848-35T>C rs3810694
NM_001123385.2(BCOR):c.3871C>T (p.Pro1291Ser) rs1934982126
NM_001123385.2(BCOR):c.387C>A (p.Pro129=)
NM_001123385.2(BCOR):c.387C>G (p.Pro129=) rs769854762
NM_001123385.2(BCOR):c.3888_3889del (p.Ser1297fs)
NM_001123385.2(BCOR):c.3893C>T (p.Ser1298Phe)
NM_001123385.2(BCOR):c.3897C>A (p.Thr1299=)
NM_001123385.2(BCOR):c.3917A>T (p.Gln1306Leu)
NM_001123385.2(BCOR):c.3936A>G (p.Ala1312=)
NM_001123385.2(BCOR):c.3948G>C (p.Arg1316Ser)
NM_001123385.2(BCOR):c.3978A>G (p.Glu1326=)
NM_001123385.2(BCOR):c.3983del (p.Gln1328fs) rs1602124517
NM_001123385.2(BCOR):c.4009G>A (p.Glu1337Lys)
NM_001123385.2(BCOR):c.404C>G (p.Ser135Cys)
NM_001123385.2(BCOR):c.4076G>T (p.Gly1359Val) rs2147031295
NM_001123385.2(BCOR):c.4095C>G (p.Thr1365=)
NM_001123385.2(BCOR):c.4111C>T (p.Gln1371Ter) rs863224850
NM_001123385.2(BCOR):c.4123C>T (p.Arg1375Trp)
NM_001123385.2(BCOR):c.4140_4141del (p.Glu1382fs)
NM_001123385.2(BCOR):c.4165G>A (p.Asp1389Asn)
NM_001123385.2(BCOR):c.4173+13C>A rs2147028349
NM_001123385.2(BCOR):c.4173+8T>C
NM_001123385.2(BCOR):c.4174-1G>T rs1569146193
NM_001123385.2(BCOR):c.4218C>T (p.Asp1406=) rs2147014917
NM_001123385.2(BCOR):c.4240C>G (p.Gln1414Glu) rs1602122136
NM_001123385.2(BCOR):c.4262G>A (p.Arg1421His)
NM_001123385.2(BCOR):c.4281A>T (p.Pro1427=)
NM_001123385.2(BCOR):c.4304_4308del (p.Pro1435fs) rs730880034
NM_001123385.2(BCOR):c.4327A>G (p.Thr1443Ala)
NM_001123385.2(BCOR):c.4328_4329del (p.Thr1443fs) rs2147004911
NM_001123385.2(BCOR):c.4406_4412del (p.Arg1469fs)
NM_001123385.2(BCOR):c.4413C>G (p.Ala1471=) rs1602121380
NM_001123385.2(BCOR):c.4428+16C>T rs753776453
NM_001123385.2(BCOR):c.4497C>A (p.Cys1499Ter) rs766620661
NM_001123385.2(BCOR):c.4533C>T (p.Asn1511=)
NM_001123385.2(BCOR):c.4540C>T (p.Arg1514Ter) rs199676230
NM_001123385.2(BCOR):c.4550T>C (p.Leu1517Pro) rs765759611
NM_001123385.2(BCOR):c.4551del (p.Glu1518fs) rs2146922561
NM_001123385.2(BCOR):c.4560C>G (p.Gly1520=) rs375830184
NM_001123385.2(BCOR):c.4560C>T (p.Gly1520=)
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.4711del (p.His1571fs) rs1934541230
NM_001123385.2(BCOR):c.4741+8A>G
NM_001123385.2(BCOR):c.4742-141_4977-665del
NM_001123385.2(BCOR):c.4742-2A>G
NM_001123385.2(BCOR):c.4760A>G (p.Gln1587Arg)
NM_001123385.2(BCOR):c.4770TGA[2] (p.Asp1593del) rs2146871024
NM_001123385.2(BCOR):c.4936dup (p.Leu1646fs) rs748074364
NM_001123385.2(BCOR):c.4943C>T (p.Pro1648Leu)
NM_001123385.2(BCOR):c.4976+17T>C
NM_001123385.2(BCOR):c.4977-4_4977-2delinsTTG
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) rs755680047
NM_001123385.2(BCOR):c.5000C>T (p.Ser1667Leu)
NM_001123385.2(BCOR):c.5003_5005del (p.Asp1668del) rs2146829974
NM_001123385.2(BCOR):c.5029T>C (p.Ser1677Pro)
NM_001123385.2(BCOR):c.5144C>T (p.Ala1715Val)
NM_001123385.2(BCOR):c.5157A>T (p.Glu1719Asp) rs2146825751
NM_001123385.2(BCOR):c.51C>G (p.Ser17Arg) rs771428828
NM_001123385.2(BCOR):c.59T>C (p.Val20Ala)
NM_001123385.2(BCOR):c.86+8C>G rs753791832
NM_001123385.2(BCOR):c.87-19G>A
NM_017745.5(BCOR):c.-292-?_*863+?dup

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