ClinVar Miner

List of variants in gene BCOR studied for X-linked disease

Included ClinVar conditions (313):
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Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
BCOR, 60-KB DEL
BCOR, EX9-15DEL
NC_000023.11:g.(?_40051246)_(40075180_?)del
NC_000023.11:g.(?_40052089)_(40077949_?)del
NC_000023.11:g.(?_40052108)_(40077930_?)del
NC_000023.11:g.(?_40057155)_(40077969_?)del
NC_000023.11:g.(?_40070953)_(40077949_?)dup
NM_001123385.2(BCOR):c.1232G>A (p.Arg411Gln) rs754579483
NM_001123385.2(BCOR):c.1257A>G (p.Lys419=) rs531585800
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933
NM_001123385.2(BCOR):c.1260_1261inv (p.Gly421Ser)
NM_001123385.2(BCOR):c.1287G>A (p.Lys429=) rs775664343
NM_001123385.2(BCOR):c.1391C>T (p.Thr464Met) rs749999323
NM_001123385.2(BCOR):c.1575G>A (p.Met525Ile) rs1602152534
NM_001123385.2(BCOR):c.1601G>C (p.Trp534Ser)
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) rs17145653
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618
NM_001123385.2(BCOR):c.1708G>A (p.Ala570Thr) rs748813798
NM_001123385.2(BCOR):c.1723A>G (p.Asn575Asp) rs1602151728
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.1780G>A (p.Val594Ile) rs764515953
NM_001123385.2(BCOR):c.1791C>T (p.His597=) rs144606152
NM_001123385.2(BCOR):c.1848C>T (p.Gly616=) rs758579970
NM_001123385.2(BCOR):c.1902A>G (p.Pro634=) rs963000229
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001123385.2(BCOR):c.2129G>A (p.Arg710His) rs200732803
NM_001123385.2(BCOR):c.2166G>C (p.Leu722Phe) rs1041380012
NM_001123385.2(BCOR):c.2199G>T (p.Thr733=) rs140693978
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val) rs768557634
NM_001123385.2(BCOR):c.2213C>T (p.Thr738Ile)
NM_001123385.2(BCOR):c.223A>T (p.Thr75Ser) rs61744882
NM_001123385.2(BCOR):c.2288G>T (p.Arg763Leu) rs139011455
NM_001123385.2(BCOR):c.2419G>C (p.Asp807His) rs1555918075
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) rs1569155643
NM_001123385.2(BCOR):c.2449del (p.Thr817fs) rs1602148660
NM_001123385.2(BCOR):c.2484_2485AG[2] (p.Ser830fs) rs1555918014
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014
NM_001123385.2(BCOR):c.2514del (p.Lys839fs)
NM_001123385.2(BCOR):c.2520C>G (p.Pro840=) rs781016038
NM_001123385.2(BCOR):c.2525T>C (p.Val842Ala) rs143119333
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu) rs121434618
NM_001123385.2(BCOR):c.2560G>A (p.Ala854Thr) rs527732438
NM_001123385.2(BCOR):c.2613del (p.Phe871fs) rs730880013
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.2691G>C (p.Ser897=) rs3810693
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.2916C>T (p.Tyr972=) rs370067698
NM_001123385.2(BCOR):c.2926C>T (p.Arg976Ter) rs121434619
NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe) rs587778093
NM_001123385.2(BCOR):c.300A>G (p.Lys100=) rs775494265
NM_001123385.2(BCOR):c.3036C>T (p.Pro1012=) rs190344757
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys) rs202065982
NM_001123385.2(BCOR):c.3244dup (p.Tyr1082fs) rs1602131405
NM_001123385.2(BCOR):c.3268del (p.Asp1090fs) rs1555915854
NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys) rs144736705
NM_001123385.2(BCOR):c.3286del (p.Glu1096fs) rs1602131169
NM_001123385.2(BCOR):c.3339C>T (p.Ser1113=) rs1226506629
NM_001123385.2(BCOR):c.3366G>A (p.Ser1122=) rs374359497
NM_001123385.2(BCOR):c.3378C>T (p.His1126=) rs137923016
NM_001123385.2(BCOR):c.3388dup (p.Leu1130fs) rs1555915785
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.3463del (p.Asp1155fs) rs1602130230
NM_001123385.2(BCOR):c.3467C>G (p.Pro1156Arg)
NM_001123385.2(BCOR):c.3467del (p.Pro1156fs) rs1602130188
NM_001123385.2(BCOR):c.347C>T (p.Ser116Leu) rs775994643
NM_001123385.2(BCOR):c.3491G>A (p.Arg1164Gln) rs769057299
NM_001123385.2(BCOR):c.3669G>A (p.Ser1223=) rs372032523
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) rs753256966
NM_001123385.2(BCOR):c.3802A>G (p.Arg1268Gly) rs140897453
NM_001123385.2(BCOR):c.3847+7G>A rs142686469
NM_001123385.2(BCOR):c.3847+7G>C rs142686469
NM_001123385.2(BCOR):c.3950C>T (p.Pro1317Leu) rs780412607
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg) rs187172641
NM_001123385.2(BCOR):c.3983del (p.Gln1328fs) rs1602124517
NM_001123385.2(BCOR):c.4013A>G (p.Glu1338Gly) rs770784599
NM_001123385.2(BCOR):c.408C>T (p.Ala136=) rs139802143
NM_001123385.2(BCOR):c.4111C>T (p.Gln1371Ter) rs863224850
NM_001123385.2(BCOR):c.4174-1G>T rs1569146193
NM_001123385.2(BCOR):c.4304_4308del (p.Pro1435fs) rs730880034
NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu) rs1033092772
NM_001123385.2(BCOR):c.453A>G (p.Thr151=) rs1450768568
NM_001123385.2(BCOR):c.4620C>T (p.Asn1540=) rs370429826
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=) rs146007249
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) rs142595337
NM_001123385.2(BCOR):c.4742-141_4977-665del
NM_001123385.2(BCOR):c.479T>C (p.Val160Ala) rs1459702445
NM_001123385.2(BCOR):c.4824A>C (p.Pro1608=) rs760093247
NM_001123385.2(BCOR):c.482C>T (p.Ala161Val) rs142236686
NM_001123385.2(BCOR):c.4931C>T (p.Thr1644Ile) rs780610123
NM_001123385.2(BCOR):c.4977-4G>T rs5963725
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) rs755680047
NM_001123385.2(BCOR):c.5037A>T (p.Ile1679=) rs113588421
NM_001123385.2(BCOR):c.5190G>A (p.Thr1730=) rs375139386
NM_001123385.2(BCOR):c.520G>A (p.Asp174Asn) rs933611569
NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro) rs587778100
NM_001123385.2(BCOR):c.599C>T (p.Thr200Met) rs777945715
NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu) rs143697110
NM_001123385.2(BCOR):c.711C>T (p.Val237=) rs727503827
NM_001123385.2(BCOR):c.724G>A (p.Glu242Lys)
NM_001123385.2(BCOR):c.786_790dup (p.Pro264fs)
NM_001123385.2(BCOR):c.863C>T (p.Pro288Leu)
NM_001123385.2(BCOR):c.946C>T (p.Pro316Ser) rs200052076
NM_001123385.2(BCOR):c.978G>A (p.Pro326=) rs751650335
NM_001123385.2(BCOR):c.982del (p.Asp328fs)
NM_017745.5(BCOR):c.-292-?_*863+?dup

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