ClinVar Miner

List of variants in gene BCOR studied for not provided

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Gene type:
ClinVar version:
Total variants: 157
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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.166-55G>A rs6610384 0.22165
NM_001123385.2(BCOR):c.4741+317T>C rs6609049 0.15390
NM_001123385.2(BCOR):c.3503-158C>A rs5963155 0.13952
NM_001123385.2(BCOR):c.3502+127G>T rs5963731 0.09813
NM_001123385.2(BCOR):c.4173+139G>T rs55700604 0.09430
NM_001123385.2(BCOR):c.4742-69G>A rs112054628 0.07508
NM_001123385.2(BCOR):c.1791C>T (p.His597=) rs144606152 0.03194
NM_001123385.2(BCOR):c.87-202C>T rs111448219 0.02845
NM_001123385.2(BCOR):c.4976+69G>A rs148923231 0.02072
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.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.4488A>C (p.Ala1496=) rs138741225 0.00076
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.2525T>C (p.Val842Ala) rs143119333 0.00032
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.4765C>T (p.Arg1589Cys) rs754643148 0.00015
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.4779C>T (p.Asp1593=) rs776232139 0.00008
NM_001123385.2(BCOR):c.5134G>A (p.Asp1712Asn) rs148195891 0.00008
NM_001123385.2(BCOR):c.5193C>T (p.Asn1731=) rs766578072 0.00008
NM_001123385.2(BCOR):c.4014A>C (p.Glu1338Asp) rs142866108 0.00006
NM_001123385.2(BCOR):c.4960G>C (p.Val1654Leu) rs138012019 0.00006
NM_001123385.2(BCOR):c.1645G>A (p.Gly549Ser) rs183680206 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.3711G>A (p.Val1237=) rs753256966 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.179C>T (p.Thr60Met) rs202121665 0.00004
NM_001123385.2(BCOR):c.2008C>T (p.Pro670Ser) rs148886271 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.4202C>T (p.Pro1401Leu) rs201959477 0.00004
NM_001123385.2(BCOR):c.2287C>T (p.Arg763Trp) rs780348147 0.00003
NM_001123385.2(BCOR):c.3138C>T (p.Phe1046=) rs201819559 0.00003
NM_001123385.2(BCOR):c.4062C>T (p.Ser1354=) rs747055096 0.00003
NM_001123385.2(BCOR):c.4173+5C>T rs398124314 0.00003
NM_001123385.2(BCOR):c.163G>A (p.Val55Met) rs142564611 0.00002
NM_001123385.2(BCOR):c.221G>A (p.Arg74His) rs1434826738 0.00002
NM_001123385.2(BCOR):c.3941C>A (p.Ala1314Asp) rs754985350 0.00002
NM_001123385.2(BCOR):c.5062G>C (p.Glu1688Gln) rs1368427807 0.00002
NM_001123385.2(BCOR):c.86+9G>A rs794727292 0.00002
NM_001123385.2(BCOR):c.1880A>G (p.Lys627Arg) rs1057522664 0.00001
NM_001123385.2(BCOR):c.1952T>C (p.Ile651Thr) rs746064364 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.2519C>T (p.Pro840Leu) rs904253464 0.00001
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu) rs121434618 0.00001
NM_001123385.2(BCOR):c.2991A>G (p.Ala997=) rs150387371 0.00001
NM_001123385.2(BCOR):c.3349G>A (p.Ala1117Thr) rs374493655 0.00001
NM_001123385.2(BCOR):c.3956C>T (p.Ala1319Val) rs758900726 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.4541G>A (p.Arg1514Gln) rs1187192426 0.00001
GRCh37/hg19 Xp11.4(chrX:39349074-40119639)x2
GRCh37/hg19 Xp11.4(chrX:39645568-40132052)x3
GRCh37/hg19 Xp11.4(chrX:39697946-39914660)x3
GRCh37/hg19 Xp11.4(chrX:39911362-39937182)x1
GRCh37/hg19 Xp11.4(chrX:39952515-40238078)x1
NM_001123385.2(BCOR):c.*299_*300dup rs35289701
NM_001123385.2(BCOR):c.1680A>G (p.Ser560=) rs917209632
NM_001123385.2(BCOR):c.1775C>A (p.Pro592Gln) rs765667331
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.1782_1787delinsGTG (p.Ile595_Gln596delinsTrp)
NM_001123385.2(BCOR):c.2008C>A (p.Pro670Thr)
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001123385.2(BCOR):c.2199G>A (p.Thr733=)
NM_001123385.2(BCOR):c.2275A>C (p.Thr759Pro)
NM_001123385.2(BCOR):c.2305del (p.Glu769fs) rs1569155966
NM_001123385.2(BCOR):c.2416G>A (p.Val806Ile) rs746216348
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) rs1569155643
NM_001123385.2(BCOR):c.2428C>T (p.Arg810Ter) rs1555918056
NM_001123385.2(BCOR):c.2488_2489del (p.Ser830fs) rs1555918014
NM_001123385.2(BCOR):c.2516A>G (p.Lys839Arg)
NM_001123385.2(BCOR):c.2581C>T (p.Arg861Cys)
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.2738C>A (p.Thr913Asn) rs2147203630
NM_001123385.2(BCOR):c.2807C>A (p.Thr936Asn)
NM_001123385.2(BCOR):c.2851G>C (p.Asp951His) rs1935525202
NM_001123385.2(BCOR):c.2903A>G (p.Asn968Ser) rs2147200517
NM_001123385.2(BCOR):c.2978G>A (p.Arg993Gln) rs756356120
NM_001123385.2(BCOR):c.3052-22del rs374448325
NM_001123385.2(BCOR):c.3052-34dup rs374448325
NM_001123385.2(BCOR):c.3053G>A (p.Arg1018His) rs751015767
NM_001123385.2(BCOR):c.3079G>T (p.Glu1027Ter) rs1569153948
NM_001123385.2(BCOR):c.3108dup (p.Ala1037fs) rs886041725
NM_001123385.2(BCOR):c.3155A>C (p.Glu1052Ala)
NM_001123385.2(BCOR):c.3193G>A (p.Val1065Ile) rs1555917318
NM_001123385.2(BCOR):c.3238T>C (p.Cys1080Arg) rs1602143995
NM_001123385.2(BCOR):c.3267_3270dup (p.Pro1091Ter) rs1555915852
NM_001123385.2(BCOR):c.3392G>T (p.Arg1131Leu) rs758883383
NM_001123385.2(BCOR):c.3417A>C (p.Ser1139=) rs1602130461
NM_001123385.2(BCOR):c.3468del (p.Leu1157fs) rs398124313
NM_001123385.2(BCOR):c.3490C>T (p.Arg1164Ter) rs1935080744
NM_001123385.2(BCOR):c.3503-1G>C rs1935042036
NM_001123385.2(BCOR):c.3560A>G (p.His1187Arg)
NM_001123385.2(BCOR):c.3568G>A (p.Glu1190Lys) rs1555915488
NM_001123385.2(BCOR):c.3626G>A (p.Arg1209His) rs1422527923
NM_001123385.2(BCOR):c.3646_3647del (p.Glu1216fs) rs1131691389
NM_001123385.2(BCOR):c.3649C>T (p.Arg1217Ter) rs1935034055
NM_001123385.2(BCOR):c.3664G>T (p.Val1222Leu)
NM_001123385.2(BCOR):c.3712_3729del (p.Thr1238_Pro1243del) rs1569148032
NM_001123385.2(BCOR):c.37A>G (p.Ser13Gly) rs1935888587
NM_001123385.2(BCOR):c.3847+7G>A rs142686469
NM_001123385.2(BCOR):c.3847+7G>C rs142686469
NM_001123385.2(BCOR):c.3848-32G>C rs763391206
NM_001123385.2(BCOR):c.3848-35T>C rs3810694
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs) rs886042842
NM_001123385.2(BCOR):c.3933C>G (p.Cys1311Trp) rs781293725
NM_001123385.2(BCOR):c.3944C>G (p.Ser1315Cys)
NM_001123385.2(BCOR):c.3958A>G (p.Lys1320Glu) rs2147034066
NM_001123385.2(BCOR):c.4017G>C (p.Glu1339Asp)
NM_001123385.2(BCOR):c.4173+127T>G rs2147025624
NM_001123385.2(BCOR):c.4173+2T>C rs2147028921
NM_001123385.2(BCOR):c.4345A>G (p.Met1449Val) rs774520249
NM_001123385.2(BCOR):c.4349C>T (p.Pro1450Leu) rs1212276461
NM_001123385.2(BCOR):c.4376A>G (p.Asn1459Ser)
NM_001123385.2(BCOR):c.4405C>T (p.Arg1469Trp)
NM_001123385.2(BCOR):c.4429-35T>C rs2146925614
NM_001123385.2(BCOR):c.4443C>T (p.Tyr1481=) rs1555913852
NM_001123385.2(BCOR):c.4468G>A (p.Val1490Ile)
NM_001123385.2(BCOR):c.4478G>A (p.Arg1493Gln)
NM_001123385.2(BCOR):c.4500_4504del (p.Ala1500_Leu1501insTer)
NM_001123385.2(BCOR):c.4522G>A (p.Gly1508Ser)
NM_001123385.2(BCOR):c.4540C>T (p.Arg1514Ter) rs199676230
NM_001123385.2(BCOR):c.4596-1G>A rs1934549221
NM_001123385.2(BCOR):c.4694C>T (p.Thr1565Ile)
NM_001123385.2(BCOR):c.4742-167del rs147324206
NM_001123385.2(BCOR):c.4742-184dup rs147324206
NM_001123385.2(BCOR):c.4778_4780del (p.Asp1593del)
NM_001123385.2(BCOR):c.4807A>C (p.Ser1603Arg) rs1555913327
NM_001123385.2(BCOR):c.4852G>T (p.Ala1618Ser)
NM_001123385.2(BCOR):c.4862dup (p.Gly1622fs) rs797044647
NM_001123385.2(BCOR):c.4905T>C (p.Asp1635=)
NM_001123385.2(BCOR):c.4936dup (p.Leu1646fs) rs748074364
NM_001123385.2(BCOR):c.4943C>G (p.Pro1648Arg)
NM_001123385.2(BCOR):c.4977-182C>A rs5917929
NM_001123385.2(BCOR):c.5035A>C (p.Ile1679Leu)
NM_001123385.2(BCOR):c.5052T>G (p.Phe1684Leu)
NM_001123385.2(BCOR):c.5174A>C (p.Asp1725Ala) rs1057522572

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