ClinVar Miner

List of variants in gene BCOR reported as uncertain significance for not provided

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Gene type:
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014 0.00082
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.3446C>T (p.Ala1149Val) rs368780561 0.00011
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=) rs753786462 0.00011
NM_001123385.2(BCOR):c.5134G>A (p.Asp1712Asn) rs148195891 0.00008
NM_001123385.2(BCOR):c.4960G>C (p.Val1654Leu) rs138012019 0.00006
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.4258G>A (p.Asp1420Asn) rs886042813 0.00005
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.4202C>T (p.Pro1401Leu) rs201959477 0.00004
NM_001123385.2(BCOR):c.2287C>T (p.Arg763Trp) rs780348147 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.2519C>T (p.Pro840Leu) rs904253464 0.00001
NM_001123385.2(BCOR):c.2991A>G (p.Ala997=) rs150387371 0.00001
NM_001123385.2(BCOR):c.3956C>T (p.Ala1319Val) rs758900726 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:39697946-39914660)x3
NM_001123385.2(BCOR):c.1775C>A (p.Pro592Gln) rs765667331
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.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.2516A>G (p.Lys839Arg)
NM_001123385.2(BCOR):c.2581C>T (p.Arg861Cys)
NM_001123385.2(BCOR):c.2738C>A (p.Thr913Asn) rs2147203630
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.3053G>A (p.Arg1018His) rs751015767
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.3392G>T (p.Arg1131Leu) rs758883383
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.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.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.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.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.4522G>A (p.Gly1508Ser)
NM_001123385.2(BCOR):c.4694C>T (p.Thr1565Ile)
NM_001123385.2(BCOR):c.4778_4780del (p.Asp1593del)
NM_001123385.2(BCOR):c.4852G>T (p.Ala1618Ser)
NM_001123385.2(BCOR):c.4943C>G (p.Pro1648Arg)
NM_001123385.2(BCOR):c.5035A>C (p.Ile1679Leu)
NM_001123385.2(BCOR):c.5174A>C (p.Asp1725Ala) rs1057522572

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