ClinVar Miner

List of variants in gene BCOR reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 44
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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.2424T>C (p.Leu808=) rs142968718 0.00085
NM_001123385.2(BCOR):c.2423T>A (p.Leu808His) rs151125150 0.00083
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.2035G>A (p.Val679Ile) rs144722432 0.00053
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) rs142595337 0.00043
NM_001123385.2(BCOR):c.3378C>T (p.His1126=) rs137923016 0.00030
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.3491G>A (p.Arg1164Gln) rs769057299 0.00006
NM_001123385.2(BCOR):c.4890C>T (p.Asp1630=) rs750330961 0.00006
NM_001123385.2(BCOR):c.1620G>A (p.Arg540=) rs144347073 0.00005
NM_001123385.2(BCOR):c.4152C>T (p.Tyr1384=) rs750973796 0.00005
NM_001123385.2(BCOR):c.179C>T (p.Thr60Met) rs202121665 0.00004
NM_001123385.2(BCOR):c.1651G>A (p.Asp551Asn) rs372463512 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.1707C>T (p.Ser569=) rs1438078198 0.00001
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.1779C>T (p.Ser593=)
NM_001123385.2(BCOR):c.2150A>G (p.Gln717Arg)
NM_001123385.2(BCOR):c.2172G>C (p.Met724Ile)
NM_001123385.2(BCOR):c.2188A>T (p.Ile730Leu)
NM_001123385.2(BCOR):c.2288G>T (p.Arg763Leu) rs139011455
NM_001123385.2(BCOR):c.2691G>C (p.Ser897=) rs3810693
NM_001123385.2(BCOR):c.3120C>T (p.Asp1040=)
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.3340G>A (p.Glu1114Lys)
NM_001123385.2(BCOR):c.3348C>T (p.Pro1116=)
NM_001123385.2(BCOR):c.3410_3411del (p.Lys1137fs) rs1555915763
NM_001123385.2(BCOR):c.3784G>T (p.Ala1262Ser)
NM_001123385.2(BCOR):c.3801C>G (p.Asn1267Lys)
NM_001123385.2(BCOR):c.3893C>T (p.Ser1298Phe)
NM_001123385.2(BCOR):c.4281A>T (p.Pro1427=)
NM_001123385.2(BCOR):c.4824del (p.Asp1609fs)
NM_001123385.2(BCOR):c.4891G>A (p.Asp1631Asn)
NM_001123385.2(BCOR):c.4908G>A (p.Val1636=)
NM_001123385.2(BCOR):c.5014A>G (p.Lys1672Glu)
NM_001123385.2(BCOR):c.86+6T>C

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