ClinVar Miner

List of variants in gene BCOR reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 27
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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.3413T>C (p.Val1138Ala) rs145327925 0.00090
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014 0.00082
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.3446C>T (p.Ala1149Val) rs368780561 0.00011
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=) rs753786462 0.00011
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.4173+5C>T rs398124314 0.00003
NM_001123385.2(BCOR):c.86+9G>A rs794727292 0.00002
NM_001123385.2(BCOR):c.3956C>T (p.Ala1319Val) rs758900726 0.00001
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001123385.2(BCOR):c.3267_3270dup (p.Pro1091Ter) rs1555915852
NM_001123385.2(BCOR):c.3468del (p.Leu1157fs) rs398124313
NM_001123385.2(BCOR):c.3847+7G>A rs142686469
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs) rs886042842
NM_001123385.2(BCOR):c.4443C>T (p.Tyr1481=) rs1555913852
NM_001123385.2(BCOR):c.4862dup (p.Gly1622fs) rs797044647

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