ClinVar Miner

List of variants in gene BCOR reported by Ambry Genetics

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Gene type:
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Total variants: 51
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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.3533G>A (p.Ser1178Asn) rs375639152 0.00076
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) rs142595337 0.00043
NM_001123385.2(BCOR):c.242G>A (p.Gly81Glu) rs144450053 0.00037
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg) rs187172641 0.00027
NM_001123385.2(BCOR):c.2124C>T (p.Thr708=) rs749386912 0.00014
NM_001123385.2(BCOR):c.365T>C (p.Met122Thr) rs369585835 0.00014
NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys) rs144736705 0.00013
NM_001123385.2(BCOR):c.4931C>T (p.Thr1644Ile) rs780610123 0.00009
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.2954A>T (p.Tyr985Phe) rs587778093 0.00005
NM_001123385.2(BCOR):c.4258G>A (p.Asp1420Asn) rs886042813 0.00005
NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His) rs372913827 0.00002
NM_001123385.2(BCOR):c.3349G>A (p.Ala1117Thr) rs374493655 0.00001
NM_001123385.2(BCOR):c.4824A>C (p.Pro1608=) rs760093247 0.00001
NM_001123385.2(BCOR):c.4858C>G (p.Pro1620Ala) rs759345634 0.00001
NM_001123385.2(BCOR):c.4903G>A (p.Asp1635Asn) rs367883774 0.00001
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.2038_2040dup (p.Tyr680_Pro681insTyr)
NM_001123385.2(BCOR):c.2140G>C (p.Val714Leu)
NM_001123385.2(BCOR):c.2275A>C (p.Thr759Pro)
NM_001123385.2(BCOR):c.2333A>G (p.Asp778Gly)
NM_001123385.2(BCOR):c.2396A>G (p.Lys799Arg)
NM_001123385.2(BCOR):c.2407C>T (p.Leu803Phe)
NM_001123385.2(BCOR):c.2422C>T (p.Leu808Phe)
NM_001123385.2(BCOR):c.2428C>T (p.Arg810Ter) rs1555918056
NM_001123385.2(BCOR):c.2524G>C (p.Val842Leu)
NM_001123385.2(BCOR):c.2551G>T (p.Asp851Tyr)
NM_001123385.2(BCOR):c.2647G>A (p.Val883Ile) rs909942650
NM_001123385.2(BCOR):c.2654C>T (p.Ala885Val)
NM_001123385.2(BCOR):c.2764A>G (p.Lys922Glu)
NM_001123385.2(BCOR):c.3305T>G (p.Val1102Gly) rs111622737
NM_001123385.2(BCOR):c.3346C>A (p.Pro1116Thr)
NM_001123385.2(BCOR):c.3485G>A (p.Arg1162His)
NM_001123385.2(BCOR):c.3560A>G (p.His1187Arg)
NM_001123385.2(BCOR):c.3689G>C (p.Gly1230Ala)
NM_001123385.2(BCOR):c.3782G>C (p.Arg1261Thr)
NM_001123385.2(BCOR):c.3836A>G (p.Asp1279Gly)
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs) rs886042842
NM_001123385.2(BCOR):c.3919G>C (p.Ala1307Pro)
NM_001123385.2(BCOR):c.3937C>G (p.Pro1313Ala)
NM_001123385.2(BCOR):c.4391A>G (p.Glu1464Gly)
NM_001123385.2(BCOR):c.4822C>A (p.Pro1608Thr)
NM_001123385.2(BCOR):c.4943C>T (p.Pro1648Leu)
NM_001123385.2(BCOR):c.4972C>T (p.Gln1658Ter) rs1555913206
NM_001123385.2(BCOR):c.5152C>T (p.Pro1718Ser)
NM_001123385.2(BCOR):c.51C>G (p.Ser17Arg) rs771428828

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