ClinVar Miner

List of variants in gene BCOR reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_001123385.2(BCOR):c.1232G>A (p.Arg411Gln) rs754579483
NM_001123385.2(BCOR):c.1260_1261inv (p.Gly421Ser)
NM_001123385.2(BCOR):c.1575G>A (p.Met525Ile) rs1602152534
NM_001123385.2(BCOR):c.1601G>C (p.Trp534Ser)
NM_001123385.2(BCOR):c.1723A>G (p.Asn575Asp) rs1602151728
NM_001123385.2(BCOR):c.1780G>A (p.Val594Ile) rs764515953
NM_001123385.2(BCOR):c.2014T>G (p.Ser672Ala)
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001123385.2(BCOR):c.2166G>C (p.Leu722Phe) rs1041380012
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val) rs768557634
NM_001123385.2(BCOR):c.2213C>T (p.Thr738Ile)
NM_001123385.2(BCOR):c.2419G>C (p.Asp807His) rs1555918075
NM_001123385.2(BCOR):c.2520C>G (p.Pro840=) rs781016038
NM_001123385.2(BCOR):c.2560G>A (p.Ala854Thr) rs527732438
NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe) rs587778093
NM_001123385.2(BCOR):c.3339C>T (p.Ser1113=) rs1226506629
NM_001123385.2(BCOR):c.3467C>G (p.Pro1156Arg)
NM_001123385.2(BCOR):c.37A>G (p.Ser13Gly)
NM_001123385.2(BCOR):c.4013A>G (p.Glu1338Gly) rs770784599
NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu) rs1033092772
NM_001123385.2(BCOR):c.4679C>T (p.Thr1560Met)
NM_001123385.2(BCOR):c.479T>C (p.Val160Ala) rs1459702445
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) rs755680047
NM_001123385.2(BCOR):c.520G>A (p.Asp174Asn) rs933611569
NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro) rs587778100
NM_001123385.2(BCOR):c.599C>T (p.Thr200Met) rs777945715
NM_001123385.2(BCOR):c.724G>A (p.Glu242Lys)
NM_001123385.2(BCOR):c.779C>G (p.Ser260Cys)
NM_001123385.2(BCOR):c.863C>T (p.Pro288Leu)
NM_001123385.2(BCOR):c.938C>T (p.Pro313Leu)
NM_017745.5(BCOR):c.-292-?_*863+?dup

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