ClinVar Miner

List of variants reported as pathogenic for Oculofaciocardiodental syndrome by OMIM

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu) rs121434618 0.00001
NC_000023.11:g.(40012195_40051245)_(40063072_40063607)del
NC_000023.11:g.(?_40051246)_(40075180_?)del
NG_008880.1:g.(5324_84863)_?del
NM_001123385.2(BCOR):c.2488_2489del (p.Ser830fs) rs1555918014
NM_001123385.2(BCOR):c.2613del (p.Phe871fs) rs730880013
NM_001123385.2(BCOR):c.2926C>T (p.Arg976Ter) rs121434619
NM_001123385.2(BCOR):c.3286del (p.Glu1096fs) rs1602131169
NM_001123385.2(BCOR):c.3983del (p.Gln1328fs) rs1602124517
NM_001123385.2(BCOR):c.4174-1G>T rs1569146193
NM_001123385.2(BCOR):c.4304_4308del (p.Pro1435fs) rs730880034
NM_001123385.2(BCOR):c.4742-141_4977-665del

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