ClinVar Miner

List of variants reported as likely pathogenic for Oculofaciocardiodental syndrome

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(?_40052108)_(40077930_?)del
NM_001123385.2(BCOR):c.1526G>A (p.Trp509Ter)
NM_001123385.2(BCOR):c.2449del (p.Thr817fs) rs1602148660
NM_001123385.2(BCOR):c.3404_3422del (p.Lys1135fs) rs2147077488
NM_001123385.2(BCOR):c.3437_3445del (p.Glu1146_Thr1148del) rs1555915744
NM_001123385.2(BCOR):c.3635_3638dup (p.Leu1214fs)
NM_001123385.2(BCOR):c.3888_3889del (p.Ser1297fs)
NM_001123385.2(BCOR):c.4111C>T (p.Gln1371Ter) rs863224850
NM_001123385.2(BCOR):c.4742-2A>G
NM_001123385.2(BCOR):c.4977-4_4977-2delinsTTG
NM_001123385.2(BCOR):c.526C>T (p.Gln176Ter)

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