ClinVar Miner

List of variants reported as pathogenic for Cerebrooculofacioskeletal syndrome 1

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Total variants: 6
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ERCC6, 2-BP DEL, 3794AA
NM_000124.4(ERCC6):c.1004del (p.Leu335fs) rs1554793305
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val) rs1590413260
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro) rs121917905
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838

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