ClinVar Miner

List of variants reported as pathogenic for Cerebrooculofacioskeletal syndrome 1 by OMIM

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Total variants: 5

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HGVS	dbSNP
ERCC6, 2-BP DEL, 3794AA
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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