ClinVar Miner

List of variants reported as pathogenic for Cerebrooculofacioskeletal syndrome 1 by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)	rs185142838	0.00025
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)	rs121917904	0.00004
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	rs1439211546

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