ClinVar Miner

List of variants reported as pathogenic for Cerebrooculofacioskeletal syndrome 3 by OMIM

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs) rs760232640
NM_000123.4(ERCC5):c.2775del (p.Gly926fs) rs2140538834

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