ClinVar Miner

List of variants studied for Cerebrooculofacioskeletal syndrome 3 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)
NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu) rs573839835
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs) rs760232640

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