ClinVar Miner

List of variants in gene combination BIVM-ERCC5, ERCC5 reported as pathogenic for Cerebrooculofacioskeletal syndrome 3

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 1

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HGVS	dbSNP
NM_000123.3(ERCC5):c.2766dup (p.Leu923fs)	rs760232640

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