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

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.1068del (p.Ser357fs)	rs1325131028
NM_000123.4(ERCC5):c.2705del (p.Asn902fs)	rs759551120
NM_000123.4(ERCC5):c.480del (p.Asp161fs)	rs2501542886

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