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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.1096C>T (p.Arg366Ter)	rs966111552	0.00003
NM_000123.4(ERCC5):c.120del (p.Gly41fs)
NM_000123.4(ERCC5):c.1855C>T (p.Gln619Ter)	rs1882701423
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs)	rs760232640
NM_000123.4(ERCC5):c.2775del (p.Gly926fs)	rs2140538834

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