List of variants in gene ERCC6 reported as likely pathogenic for Cerebrooculofacioskeletal syndrome 1

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro)	rs1057518910
NM_000124.4(ERCC6):c.1684A>T (p.Arg562Trp)	rs777252763
NM_000124.4(ERCC6):c.1738C>T (p.Gln580Ter)
NM_000124.4(ERCC6):c.3778+1G>A	rs1554875114

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