List of variants in gene combination ERCC6, LOC130003806 reported as uncertain significance for Cerebrooculofacioskeletal syndrome 1

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.-22G>A	rs4253006	0.00181
NM_000124.4(ERCC6):c.-65G>A	rs1318032118	0.00004
NM_000124.4(ERCC6):c.-32G>A	rs1215179845	0.00002
NM_000124.4(ERCC6):c.-100A>G	rs886047041	0.00001
NM_000124.4(ERCC6):c.-52G>A	rs550772412
NM_000124.4(ERCC6):c.-83G>A	rs886047040

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