ClinVar Miner

List of variants in gene combination ERCC6, LOC130003806 reported as benign for COFS syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.-87C>A	rs4253004	0.05245
NM_000124.4(ERCC6):c.-78G>T	rs4253005	0.04020

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