ClinVar Miner

List of variants reported as uncertain significance for Cerebrooculofacioskeletal syndrome 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001277058.2(ERCC6):c.1696C>T (p.Gln566Ter)	rs370101518	0.00003
NM_000124.4(ERCC6):c.2840G>A (p.Arg947Gln)	rs1332662295	0.00001

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