List of variants in gene ERCC6 reported as likely benign 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.*3921A>G	rs533984667	0.00364
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=)	rs114896216	0.00234
NM_000124.4(ERCC6):c.*118A>C	rs4253233	0.00201
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg)	rs142094044	0.00191
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr)	rs148636026	0.00191
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=)	rs148366188	0.00108
NM_000124.4(ERCC6):c.150G>A (p.Val50=)	rs80133923	0.00073
NM_000124.4(ERCC6):c.*4208A>G	rs182395696	0.00014
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile)	rs116275562	0.00007
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)	rs4253208

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