ClinVar Miner

List of variants reported as likely benign for Cerebrooculofacioskeletal syndrome 1 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 11
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NM_000124.4(ERCC6):c.*118A>C rs4253233
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg) rs142094044
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr) rs148636026
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile) rs116275562

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