ClinVar Miner

List of variants in gene ERCC6 reported as likely benign for Cerebrooculofacioskeletal syndrome 1

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Gene type:
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Total variants: 8
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NM_000124.4(ERCC6):c.*118A>C rs4253233
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

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