ClinVar Miner

List of variants reported as benign for Cerebrooculofacioskeletal syndrome 1

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Total variants: 15
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HGVS dbSNP
NM_000124.4(ERCC6):c.*1275C>G rs182177140
NM_000124.4(ERCC6):c.*1872C>T rs115281814
NM_000124.4(ERCC6):c.*2137A>G rs114723899
NM_000124.4(ERCC6):c.*2946C>T
NM_000124.4(ERCC6):c.*3395A>C
NM_000124.4(ERCC6):c.*3823T>C
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230

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