ClinVar Miner

List of variants reported as uncertain significance for Cerebrooculofacioskeletal syndrome 1 by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.1916A>G (p.Asp639Gly) rs367546930 0.00002
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147 0.00001
NM_000124.4(ERCC6):c.289G>A (p.Val97Met) rs1837497957
NM_000124.4(ERCC6):c.3762G>T (p.Lys1254Asn) rs1850747769

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