ClinVar Miner

List of variants in gene ERCC6, LOC130003806 studied for Cerebrooculofacioskeletal syndrome 1

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.-22G>A rs4253006 0.00181
NM_000124.4(ERCC6):c.-65G>A rs1318032118 0.00004
NM_000124.4(ERCC6):c.-32G>A rs1215179845 0.00002
NM_000124.4(ERCC6):c.-100A>G rs886047041 0.00001
NM_000124.4(ERCC6):c.-52G>A rs550772412
NM_000124.4(ERCC6):c.-83G>A rs886047040

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