ClinVar Miner

List of variants studied for Cockayne syndrome type 2 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2300G>A (p.Arg767His) rs56397747 0.00001
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793 0.00001
NM_000124.4(ERCC6):c.3670C>A (p.His1224Asn)

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