ClinVar Miner

List of variants studied for Cockayne syndrome type 2 by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168

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