ClinVar Miner

List of variants reported as likely pathogenic for Cockayne syndrome type 2 by Genomics England Pilot Project, Genomics England

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Total variants: 2

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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.2203C>T (p.Arg735Ter)	rs121917901	0.00005

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