ClinVar Miner

List of variants reported as pathogenic for Cockayne syndrome type 2 by Service de Génétique Moléculaire, Hôpital Robert Debré

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)	rs185142838	0.00025
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)	rs1026438103	0.00003

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