ClinVar Miner

List of variants reported as pathogenic for Cockayne syndrome type 2 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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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.2551T>A (p.Trp851Arg)	rs368728467

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