List of variants reported as pathogenic for Cockayne syndrome type 2 by Genetic Services Laboratory, University of Chicago

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901	0.00005
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)	rs772801089	0.00002
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)	rs121917903	0.00001
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)	rs751292948
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)	rs368728467
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs)	rs797045562

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