List of variants reported as pathogenic for Cockayne syndrome by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)	rs121434326	0.00006
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)	rs121434324	0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901	0.00005
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)	rs121434325	0.00001
NM_000082.3:c.844_1122del
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter)	rs121434323
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs)	rs1590474873
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	rs121917902
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)	rs786205168
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter)	rs121917900
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs)	rs2132552521
NM_000124.4(ERCC6):c.972dup (p.Glu325fs)	rs387906262

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