List of variants reported as likely pathogenic for Cockayne syndrome type 2 by Claritas Genomics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs)	rs774791374	0.00001
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)	rs765825423	0.00001
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)	rs786205168
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)	rs767247987
NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter)	rs786205173

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