List of variants reported as likely pathogenic for Cockayne syndrome type 2 by 3billion

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2336del (p.Phe779fs)	rs2132544294
NM_000124.4(ERCC6):c.2547_2550del (p.Lys849fs)
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)	rs1554875536
NM_000124.4(ERCC6):c.542dup (p.Glu182fs)

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