List of variants reported as likely benign for DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 by Counsyl

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=)	rs771604820	0.00001
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=)	rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=)	rs764159237
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=)	rs267602508
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=)	rs150762517
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=)	rs886047034

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