List of variants reported as pathogenic for DE SANCTIS-CACCHIONE SYNDROME

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Total variants: 5

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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.2047C>T (p.Arg683Ter)	rs121917904	0.00004
NM_000124.4(ERCC6):c.2830-2A>G	rs373227647	0.00001
NM_000124.4(ERCC6):c.1868_1869dup (p.Ser624fs)	rs1307714476
NM_000124.4(ERCC6):c.3445G>T (p.Glu1149Ter)	rs1250248245

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