List of variants reported as pathogenic for DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer by Fulgent Genetics, Fulgent Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	rs151242354	0.00009
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.1834C>T (p.Arg612Ter)	rs376526037	0.00003
NM_000124.4(ERCC6):c.2287-2A>G	rs754978734	0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)	rs751838040	0.00002
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	rs1439211546

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