List of variants reported as pathogenic for Cerebrooculofacioskeletal syndrome 1

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)	rs185142838	0.00025
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.1004del (p.Leu335fs)	rs1554793305
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	rs1439211546
NM_000124.4(ERCC6):c.2218_2221del (p.Pro740fs)
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val)	rs1590413260
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro)	rs121917905
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs)	rs758341467
NM_000124.4(ERCC6):c.[1727C>G;1834C>T]

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