List of variants reported as likely pathogenic for Cerebrooculofacioskeletal syndrome 3

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000123.3:c.89-?_528+?del
NM_000123.4(ERCC5):c.1068del (p.Ser357fs)	rs1325131028
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)	rs777455688
NM_000123.4(ERCC5):c.2705del (p.Asn902fs)
NM_000123.4(ERCC5):c.480del (p.Asp161fs)

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