ClinVar Miner

List of variants reported as likely benign 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

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu)	rs2229761	0.00814
NM_000124.4(ERCC6):c.804A>G (p.Ala268=)	rs777672678	0.00001

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