ClinVar Miner

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

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2830-2A>G	rs373227647	0.00001
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	rs121917902

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