List of variants studied 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)	rs61760163	0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)	rs139007661	0.00179
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly)	rs745352643	0.00003
NM_000124.4(ERCC6):c.2830-2A>G	rs373227647	0.00001
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	rs121917902
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser)	rs574272317

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