List of variants reported as likely benign for Cockayne syndrome by Illumina Laboratory Services, Illumina

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.-23T>G	rs4647038	0.02401
NM_000124.4(ERCC6):c.*1327G>A	rs117289374	0.01454
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp)	rs4253047	0.01008
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu)	rs2229761	0.00814
NM_000082.3(ERCC8):c.-133C>G	rs4647037	0.00723
NM_000124.4(ERCC6):c.*1981dup	rs557832376	0.00515
NM_000124.4(ERCC6):c.*2155T>C	rs114183603	0.00503
NM_000124.4(ERCC6):c.*3921A>G	rs533984667	0.00364
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=)	rs114896216	0.00234
NM_000124.4(ERCC6):c.*118A>C	rs4253233	0.00201
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg)	rs142094044	0.00191
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr)	rs148636026	0.00191
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)	rs4253046	0.00188
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.2096C>T (p.Thr699Met)	rs55698015	0.00142
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)	rs145720191	0.00137
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)	rs150727525	0.00131
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=)	rs148366188	0.00108
NM_000124.4(ERCC6):c.150G>A (p.Val50=)	rs80133923	0.00073
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)	rs148095899	0.00061
NM_000124.4(ERCC6):c.*1314G>A	rs542053472	0.00043
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=)	rs35365613	0.00041
NM_000124.4(ERCC6):c.*4208A>G	rs182395696	0.00014
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile)	rs116275562	0.00007
NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu)	rs543291626
NM_000124.4(ERCC6):c.*2337A>C	rs557944846
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)	rs4253208

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