List of variants in gene ERCC6 reported as likely benign for COFS syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.*1327G>A	rs117289374	0.01454
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu)	rs2229761	0.00814
NM_000124.4(ERCC6):c.*1981dup	rs557832376	0.00515
NM_000124.4(ERCC6):c.*2155T>C	rs114183603	0.00503
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.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.*2337A>C	rs557944846

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