List of variants reported as pathogenic for COFS syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	rs376556895	0.00010
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	rs151242354	0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	rs121913026	0.00009
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901	0.00005
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)	rs121917904	0.00004
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)	rs376526037	0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	rs41556519	0.00003
NM_000124.4(ERCC6):c.2287-2A>G	rs754978734	0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)	rs751838040	0.00002
NM_000124.4(ERCC6):c.2830-2A>G	rs373227647	0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	rs758439420	0.00001
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	rs121917902
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	rs1439211546
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	rs587778271

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