List of variants reported as benign for COFS syndrome by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)	rs2227869	0.04366
NM_000123.4(ERCC5):c.1440C>T (p.His480=)	rs4150316	0.03429
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg)	rs4150313	0.02531
NM_000123.4(ERCC5):c.429C>G (p.Leu143=)	rs4140390	0.02517
NM_000123.4(ERCC5):c.760A>G (p.Met254Val)	rs1047769	0.02485
NM_000123.4(ERCC5):c.960C>T (p.Asp320=)	rs4150314	0.00931

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