List of variants reported as benign for COFS syndrome

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.1821+7C>T	rs4253132	0.84443
NM_000124.4(ERCC6):c.135C>G (p.Leu45=)	rs2228524	0.62551
NM_000124.4(ERCC6):c.*379C>G	rs4253234	0.31692
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=)	rs2229760	0.31596
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)	rs2228527	0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)	rs2228526	0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)	rs2228529	0.18890
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)	rs2228528	0.17598
NM_000124.4(ERCC6):c.*1830T>C	rs11101137	0.09932
NM_000124.4(ERCC6):c.*53T>C	rs4253231	0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=)	rs4253013	0.09896
NM_000124.4(ERCC6):c.*933G>A	rs3750751	0.07801
NM_000124.4(ERCC6):c.1964_1966del	rs147228327	0.06626
NM_000124.4(ERCC6):c.-78G>T	rs4253005	0.04162
NM_000124.4(ERCC6):c.528A>G (p.Arg176=)	rs4253027	0.01480
NM_000124.4(ERCC6):c.-87C>A	rs4253004
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro)	rs4253211

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