List of variants reported as uncertain significance for COFS syndrome

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.-15+11G>A	rs766986601	0.00050
NM_000124.4(ERCC6):c.*1279T>A	rs189942338	0.00048
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=)	rs761802751	0.00015
NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser)	rs759125039	0.00001
NM_000124.4(ERCC6):c.*232dup	rs74561842
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del)	rs886047036
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del)	rs886047032

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