List of variants reported as likely pathogenic for Coffin-Siris syndrome 7

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006268.5(DPF2):c.1067G>C (p.Cys356Ser)	rs2495413705
NM_006268.5(DPF2):c.1094dup (p.Pro365_Glu366insTer)	rs35405661
NM_006268.5(DPF2):c.1099+2dup	rs2137711145
NM_006268.5(DPF2):c.884G>A (p.Cys295Tyr)
NM_006268.5(DPF2):c.899G>T (p.Arg300Leu)
NM_006268.5(DPF2):c.970T>G (p.Cys324Gly)	rs2495407169
NM_006268.5(DPF2):c.976G>A (p.Glu326Lys)

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