ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006268.5(DPF2):c.1037A>G (p.Asp346Gly) rs1555032044
NM_006268.5(DPF2):c.1049G>A (p.Arg350His) rs1555032051
NM_006268.5(DPF2):c.1066T>G (p.Cys356Gly) rs2137711041
NM_006268.5(DPF2):c.1099+1G>A rs1555032074
NM_006268.5(DPF2):c.827G>T (p.Cys276Phe) rs1555031372
NM_006268.5(DPF2):c.990C>G (p.Cys330Trp) rs1555031500

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