ClinVar Miner

List of variants in gene DPF2 studied for Coffin-Siris syndrome

Included ClinVar conditions (24):
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006268.5(DPF2):c.302-11C>T rs373181445 0.00038
NM_006268.5(DPF2):c.1169C>A (p.Ser390Tyr) rs765632713 0.00002
NM_006268.5(DPF2):c.844A>T (p.Ile282Phe) rs1854515495 0.00001
NM_006268.5(DPF2):c.900C>T (p.Arg300=) rs775695232 0.00001
NM_006268.5(DPF2):c.1037A>G (p.Asp346Gly) rs1555032044
NM_006268.5(DPF2):c.1045G>C (p.Asp349His) rs373186765
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.1067G>C (p.Cys356Ser)
NM_006268.5(DPF2):c.1094dup (p.Pro365_Glu366insTer)
NM_006268.5(DPF2):c.1099+1G>A rs1555032074
NM_006268.5(DPF2):c.1099+2dup rs2137711145
NM_006268.5(DPF2):c.203C>A (p.Ser68Tyr)
NM_006268.5(DPF2):c.364C>G (p.Leu122Val) rs1854369385
NM_006268.5(DPF2):c.397G>C (p.Ala133Pro)
NM_006268.5(DPF2):c.508G>C (p.Glu170Gln)
NM_006268.5(DPF2):c.827G>T (p.Cys276Phe) rs1555031372
NM_006268.5(DPF2):c.904+20C>G rs1301059856
NM_006268.5(DPF2):c.990C>G (p.Cys330Trp) rs1555031500

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