List of variants in gene DPF2 reported as uncertain significance for Coffin-Siris syndrome 7

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
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.1045G>C (p.Asp349His)	rs373186765
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.904+20C>G	rs1301059856

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