List of variants in gene DEAF1 reported as likely pathogenic for Intellectual disability-epilepsy-extrapyramidal syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_021008.4(DEAF1):c.1051C>T (p.Arg351Ter)	rs753168686	0.00001
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu)	rs1590017652
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)	rs587777623
NM_021008.4(DEAF1):c.997+2_997+3del	rs1860334710
NM_021008.4(DEAF1):c.997+4A>C	rs886040972

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