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

Minimum submission review status:		Collection method:
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: 11

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HGVS	dbSNP	gnomAD frequency
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)	rs1415420832	0.00001
NM_021008.4(DEAF1):c.701G>A (p.Trp234Ter)	rs1064795813	0.00001
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly)	rs1064795812	0.00001
NM_021008.4(DEAF1):c.1090_1091del (p.Pro365fs)	rs756419434
NM_021008.4(DEAF1):c.1104_1105dup (p.Asp369fs)	rs1860257102
NM_021008.4(DEAF1):c.1187del (p.Gly396fs)	rs1860194524
NM_021008.4(DEAF1):c.1617dup (p.Cys540fs)	rs1858396813
NM_021008.4(DEAF1):c.571A>T (p.Lys191Ter)	rs1860672061
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)	rs587777623
NM_021008.4(DEAF1):c.815T>G (p.Leu272Ter)
NM_021008.4(DEAF1):c.997+4A>C	rs886040972

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