List of variants in gene CIC reported as pathogenic for autosomal dominant non-syndromic intellectual disability

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000019.9:g.(?_42785739)_(42791254_?)del
NM_001386298.1(CIC):c.1100dup (p.Pro368fs)	rs2147014804
NM_001386298.1(CIC):c.3059dup (p.His1021fs)
NM_001386298.1(CIC):c.3163_3164del (p.Glu1054_Ser1055insTer)	rs1599892470
NM_001386298.1(CIC):c.3179+1G>T	rs2147185256
NM_001386298.1(CIC):c.3400C>T (p.Gln1134Ter)	rs1282986679
NM_001386298.1(CIC):c.3410G>A (p.Arg1137Gln)	rs2147198843
NM_001386298.1(CIC):c.3784C>T (p.Arg1262Ter)	rs1135401823
NM_001386298.1(CIC):c.4201C>T (p.Arg1401Trp)	rs373584239
NM_001386298.1(CIC):c.4528_4535dup (p.Glu1513fs)	rs1135401824
NM_001386298.1(CIC):c.5298_5313del (p.Pro1767fs)	rs1555769968
NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter)	rs1135401825
NM_001386298.1(CIC):c.6074dup (p.Ser2026fs)
NM_001386298.1(CIC):c.6166_6167del (p.Ala2056fs)	rs2147313207

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.