List of variants studied for autosomal dominant non-syndromic intellectual disability by GenomeConnect - Simons Searchlight

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006734.4(HIVEP2):c.4144G>A (p.Ala1382Thr)	rs368520807	0.00009
NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr)	rs869312847
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)	rs869312841
NM_006734.4(HIVEP2):c.2905C>T (p.Gln969Ter)	rs869312842
NM_006734.4(HIVEP2):c.3742C>T (p.Gln1248Ter)	rs1562505335
NM_006734.4(HIVEP2):c.5620+1GT[2]	rs1775234925
NM_006734.4(HIVEP2):c.5686C>T (p.Gln1896Ter)	rs1775204653
NM_006734.4(HIVEP2):c.5900del (p.Ser1967fs)	rs1064796034
NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter)	rs1554275163
NM_006734.4(HIVEP2):c.6667C>T (p.Arg2223Ter)	rs1562493608
NM_006734.4(HIVEP2):c.6698G>A (p.Gly2233Glu)	rs1774991184
NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter)	rs1554274371

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.