List of variants in gene IQSEC1 studied for Intellectual developmental disorder with short stature and behavioral abnormalities

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001134382.3(IQSEC1):c.1428G>A (p.Ser476=)	rs3732685	0.00462
NM_001134382.3(IQSEC1):c.2602G>A (p.Val868Ile)	rs17541405	0.00396
NM_001134382.3(IQSEC1):c.1028C>T (p.Thr343Met)	rs765723607	0.00001
NM_001134382.3(IQSEC1):c.122C>T (p.Pro41Leu)	rs751369634	0.00001
NM_001134382.3(IQSEC1):c.788G>A (p.Arg263Gln)	rs769383880	0.00001
NM_001134382.3(IQSEC1):c.962G>A (p.Arg321Gln)	rs758170522	0.00001
NM_001134382.3(IQSEC1):c.1181A>G (p.Glu394Gly)
NM_001134382.3(IQSEC1):c.1381A>G (p.Ser461Gly)
NM_001134382.3(IQSEC1):c.1407C>G (p.Ile469Met)
NM_001134382.3(IQSEC1):c.2194C>T (p.Leu732Phe)
NM_001134382.3(IQSEC1):c.3028G>A (p.Gly1010Ser)
NM_001134382.3(IQSEC1):c.3140_3163del (p.His1047_Ala1055delinsPro)
NM_001134382.3(IQSEC1):c.949G>T (p.Asp317Tyr)	rs1698161896
NM_001376938.2(IQSEC1):c.212G>A (p.Gly71Asp)

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.