ClinVar Miner

List of variants in gene STAG1 reported as likely pathogenic for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg) rs1471479119 0.00001
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys) rs1559824939
NM_005862.3(STAG1):c.1716dup (p.Ile573fs)
NM_005862.3(STAG1):c.1962dup (p.Asp655Ter)
NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs) rs1559791842
NM_005862.3(STAG1):c.2557dup (p.Glu853fs) rs1560062082
NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter)
NM_005862.3(STAG1):c.3261del (p.Lys1087fs) rs1553789166
NM_005862.3(STAG1):c.3691C>T (p.Arg1231Ter)
NM_005862.3(STAG1):c.418C>T (p.Arg140Ter)
NM_005862.3(STAG1):c.513del (p.Gln170_Trp171insTer) rs2107905668
NM_005862.3(STAG1):c.625G>C (p.Gly209Arg) rs2107905472
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686

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.