ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 47 by Revvity Omics, Revvity

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005862.3(STAG1):c.284A>G (p.Lys95Arg) rs147882530 0.00004
NM_005862.3(STAG1):c.2334G>T (p.Gln778His) rs762160605 0.00002
NM_005862.3(STAG1):c.3401A>C (p.Gln1134Pro) rs1381188958 0.00002
NM_005862.3(STAG1):c.1132A>G (p.Ile378Val) rs1467330352 0.00001
NM_005862.3(STAG1):c.139A>G (p.Asn47Asp) rs2472679439 0.00001
NM_005862.3(STAG1):c.2038-5dup rs748993808
NM_005862.3(STAG1):c.2061C>T (p.Asp687=) rs1559790969
NM_005862.3(STAG1):c.254T>C (p.Val85Ala) rs2472679119
NM_005862.3(STAG1):c.513del (p.Gln170_Trp171insTer) rs2107905668

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.