ClinVar Miner

List of variants studied for Wiedemann-Steiner syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.11084C>G (p.Ser3695Ter) rs782477344
NM_001197104.2(KMT2A):c.2673_2674del (p.Arg893fs) rs587783676
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.2(KMT2A):c.4426T>A (p.Cys1476Ser) rs587783677
NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter) rs587783678
NM_001197104.2(KMT2A):c.6158+6T>C rs1555045177
NM_001197104.2(KMT2A):c.6811del (p.Arg2271fs) rs797045656
NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter) rs587783679
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro) rs1555047266

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.