ClinVar Miner

List of variants in gene KMT2A reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.6563C>G (p.Ser2188Cys) rs1555045999 0.00001
NM_001197104.2(KMT2A):c.3034C>T (p.Gln1012Ter) rs1565280934
NM_001197104.2(KMT2A):c.3241C>T (p.Arg1081Ter) rs2134282528
NM_001197104.2(KMT2A):c.3537T>G (p.Phe1179Leu)
NM_001197104.2(KMT2A):c.4924G>A (p.Glu1642Lys) rs369646146
NM_001197104.2(KMT2A):c.5708_5709del (p.His1903fs)
NM_001197104.2(KMT2A):c.6142T>G (p.Phe2048Val) rs1950472916
NM_001197104.2(KMT2A):c.6616C>T (p.Gln2206Ter)
NM_001197104.2(KMT2A):c.7477A>G (p.Lys2493Glu) rs1950532267
NM_001197104.2(KMT2A):c.9684del (p.Leu3229fs)

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.