ClinVar Miner

List of variants in gene KMT2A reported by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.5630C>T (p.Ala1877Val) rs782094920 0.00002
NM_001197104.2(KMT2A):c.1642A>G (p.Thr548Ala) rs1057519412 0.00001
NM_001197104.2(KMT2A):c.11031del (p.Ser3678fs)
NM_001197104.2(KMT2A):c.1828T>A (p.Ser610Thr) rs1949970364
NM_001197104.2(KMT2A):c.2618G>A (p.Ser873Asn) rs1057519618
NM_001197104.2(KMT2A):c.4246G>T (p.Glu1416Ter) rs1555040446
NM_001197104.2(KMT2A):c.4696+1G>A rs1057519407
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.517C>T (p.Arg173Ter) rs1555035511
NM_001197104.2(KMT2A):c.5822del (p.Lys1941fs) rs2134366416
NM_001197104.2(KMT2A):c.6002_6005del (p.Phe2001fs) rs1057519408
NM_001197104.2(KMT2A):c.6080G>A (p.Gly2027Glu) rs1057519403
NM_001197104.2(KMT2A):c.7466A>C (p.Lys2489Thr) rs1950532082
NM_001197104.2(KMT2A):c.8270dup (p.Ile2758fs)
NM_001197104.2(KMT2A):c.9119C>T (p.Pro3040Leu) rs1565305337
NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer) rs2134406005
NM_001197104.2(KMT2A):c.9839C>A (p.Ser3280Ter) rs1950569353

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.