ClinVar Miner

List of variants in gene KMT2E reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182931.3(KMT2E):c.2887C>T (p.Arg963Cys) rs375398229 0.00046
NM_182931.3(KMT2E):c.3973C>T (p.Pro1325Ser) rs187060721 0.00046
NM_182931.3(KMT2E):c.5297C>T (p.Thr1766Ile) rs201672288 0.00029
NM_182931.3(KMT2E):c.3875C>T (p.Pro1292Leu) rs144839449 0.00027
NM_182931.3(KMT2E):c.770G>A (p.Gly257Asp) rs144013371 0.00012
NM_182931.3(KMT2E):c.104T>C (p.Val35Ala) rs542916850 0.00007
NM_182931.3(KMT2E):c.2701A>T (p.Thr901Ser) rs200234811 0.00007
NM_182931.3(KMT2E):c.621G>T (p.Gln207His) rs374027563 0.00007
NM_182931.3(KMT2E):c.417C>T (p.Ser139=) rs202085161 0.00006
NM_182931.3(KMT2E):c.3404G>A (p.Arg1135Gln) rs150358701 0.00005
NM_182931.3(KMT2E):c.3695G>A (p.Ser1232Asn) rs530228601 0.00005
NM_182931.3(KMT2E):c.2051T>C (p.Ile684Thr) rs138591534 0.00003
NM_182931.3(KMT2E):c.4231C>T (p.Leu1411Phe) rs544400776 0.00003
NM_182931.3(KMT2E):c.4526A>G (p.Asn1509Ser) rs550780791 0.00003
NM_182931.3(KMT2E):c.1387A>G (p.Lys463Glu) rs201339599 0.00002
NM_182931.3(KMT2E):c.4364C>T (p.Thr1455Met) rs370792273 0.00001
NM_182931.3(KMT2E):c.4657T>C (p.Ser1553Pro) rs764341143 0.00001
NM_182931.3(KMT2E):c.2713C>G (p.Pro905Ala) rs371401904
NM_182931.3(KMT2E):c.3029A>G (p.Asn1010Ser)
NM_182931.3(KMT2E):c.3162C>A (p.Asp1054Glu)
NM_182931.3(KMT2E):c.3188T>C (p.Met1063Thr) rs199561930
NM_182931.3(KMT2E):c.4219AAC[1] (p.Asn1408del) rs751278964
NM_182931.3(KMT2E):c.4639CCACCTCCT[1] (p.Pro1550_Pro1552del) rs749591342
NM_182931.3(KMT2E):c.4809C>T (p.His1603=) rs752450742
NM_182931.3(KMT2E):c.5031ACCCCC[2] (p.Pro1683_Pro1684del) rs751442182
NM_182931.3(KMT2E):c.671A>G (p.Asn224Ser)
NM_182931.3(KMT2E):c.965A>T (p.Asn322Ile)

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.