ClinVar Miner

List of variants in gene KMT2D reported by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg) rs751367935 0.00008
NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln) rs757300574 0.00005
NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr) rs777604931 0.00003
NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val) rs764604229 0.00003
NM_003482.4(KMT2D):c.7572G>A (p.Thr2524=) rs772878105 0.00002
NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser) rs761594079 0.00001
NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu) rs765343914 0.00001
NM_003482.4(KMT2D):c.6902C>T (p.Pro2301Leu) rs1565794840 0.00001
NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu) rs780776865 0.00001
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.10640G>A (p.Arg3547His) rs775632051
NM_003482.4(KMT2D):c.15341A>C (p.His5114Pro) rs1565759674
NM_003482.4(KMT2D):c.2694_2708del (p.Ala899_Pro903del) rs759557020
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.5267G>A (p.Arg1756Gln) rs908795312
NM_003482.4(KMT2D):c.5934C>T (p.Gly1978=) rs2120554214
NM_003482.4(KMT2D):c.6215G>A (p.Arg2072His) rs748389081

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.