ClinVar Miner

List of variants in gene KMT2D reported by New York Genome Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463 0.00009
NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser) rs544407449 0.00005
NM_003482.4(KMT2D):c.2798-7C>T rs1161537279 0.00005
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr) rs767232021 0.00004
NM_003482.4(KMT2D):c.14519G>A (p.Gly4840Glu) rs1054025123 0.00004
NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser) rs1324674144 0.00004
NM_003482.4(KMT2D):c.8366+6G>T rs749728191 0.00003
NM_003482.4(KMT2D):c.935C>A (p.Ala312Asp) rs750484458 0.00002
NM_003482.4(KMT2D):c.12605A>C (p.Gln4202Pro) rs1276517318 0.00001
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe) rs750774484 0.00001
NM_003482.4(KMT2D):c.13346T>A (p.Leu4449His) rs757710580 0.00001
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe) rs771209224 0.00001
NM_003482.4(KMT2D):c.15707A>G (p.Asn5236Ser) rs1458393564 0.00001
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His) rs745599611 0.00001
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser) rs976882824 0.00001
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn) rs779260688 0.00001
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg) rs587778458 0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe) rs758685548 0.00001
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val) rs1943073751
NM_003482.4(KMT2D):c.12673C>G (p.Leu4225Val) rs949941431
NM_003482.4(KMT2D):c.14468C>T (p.Pro4823Leu) rs1942697370
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala) rs772169265
NM_003482.4(KMT2D):c.4163G>A (p.Arg1388Gln) rs202217665
NM_003482.4(KMT2D):c.7484C>T (p.Pro2495Leu) rs2120525921
NM_003482.4(KMT2D):c.7777C>A (p.Pro2593Thr) rs2120520690
NM_003482.4(KMT2D):c.8102G>A (p.Arg2701Gln) rs1943386777
NM_003482.4(KMT2D):c.9302C>T (p.Pro3101Leu) rs1271758887
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser) rs1291730464

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.