List of variants in gene KMT2D reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=)	rs10747559	0.42978
NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=)	rs3782357	0.42594
NM_003482.4(KMT2D):c.2826C>T (p.Ile942=)	rs2241726	0.39054
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=)	rs3741622	0.25778
NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr)	rs1064210	0.09584
NM_003482.4(KMT2D):c.2438C>T (p.Pro813Leu)	rs75226229	0.04312
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln)	rs55865069	0.02422
NM_003482.4(KMT2D):c.5217C>T (p.Gly1739=)	rs111924728	0.01973
NM_003482.4(KMT2D):c.8091C>T (p.Arg2697=)	rs116686402	0.01940
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=)	rs111305262	0.01710
NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile)	rs73302195	0.01486
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=)	rs73302197	0.01361
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu)	rs189888707	0.01025
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val)	rs75937132	0.00847
NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser)	rs3741626	0.00649
NM_003482.4(KMT2D):c.8046+11A>G	rs145186737	0.00640
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)	rs181733689	0.00433
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=)	rs201119371	0.00297
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=)	rs202085637	0.00238
NM_003482.4(KMT2D):c.14382+20C>T	rs114500210	0.00178
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)	rs146044282	0.00152
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=)	rs199798179	0.00048
NM_003482.4(KMT2D):c.6235-32C>A	rs371302554	0.00001
NM_003482.4(KMT2D):c.16412+16del	rs34546217
NM_003482.4(KMT2D):c.2798-7del	rs112620957

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.