ClinVar Miner

List of variants in gene KMT2D reported as likely benign by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.12524C>A (p.Pro4175Gln) rs200315963
NM_003482.3(KMT2D):c.1258+3G>A rs368687683
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.13058C>T (p.Pro4353Leu) rs778418522
NM_003482.3(KMT2D):c.3118T>C (p.Ser1040Pro) rs970636133
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.6919G>A (p.Val2307Ile) rs763955557

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.