List of variants in gene DMD reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 32

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)	rs72466590	0.00126
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)	rs148781346	0.00071
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)	rs140913030	0.00071
NM_004006.3(DMD):c.4072-245C>T	rs140237546	0.00046
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)	rs138145424	0.00034
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)	rs727503828	0.00032
NM_004006.3(DMD):c.9225-5819G>T	rs377152944	0.00026
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)	rs201302282	0.00016
NM_004006.3(DMD):c.32-14A>G	rs367757761	0.00015
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)	rs151150099	0.00014
NM_004006.3(DMD):c.3281T>C (p.Leu1094Ser)	rs876657778	0.00009
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg)	rs750349613	0.00007
NM_004006.3(DMD):c.*24G>A	rs372284841	0.00006
NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys)	rs146384458	0.00006
NM_004006.3(DMD):c.43G>C (p.Asp15His)	rs876657780	0.00006
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)	rs777510517	0.00004
NM_004006.3(DMD):c.1159A>G (p.Met387Val)	rs770202940	0.00004
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu)	rs144717862	0.00004
NM_004006.3(DMD):c.6118-13T>G	rs750033728	0.00004
NM_004006.3(DMD):c.8582T>C (p.Val2861Ala)	rs181284440	0.00004
NM_004006.3(DMD):c.31+83105G>A	rs772161214	0.00003
NM_004006.3(DMD):c.298G>A (p.Val100Ile)	rs779099343	0.00002
NM_004006.3(DMD):c.4175A>G (p.Gln1392Arg)	rs876657779	0.00001
NM_004006.3(DMD):c.23_35del	rs752332058
NM_004006.3(DMD):c.-10A>T	rs1557300175
NM_004006.3(DMD):c.1248A>T (p.Glu416Asp)	rs876657777
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser)	rs766450050
NM_004006.3(DMD):c.2950-9G>T	rs772822759
NM_004006.3(DMD):c.4082G>C (p.Arg1361Thr)	rs753639717
NM_004006.3(DMD):c.640G>A (p.Asp214Asn)	rs876657781
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup)	rs1395996899
NM_004006.3(DMD):c.9362-3C>T	rs752816247

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.