List of variants in gene DMD reported as pathogenic 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: 51

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer)	rs886043676
NM_004006.3(DMD):c.1249G>T (p.Glu417Ter)	rs1057515877
NM_004006.3(DMD):c.1417A>T (p.Lys473Ter)	rs886042499
NM_004006.3(DMD):c.1481del (p.Lys494fs)	rs1556853022
NM_004006.3(DMD):c.1638G>A (p.Trp546Ter)	rs1569230293
NM_004006.3(DMD):c.1704+1G>A	rs794727123
NM_004006.3(DMD):c.1865C>G (p.Ser622Ter)	rs886041344
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter)	rs1603636537
NM_004006.3(DMD):c.2101G>T (p.Glu701Ter)	rs1556780711
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter)	rs863224985
NM_004006.3(DMD):c.2332C>T (p.Gln778Ter)	rs398123883
NM_004006.3(DMD):c.2416G>T (p.Glu806Ter)	rs1557383761
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)	rs753662330
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)	rs1060502639
NM_004006.3(DMD):c.336G>A (p.Trp112Ter)	rs398123936
NM_004006.3(DMD):c.3556G>T (p.Glu1186Ter)	rs868836192
NM_004006.3(DMD):c.3856G>T (p.Glu1286Ter)	rs1569562570
NM_004006.3(DMD):c.4060del (p.Leu1354fs)	rs1557357445
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter)	rs398123948
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter)	rs863224997
NM_004006.3(DMD):c.4538_4541del (p.Ser1513fs)	rs1064793479
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter)	rs1557320194
NM_004006.3(DMD):c.4845+2T>G	rs1557315881
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)	rs398123981
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter)	rs777864641
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)	rs1569559204
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)	rs863225003
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter)	rs1057520764
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter)	rs773643220
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter)	rs863225005
NM_004006.3(DMD):c.5941dup (p.Thr1981fs)
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs)	rs863225006
NM_004006.3(DMD):c.6276C>G (p.Tyr2092Ter)	rs1569555987
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter)	rs128626250
NM_004006.3(DMD):c.631A>T (p.Lys211Ter)	rs2148750714
NM_004006.3(DMD):c.6614+2T>C	rs1060502641
NM_004006.3(DMD):c.6868A>T (p.Lys2290Ter)	rs2094827879
NM_004006.3(DMD):c.686T>G (p.Leu229Ter)	rs1556930769
NM_004006.3(DMD):c.6874G>T (p.Glu2292Ter)	rs1569515486
NM_004006.3(DMD):c.6911del (p.Lys2304fs)	rs2149988984
NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter)	rs1556790316
NM_004006.3(DMD):c.8197G>T (p.Glu2733Ter)	rs1556764743
NM_004006.3(DMD):c.8391-2A>G	rs1556665303
NM_004006.3(DMD):c.8524C>T (p.Gln2842Ter)	rs1569547229
NM_004006.3(DMD):c.8782A>T (p.Lys2928Ter)	rs1556656298
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)	rs727503864
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter)	rs1556656184
NM_004006.3(DMD):c.9180del (p.Trp3061fs)	rs1569526156
NM_004006.3(DMD):c.9560A>G (p.Asp3187Gly)	rs1556280638
NM_004006.3(DMD):c.9634G>T (p.Glu3212Ter)	rs1569463953
NM_004006.3(DMD):c.9851G>A (p.Trp3284Ter)	rs398124104

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.