Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894790
rs104894790
DMD
0.010 GeneticVariation BEFREE A literature-annotated disease nonsense mutation (c.10141C>T, NM_004006.1) in exon 70 that has been reported as Duchenne Muscular Dystrophy (DMD)-causing mutation was found in our two patients, the proband and his cousin. 22425969

2012

dbSNP: rs398123942
rs398123942
DMD
A 0.700 CausalMutation CLINVAR Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases. 26968818

2018

dbSNP: rs1556040444
rs1556040444
DMD
T 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017

dbSNP: rs1556503937
rs1556503937
DMD
T 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693

2017

dbSNP: rs1557374667
rs1557374667
DMD
A 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017

dbSNP: rs398122853
rs398122853
DMD
T 0.700 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017

dbSNP: rs794726993
rs794726993
DMD
A 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693

2017

dbSNP: rs373286166
rs373286166
DMD
T 0.700 GeneticVariation CLINVAR A case report with the peculiar concomitance of 2 different genetic syndromes. 27930565

2016

dbSNP: rs398124040
rs398124040
DMD
C 0.700 CausalMutation CLINVAR Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. 26911353

2016

dbSNP: rs878854366
rs878854366
DMD
C 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016

dbSNP: rs1556806356
rs1556806356
DMD
C 0.700 CausalMutation CLINVAR DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. 25972034

2015

dbSNP: rs794726993
rs794726993
DMD
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs1010666282
rs1010666282
DMD
A 0.700 CausalMutation CLINVAR Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. 25244321

2014

dbSNP: rs1556035817
rs1556035817
DMD
T 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014

dbSNP: rs1556040444
rs1556040444
DMD
T 0.700 CausalMutation CLINVAR Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. 25244321

2014

dbSNP: rs1556040444
rs1556040444
DMD
T 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014

dbSNP: rs1556802319
rs1556802319
DMD
A 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014

dbSNP: rs1556806356
rs1556806356
DMD
C 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014

dbSNP: rs1557374667
rs1557374667
DMD
A 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014

dbSNP: rs398123923
rs398123923
DMD
G 0.700 GeneticVariation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014

dbSNP: rs398123942
rs398123942
DMD
A 0.700 CausalMutation CLINVAR Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study. 23756440

2014

dbSNP: rs398123827
rs398123827
DMD
A 0.700 CausalMutation CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893

2013

dbSNP: rs398123909
rs398123909
DMD
A 0.700 GeneticVariation CLINVAR MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. 23453023

2013

dbSNP: rs373286166
rs373286166
DMD
T 0.700 GeneticVariation CLINVAR Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. 22223181

2012

dbSNP: rs1385794215
rs1385794215
DMD
A 0.700 CausalMutation CLINVAR Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. 21399986

2011