|
rs398124099
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Transposable elements in disease-associated cryptic exons.
|
19823873 |
2010 |
|
rs398122853
|
|
Muscular Dystrophy, Duchenne
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
|
rs1557304860
|
|
Muscular Dystrophy, Duchenne
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
|
15351422 |
2004 |
|
rs878854366
|
|
Muscular Dystrophy, Duchenne
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
rs398123942
|
|
Muscular Dystrophy, Duchenne
|
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 |
|
rs398123852
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.
|
17726484 |
2008 |
|
rs1556802319
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.
|
17726484 |
2008 |
|
rs398123827
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
|
10909857 |
2000 |
|
rs1556040444
|
|
Muscular Dystrophy, Duchenne
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.
|
25244321 |
2014 |
|
rs1010666282
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.
|
25244321 |
2014 |
|
rs1556503937
|
|
Muscular Dystrophy, Duchenne
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.
|
10196701 |
1999 |
|
rs794726993
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
rs373286166
|
|
Muscular Dystrophy, Duchenne
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.
|
22223181 |
2012 |
|
rs398124099
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
|
17041906 |
2007 |
|
rs1557380685
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
|
17041906 |
2007 |
|
rs1556875224
|
|
Muscular Dystrophy, Duchenne
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
|
17041906 |
2007 |
|
rs398123942
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
|
19959795 |
2010 |
|
rs1556875224
|
|
Muscular Dystrophy, Duchenne
|
T |
0.700 |
CausalMutation
|
CLINVAR |
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
|
19959795 |
2010 |
|
rs398124040
|
|
Muscular Dystrophy, Duchenne
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.
|
9067763 |
1997 |
|
rs398123923
|
|
Muscular Dystrophy, Duchenne
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
|
rs1557374667
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
|
rs1556806356
|
|
Muscular Dystrophy, Duchenne
|
C |
0.700 |
CausalMutation
|
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
|
rs1556802319
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
|
rs1556040444
|
|
Muscular Dystrophy, Duchenne
|
T |
0.700 |
CausalMutation
|
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
|
rs1556035817
|
|
Muscular Dystrophy, Duchenne
|
T |
0.700 |
CausalMutation
|
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |