Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123942
rs398123942
DMD
A 0.700 CausalMutation CLINVAR Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases. 26968818

2018

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: rs398123942
rs398123942
DMD
A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing. 21396098

2011

dbSNP: rs398123942
rs398123942
DMD
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

dbSNP: rs398123942
rs398123942
DMD
A 0.700 CausalMutation CLINVAR Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. 20485447

2010

dbSNP: rs398123942
rs398123942
DMD
A 0.700 CausalMutation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601

2009

dbSNP: rs398123942
rs398123942
DMD
A 0.700 CausalMutation CLINVAR Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. 18652600

2008