Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124094
rs398124094
DMD
T 0.700 CausalMutation CLINVAR Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS. 28100912

2017

dbSNP: rs398124094
rs398124094
DMD
T 0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885

2014

dbSNP: rs398124094
rs398124094
DMD
T 0.700 CausalMutation CLINVAR A population-based study of dystrophin mutations in Canada. 21515508

2011

dbSNP: rs398124094
rs398124094
DMD
T 0.700 CausalMutation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601

2009

dbSNP: rs398124094
rs398124094
DMD
T 0.700 CausalMutation CLINVAR Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. 16770791

2006