Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs398122853
rs398122853
DMD
T 0.700 CausalMutation CLINVAR Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. 21399986

2011
dbSNP: rs398122853
rs398122853
DMD
T 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: rs398122853
rs398122853
DMD
T 0.700 CausalMutation CLINVAR DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. 19206170

2009
dbSNP: rs398122853
rs398122853
DMD
T 0.700 CausalMutation CLINVAR DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. 19793655

2009
dbSNP: rs398122853
rs398122853
DMD
T 0.700 CausalMutation CLINVAR Rapid direct sequence analysis of the dystrophin gene. 12632325

2003