| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| POMGNT1 | 606822 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 | POMGNT1, ASP556ASN | rs74374973 | 1 | 46189973 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_1000G;E_ESP;CLIN_benign;CLIN_pathogenic;MA=T;MAF=0.00734619;MAC=16;AA=C |
