ClinVar Miner

Variants studied for Clubfoot; Myopathy; Hemihypertrophy; Short stature; Failure to thrive; Retrognathia; High palate; Pathologic fracture; Adrenal insufficiency; Iron deficiency anemia; Microcephaly; Macrocephalus; Hepatocellular necrosis; Myocardial fibrosis; Myocardial necrosis; Wolff-Parkinson-White syndrome; Nonketotic hypoglycemia; Ketoacidosis; Hypertriglyceridemia; Cerebellar cyst; Hypokinesia; Downturned corners of mouth; Dicarboxylic aciduria; EMG: myopathic abnormalities; Exercise-induced muscle cramps; Exercise-induced myalgia; Decreased body weight; Adrenocortical hypoplasia; Cerebellar cortical atrophy; Elevated creatine kinase after exercise; Exercise-induced muscle stiffness; Pelvic girdle muscle atrophy; Exercise-induced leg cramps; Exercise-induced muscle fatigue; Exercise-induced rhabdomyolysis; Abnormality of carnitine metabolism

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
0 1 0 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic total
DMD 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter likely pathogenic total
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1

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