ClinVar Miner

List of variants in gene COL6A2 studied for Muscle weakness; Spasticity; Hypertonia; Neurogenic bladder; Spastic gait; Abnormality of the cerebral white matter; Cerebral venous thrombosis; Bone marrow hypocellularity; Myelitis; Abnormal thalamic MRI signal intensity; Abnormal brainstem MRI signal intensity; Combined immunodeficiency

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Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_001849.3(COL6A2):c.2008A>G (p.Thr670Ala)

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