ClinVar Miner

List of variants studied for Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454 0.00011
NM_017825.3(ADPRS):c.292del (p.Val98fs) rs1557733367
NM_017825.3(ADPRS):c.37G>C (p.Gly13Arg)

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