ClinVar Miner

List of variants studied for Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017825.3(ADPRS):c.491A>G (p.Tyr164Cys) rs139736291 0.00039
NM_017825.3(ADPRS):c.136G>T (p.Val46Phe) rs749889837 0.00001
NM_017825.3(ADPRS):c.384G>A (p.Leu128=) rs138995178 0.00001

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