ClinVar Miner

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

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Total variants: 8
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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.530C>T (p.Ser177Leu) rs200626873 0.00001
NM_017825.3(ADPRS):c.1000C>T (p.Gln334Ter) rs1557734377
NM_017825.3(ADPRS):c.100G>A (p.Asp34Asn) rs1557732234
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro) rs1557733311
NM_017825.3(ADPRS):c.292del (p.Val98fs) rs1557733367
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter) rs368433666
NM_017825.3(ADPRS):c.414_418del (p.Ala139fs) rs1557733597

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