ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant cerebellar ataxia by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.2996G>A (p.Arg999His) rs769417045 0.00001
NM_001378452.1(ITPR1):c.7766T>C (p.Val2589Ala) rs2049205080
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter) rs2096866595

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