ClinVar Miner

List of variants reported as pathogenic for autosomal recessive spastic ataxia by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

Included ClinVar conditions (9):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)	rs769212398	0.00001
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)	rs770901638

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