ClinVar Miner

List of variants reported as likely pathogenic for spastic ataxia by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (21):

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.13622dup (p.Leu4541fs)
NM_014363.6(SACS):c.1814C>T (p.Pro605Leu)	rs2137718533
NM_014363.6(SACS):c.5627T>A (p.Leu1876Ter)
NM_014363.6(SACS):c.9590del (p.Ser3197fs)

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