ClinVar Miner

List of variants reported as pathogenic for spastic ataxia 3 by OMIM

Included ClinVar conditions (2):

Spastic ataxia 3
Spastic ataxia 3; Combined oxidative phosphorylation defect type 25

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: 3

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HGVS	dbSNP	gnomAD frequency
MARS2, DUP2
NM_138395.4(MARS2):c.2_*1dup (p.Met1_Ter594=)
NM_138395.4(MARS2):c.682_949del (p.Gly228fs)	rs1553608221

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