ClinVar Miner

List of variants studied for spastic ataxia by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea

Included ClinVar conditions (21):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	rs762947018	0.00001
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)	rs773588375

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