ClinVar Miner

List of variants in gene TOR1A reported as likely pathogenic for generalized dystonia

Included ClinVar conditions (8):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	rs760768475	0.00003
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	rs80358233

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