ClinVar Miner

List of variants in gene combination LOC108663996, TBP reported as uncertain significance for cerebelloparenchymal disorder

Included ClinVar conditions (1):

Spinocerebellar ataxia type 17

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: 1

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HGVS	dbSNP	gnomAD frequency
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs)	rs1290125655	0.00082

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