List of variants in gene TWNK reported as not provided for Infantile onset spinocerebellar ataxia

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)	rs80356540	0.00028
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)	rs80356544	0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr)	rs80356542	0.00001
NM_021830.5(TWNK):c.1287C>T (p.Ala429=)	rs80356541

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