ClinVar Miner

List of variants in gene ITPR1 reported as benign for Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome

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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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)	rs3749383	0.00102
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)	rs200534989	0.00016

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