ClinVar Miner

List of variants in gene ITPR1, LOC126806590 studied for Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)	rs1553757628

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