ClinVar Miner

List of variants in gene GBA2 studied for Primary dilated cardiomyopathy; Cerebellar ataxia; Intellectual disability; Polyneuropathy; Spastic paraparesis

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_020944.3(GBA2):c.1444A>C (p.Asn482His)	rs1826525053

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