ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy; Cerebellar ataxia; Intellectual disability; Polyneuropathy; Spastic paraparesis by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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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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