ClinVar Miner

List of variants reported as pathogenic for Cerebellar ataxia; Demyelinating peripheral neuropathy by Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_020871.4(LRCH2):c.772A>G (p.Lys258Glu)	rs2147404569

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