ClinVar Miner

List of variants reported as pathogenic for Spinocerebellar ataxia type 29 by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys)	rs2125159664
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)	rs1553758021
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	rs886039392

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