ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 19/22 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_001378969.1(KCND3):c.1646G>A (p.Arg549His) rs35027371 0.00016
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met) rs2101997230
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del) rs397515475

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