ClinVar Miner

List of variants studied for Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.354+5GT[13] rs3833150
NM_018896.5(CACNA1G):c.5161A>T (p.Lys1721Ter) rs2050911351
NM_018896.5(CACNA1G):c.5543C>G (p.Ala1848Gly)
NM_018896.5(CACNA1G):c.5695GACAGCCCC[1] (p.1899DSP[1]) rs751210873

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