ClinVar Miner

List of variants reported as uncertain significance 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: 2

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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

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