ClinVar Miner

List of variants reported as likely pathogenic for Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)

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