ClinVar Miner

List of variants reported as pathogenic for Spinocerebellar ataxia type 19/22 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro) rs397515476
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) rs1664632655
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del) rs397515475
NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg)

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