ClinVar Miner

List of variants reported as not provided for Episodic ataxia type 1 by GenomeConnect, ClinGen

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ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000217.3(KCNA1):c.667A>G (p.Ile223Val) rs146948558 0.00002
NM_000217.3(KCNA1):c.1126G>C (p.Gly376Arg) rs1555085786

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