ClinVar Miner

List of variants reported as likely pathogenic for Episodic ataxia type 2

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Total variants: 7
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HGVS dbSNP
NC_000019.10:g.13212102C>T
NM_001127221.1(CACNA1A):c.2070_2071delinsGGAG (p.Phe690fs) rs1568514371
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter) rs121909324
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.631+5G>A rs786200963
NM_001127221.1(CACNA1A):c.757C>T (p.His253Tyr) rs121908228

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