ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862865 reported as uncertain significance for episodic ataxia type 2

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.3961A>G (p.Ser1321Gly) rs2057136011 0.00001
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile) rs779292782
NM_001127222.2(CACNA1A):c.3922T>G (p.Phe1308Val) rs2144833436
NM_001127222.2(CACNA1A):c.3926G>A (p.Arg1309His) rs1568485102
NM_001127222.2(CACNA1A):c.3940A>G (p.Ile1314Val)
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn) rs1568485068

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