ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862866 studied for Episodic ataxia type 2

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)del
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)dup
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met) rs779827819
NM_001127222.2(CACNA1A):c.1037_1082+113del
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys) rs1568546593
NM_001127222.2(CACNA1A):c.979-3C>G
NM_001127222.2(CACNA1A):c.979-69_1082+70del rs2058553788

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