ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862864 studied for Episodic ataxia type 2

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127222.2(CACNA1A):c.4205T>G (p.Phe1402Cys)	rs121908227
NM_001127222.2(CACNA1A):c.4242del (p.Asp1415fs)

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