ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic by 3billion

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.3822+1G>A rs794727355
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) rs886041279
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247

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