ClinVar Miner

List of variants in gene CACNA1A reported by Solve-RD Consortium

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1862del (p.Phe621fs)
NM_001127222.2(CACNA1A):c.3882+2T>C rs2057168559
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247

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