ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.3692+1G>T rs1315533129
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214

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