ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by Centogene AG - the Rare Disease Company

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His) rs1057519429 0.00001
NM_001127222.2(CACNA1A):c.2172+14G>A rs1195908031
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro) rs1199275549

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