ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) rs1555738369

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