ClinVar Miner

List of variants in gene CACNA1A reported as benign by Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6837G>A (p.Pro2279=) rs147221323 0.03348
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814

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