ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.1348T>C (p.Ser450Pro) rs1308599413 0.00003
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp) rs773593740 0.00001
NM_001127222.2(CACNA1A):c.3179C>G (p.Pro1060Arg) rs763400188
NM_001127222.2(CACNA1A):c.5213T>C (p.Phe1738Ser) rs2144646654
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6658_6669del (p.Pro2220_Pro2223del) rs2144501445

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