ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862864 reported as uncertain significance for not provided

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430 0.00034
NM_001127222.2(CACNA1A):c.4131C>T (p.Phe1377=)
NM_001127222.2(CACNA1A):c.4142T>C (p.Ile1381Thr) rs2144767542
NM_001127222.2(CACNA1A):c.4150A>C (p.Met1384Leu)
NM_001127222.2(CACNA1A):c.4152G>C (p.Met1384Ile)
NM_001127222.2(CACNA1A):c.4173_4174insATCTTC (p.Ala1391_Val1392insIlePhe) rs1600195777
NM_001127222.2(CACNA1A):c.4197G>C (p.Lys1399Asn)
NM_001127222.2(CACNA1A):c.4210C>T (p.His1404Tyr)
NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu) rs932772664
NM_001127222.2(CACNA1A):c.4233G>A (p.Glu1411=)
NM_001127222.2(CACNA1A):c.4247G>T (p.Cys1416Phe)
NM_001127222.2(CACNA1A):c.4250+4G>C
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln) rs1568471977

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