ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862864 reported by GeneDx

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.4090-165G>A rs2074879 0.34512
NM_001127222.2(CACNA1A):c.4090-207T>G rs2074880 0.29182
NM_001127222.2(CACNA1A):c.4090-313T>C rs149142457 0.00561
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430 0.00034
NM_001127222.2(CACNA1A):c.4125C>T (p.Asn1375=) rs767026062 0.00005
NM_001127222.2(CACNA1A):c.4096T>A (p.Phe1366Ile) rs1057520749
NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg) rs886041909
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.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4174G>C (p.Val1392Leu) rs794727411
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.4249C>T (p.Arg1417Ter) rs2056733130
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln) rs1568471977

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