ClinVar Miner

List of variants in gene CACNA1A reported by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) rs763045560 0.00008
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245 0.00001
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter) rs2058143736
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg) rs2145030587
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys) rs2057841267
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu) rs1568493631
NM_001127222.2(CACNA1A):c.3652C>T (p.Pro1218Ser)
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter) rs121909323
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.422T>C (p.Ile141Thr) rs2144936441
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly) rs2056674575
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.492C>G (p.Tyr164Ter)
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
NM_001127222.2(CACNA1A):c.5531G>A (p.Gly1844Asp)
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs) rs2144493067
NM_001127222.2(CACNA1A):c.7109G>A (p.Arg2370Gln)
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)

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