ClinVar Miner

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

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Total variants: 9
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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.1106G>A (p.Arg369Gln)
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.4328A>G (p.Asp1443Gly) rs2056674575
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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