ClinVar Miner

List of variants in gene CACNA1A reported by Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu) rs751515136 0.00001
NM_001127222.2(CACNA1A):c.3031G>A (p.Ala1011Thr) rs1263091149
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) rs759331923

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