ClinVar Miner

List of variants in gene CACNA1S reported as pathogenic by OMIM

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Total variants: 5
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HGVS dbSNP
NM_000069.2(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.2(CACNA1S):c.2627T>A (p.Val876Glu) rs267606698
NM_000069.2(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.2(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.2(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068

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