ClinVar Miner

List of variants in gene CACNA1S reported as likely benign for Hypokalemic periodic paralysis

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00464
NM_000069.3(CACNA1S):c.-60A>G rs145803564 0.00349
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302 0.00170
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418 0.00076
NM_000069.2(CACNA1S):c.-140C>T rs547864807 0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930 0.00004
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358 0.00004
NM_000069.2(CACNA1S):c.-110C>T rs529955487
NM_000069.2(CACNA1S):c.-213G>A rs536755317
NM_000069.3(CACNA1S):c.4350C>G (p.Gly1450=) rs761794209

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