ClinVar Miner

List of variants in gene CACNA1S reported as uncertain significance for Hypokalemic periodic paralysis

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.1948+13G>C rs538625530 0.00012
NM_000069.2(CACNA1S):c.-206C>T rs886045806 0.00009
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000069.3(CACNA1S):c.398+3G>A rs764710968 0.00005
NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) rs886045801 0.00002
NM_000069.2(CACNA1S):c.-147C>T rs886045805 0.00001
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) rs777962341 0.00001
NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu) rs886045798 0.00001
NM_000069.3(CACNA1S):c.*109G>T rs886045793
NM_000069.3(CACNA1S):c.*260T>A rs886045791
NM_000069.3(CACNA1S):c.152+14C>T rs201285556
NM_000069.3(CACNA1S):c.695-6del rs748832613

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