ClinVar Miner

List of variants studied for Hypokalemic periodic paralysis, type 1 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000069.3(CACNA1S):c.1707C>G (p.Phe569Leu)
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) rs267606698
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068

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