ClinVar Miner

List of variants studied for Hypokalemic periodic paralysis, type 1 by MGZ Medical Genetics Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694 0.00021
NM_000069.3(CACNA1S):c.182del (p.Ile61fs)
NM_000069.3(CACNA1S):c.2293C>T (p.Gln765Ter)
NM_000069.3(CACNA1S):c.929C>G (p.Pro310Arg)

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