ClinVar Miner

List of variants studied for Hyperkalemic periodic paralysis by MGZ Medical Genetics Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2995G>T (p.Val999Leu)

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