ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as pathogenic for Normokalemic periodic paralysis, potassium-sensitive

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Total variants: 3
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NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557

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