ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as pathogenic for Hypokalemic periodic paralysis, type 2

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789 0.00001
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548

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