ClinVar Miner

List of variants reported as pathogenic for Hyperkalemic periodic paralysis by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)	rs1057518865
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	rs80338792
NM_000334.4(SCN4A):c.703+1G>T	rs1909596551

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