ClinVar Miner

List of variants studied for Hyperkalemic periodic paralysis by Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000083.3(CLCN1):c.2015G>A (p.Arg672His)
NM_000083.3(CLCN1):c.2639_2641del (p.Leu880del)
NM_000334.4(SCN4A):c.109G>A (p.Ala37Thr)
NM_000334.4(SCN4A):c.1762A>G (p.Ile588Val) rs2144798704
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del) rs760403755
NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu) rs1908692348
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.791T>C (p.Phe264Ser)

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