ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as benign for Hyperkalemic Periodic Paralysis Type 1

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Total variants: 27
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HGVS dbSNP
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.2854-5C>T rs374039266
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=) rs530640921
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.3441+7G>A rs142270113
NM_000334.4(SCN4A):c.3720+10A>G rs111679484
NM_000334.4(SCN4A):c.3720+9G>T rs9303466
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170
NM_000334.4(SCN4A):c.3774+7C>T rs199659791
NM_000334.4(SCN4A):c.3774+8G>A rs374806849
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988
NM_000334.4(SCN4A):c.5292C>T (p.Asp1764=) rs773576176
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710

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