ClinVar Miner

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

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Total variants: 196
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HGVS dbSNP
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
NM_000334.4(SCN4A):c.2054C>T (p.Thr685Met)
NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile) rs80338955
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp) rs1327920743
NM_000334.4(SCN4A):c.2096C>T (p.Ala699Val) rs1395381249
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2188G>A (p.Val730Met) rs113462659
NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser) rs199651516
NM_000334.4(SCN4A):c.2208C>T (p.Asp736=) rs751675273
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422
NM_000334.4(SCN4A):c.2223C>T (p.Arg741=) rs1041781133
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284
NM_000334.4(SCN4A):c.2290G>A (p.Glu764Lys) rs1403270355
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=) rs375349902
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2362A>G (p.Ile788Val)
NM_000334.4(SCN4A):c.2375T>G (p.Val792Gly)
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2391C>G (p.Phe797Leu) rs1253601722
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr)
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro)
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255
NM_000334.4(SCN4A):c.2479G>A (p.Gly827Arg)
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr) rs1346442665
NM_000334.4(SCN4A):c.2574C>T (p.Leu858=) rs184107335
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948
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.2662A>C (p.Lys888Gln) rs202155883
NM_000334.4(SCN4A):c.2675A>G (p.His892Arg)
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp)
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944
NM_000334.4(SCN4A):c.2711C>G (p.Pro904Arg)
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.2729A>T (p.Asp910Val)
NM_000334.4(SCN4A):c.2747A>G (p.Asn916Ser) rs767053007
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.2773C>T (p.Pro925Ser) rs1567820767
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266
NM_000334.4(SCN4A):c.2795A>C (p.Asp932Ala)
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948
NM_000334.4(SCN4A):c.2854-5C>T rs374039266
NM_000334.4(SCN4A):c.2889C>A (p.Ser963=) rs757881584
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.2919del (p.Glu974fs)
NM_000334.4(SCN4A):c.2920G>A (p.Glu974Lys)
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.2992T>C (p.Cys998Arg) rs1555601897
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys) rs199713025
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His)
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg)
NM_000334.4(SCN4A):c.3039T>C (p.Arg1013=) rs1319435457
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795
NM_000334.4(SCN4A):c.3065G>A (p.Arg1022Lys) rs1285110954
NM_000334.4(SCN4A):c.3099C>T (p.Phe1033=) rs753862870
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229
NM_000334.4(SCN4A):c.3176G>A (p.Arg1059Gln) rs749433088
NM_000334.4(SCN4A):c.3185G>C (p.Arg1062Pro) rs769704334
NM_000334.4(SCN4A):c.3238A>G (p.Met1080Val)
NM_000334.4(SCN4A):c.3312C>T (p.Ile1104=) rs779189351
NM_000334.4(SCN4A):c.3357C>T (p.Tyr1119=) rs903219930
NM_000334.4(SCN4A):c.3359C>T (p.Ser1120Leu) rs1314399622
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln) rs780703403
NM_000334.4(SCN4A):c.3441+7G>A rs142270113
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln) rs754401226
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577
NM_000334.4(SCN4A):c.3720+10A>G rs111679484
NM_000334.4(SCN4A):c.3720+9G>T rs9303466
NM_000334.4(SCN4A):c.3720G>A (p.Val1240=) rs1567818014
NM_000334.4(SCN4A):c.3749T>C (p.Met1250Thr)
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.3796G>A (p.Glu1266Lys) rs1398605254
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551
NM_000334.4(SCN4A):c.3898C>G (p.Gln1300Glu) rs1357732381
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn) rs1567817380
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.3939G>A (p.Thr1313=)
NM_000334.4(SCN4A):c.3965C>T (p.Ala1322Val) rs1567817350
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550
NM_000334.4(SCN4A):c.4066G>A (p.Asp1356Asn)
NM_000334.4(SCN4A):c.4069A>C (p.Ile1357Leu) rs1555601045
NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val) rs80338959
NM_000334.4(SCN4A):c.4086_4087delinsAT (p.Ile1363Phe)
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val) rs80338960
NM_000334.4(SCN4A):c.4116G>A (p.Val1372=)
NM_000334.4(SCN4A):c.4201G>A (p.Val1401Met)
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4216G>A (p.Ala1406Thr) rs774364108
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)
NM_000334.4(SCN4A):c.4240G>A (p.Val1414Ile)
NM_000334.4(SCN4A):c.4270G>A (p.Val1424Ile) rs375844960
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4300T>C (p.Ser1434Pro) rs1567816549
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro)
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met)
NM_000334.4(SCN4A):c.4342C>A (p.Arg1448Ser) rs121908544
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro) rs121908545
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)
NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser)
NM_000334.4(SCN4A):c.4388G>A (p.Arg1463His)
NM_000334.4(SCN4A):c.4388G>T (p.Arg1463Leu)
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg) rs150423825
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=) rs758113478
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529
NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp)
NM_000334.4(SCN4A):c.4477A>G (p.Met1493Val)
NM_000334.4(SCN4A):c.4483A>T (p.Ile1495Phe) rs80338961
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)
NM_000334.4(SCN4A):c.4503G>A (p.Met1501Ile)
NM_000334.4(SCN4A):c.4557C>A (p.Phe1519Leu) rs931435454
NM_000334.4(SCN4A):c.4568G>A (p.Gly1523Asp) rs1285419994
NM_000334.4(SCN4A):c.4601C>A (p.Thr1534Lys) rs939785324
NM_000334.4(SCN4A):c.4601C>T (p.Thr1534Met)
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585
NM_000334.4(SCN4A):c.4639A>C (p.Asn1547His)
NM_000334.4(SCN4A):c.4642A>G (p.Ser1548Gly) rs1567816311
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser)
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529
NM_000334.4(SCN4A):c.4719C>T (p.Ile1573=) rs562551941
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr)
NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg) rs1555600678
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815
NM_000334.4(SCN4A):c.4890C>T (p.Asp1630=) rs781276397
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val)
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His)
NM_000334.4(SCN4A):c.4930G>A (p.Val1644Met) rs775486265
NM_000334.4(SCN4A):c.4955G>A (p.Arg1652Lys) rs1314887157
NM_000334.4(SCN4A):c.4993G>C (p.Asp1665His) rs1567816038
NM_000334.4(SCN4A):c.5020A>G (p.Ile1674Val)
NM_000334.4(SCN4A):c.5033A>G (p.Asp1678Gly) rs1245539617
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=) rs372002602
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5104_5106GAG[1] (p.Glu1703del) rs1464481652
NM_000334.4(SCN4A):c.5105A>T (p.Glu1702Val)
NM_000334.4(SCN4A):c.5110_5112del (p.Lys1704del)
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys)
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=) rs373804267
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys)
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5291A>G (p.Asp1764Gly) rs1567815771
NM_000334.4(SCN4A):c.5292C>T (p.Asp1764=) rs773576176
NM_000334.4(SCN4A):c.5310G>T (p.Gly1770=) rs1349039203
NM_000334.4(SCN4A):c.5343C>T (p.Gly1781=) rs745441690
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu)
NM_000334.4(SCN4A):c.5375C>T (p.Pro1792Leu)
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr)
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg)
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu)
NM_000334.4(SCN4A):c.5420_5425del (p.Leu1807_Met1808del) rs781515976
NM_000334.4(SCN4A):c.5424G>A (p.Met1808Ile) rs201375413
NM_000334.4(SCN4A):c.5467C>A (p.Pro1823Thr)
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys)
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710
NM_000334.4(SCN4A):c.[4468T>C;4479G>A]

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