ClinVar Miner

List of variants studied for Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.235C>T (p.Pro79Ser) rs376505442 0.00062
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser) rs201793080 0.00053
NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr) rs764134362 0.00046
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000334.4(SCN4A):c.1926G>T (p.Trp642Cys) rs781412058 0.00028
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu) rs201414160 0.00022
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser) rs187055074 0.00018
NM_000334.4(SCN4A):c.611C>T (p.Ala204Val) rs199859508 0.00018
NM_000334.4(SCN4A):c.2185T>C (p.Cys729Arg) rs200025736 0.00013
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948 0.00012
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys) rs368011562 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.3774+20A>G rs377552760 0.00011
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala) rs372635510 0.00011
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000334.4(SCN4A):c.841G>A (p.Val281Met) rs370289618 0.00009
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000334.4(SCN4A):c.365G>A (p.Arg122His) rs374529559 0.00006
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg) rs377572814 0.00006
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585 0.00006
NM_000334.4(SCN4A):c.4864G>A (p.Glu1622Lys) rs369430918 0.00006
NM_000334.4(SCN4A):c.5128C>T (p.Pro1710Ser) rs762735966 0.00006
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln) rs202155883 0.00005
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) rs150158100 0.00005
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr) rs369652972 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000334.4(SCN4A):c.1917G>T (p.Gln639His) rs375403086 0.00004
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096 0.00004
NM_000334.4(SCN4A):c.3185G>A (p.Arg1062His) rs769704334 0.00004
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683 0.00004
NM_000334.4(SCN4A):c.5233C>T (p.Arg1745Cys) rs749841448 0.00004
NM_000334.4(SCN4A):c.5264G>A (p.Arg1755His) rs373278632 0.00004
NM_000334.4(SCN4A):c.574C>T (p.Pro192Ser) rs751749964 0.00004
NM_000334.4(SCN4A):c.713C>T (p.Thr238Met) rs201661188 0.00004
NM_000334.4(SCN4A):c.857C>T (p.Pro286Leu) rs760518441 0.00004
NM_000334.4(SCN4A):c.2149G>A (p.Val717Met) rs770283788 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.3721-14C>G rs761700338 0.00003
NM_000334.4(SCN4A):c.4116G>A (p.Val1372=) rs755256694 0.00003
NM_000334.4(SCN4A):c.4240G>A (p.Val1414Ile) rs369929462 0.00003
NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn) rs1015807829 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00003
NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp) rs763866848 0.00003
NM_000334.4(SCN4A):c.164G>A (p.Arg55Gln) rs376523210 0.00002
NM_000334.4(SCN4A):c.181G>A (p.Gly61Ser) rs759771825 0.00002
NM_000334.4(SCN4A):c.2198T>C (p.Ile733Thr) rs753865616 0.00002
NM_000334.4(SCN4A):c.2479G>A (p.Gly827Arg) rs1028907866 0.00002
NM_000334.4(SCN4A):c.2802G>C (p.Glu934Asp) rs371920760 0.00002
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg) rs544082594 0.00002
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395 0.00002
NM_000334.4(SCN4A):c.3442-15C>A rs763401184 0.00002
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile) rs967530693 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000334.4(SCN4A):c.4994A>C (p.Asp1665Ala) rs758866720 0.00002
NM_000334.4(SCN4A):c.5086G>A (p.Ala1696Thr) rs769365503 0.00002
NM_000334.4(SCN4A):c.739G>C (p.Val247Leu) rs755321637 0.00002
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn) rs766055241 0.00001
NM_000334.4(SCN4A):c.1207A>G (p.Met403Val) rs566340596 0.00001
NM_000334.4(SCN4A):c.1299G>A (p.Leu433=) rs759176062 0.00001
NM_000334.4(SCN4A):c.147G>C (p.Glu49Asp) rs781147290 0.00001
NM_000334.4(SCN4A):c.151G>A (p.Glu51Lys) rs751390409 0.00001
NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln) rs1240011068 0.00001
NM_000334.4(SCN4A):c.1753A>G (p.Thr585Ala) rs1289461335 0.00001
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) rs80338784 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000334.4(SCN4A):c.2609C>T (p.Ala870Val) rs764806517 0.00001
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp) rs760713282 0.00001
NM_000334.4(SCN4A):c.2812G>A (p.Glu938Lys) rs374673348 0.00001
NM_000334.4(SCN4A):c.2990C>T (p.Ala997Val) rs760962949 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795 0.00001
NM_000334.4(SCN4A):c.3061C>T (p.Arg1021Cys) rs774176490 0.00001
NM_000334.4(SCN4A):c.307T>G (p.Phe103Val) rs554349260 0.00001
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr) rs772835617 0.00001
NM_000334.4(SCN4A):c.3145-5C>A rs750109872 0.00001
NM_000334.4(SCN4A):c.3238A>G (p.Met1080Val) rs201152347 0.00001
NM_000334.4(SCN4A):c.3441+4G>A rs765176007 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000334.4(SCN4A):c.3829A>T (p.Ile1277Phe) rs776750130 0.00001
NM_000334.4(SCN4A):c.4168A>T (p.Met1390Leu) rs754311975 0.00001
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124 0.00001
NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val) rs779470034 0.00001
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln) rs1210934866 0.00001
NM_000334.4(SCN4A):c.4393G>T (p.Ala1465Ser) rs770398125 0.00001
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr) rs778417596 0.00001
NM_000334.4(SCN4A):c.4706G>T (p.Gly1569Val) rs373017435 0.00001
NM_000334.4(SCN4A):c.4827C>T (p.Ser1609=) rs376689238 0.00001
NM_000334.4(SCN4A):c.4882G>A (p.Asp1628Asn) rs1004398583 0.00001
NM_000334.4(SCN4A):c.4915C>G (p.Arg1639Gly) rs776231847 0.00001
NM_000334.4(SCN4A):c.4937C>A (p.Thr1646Asn) rs1345007864 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.5033A>G (p.Asp1678Gly) rs1245539617 0.00001
NM_000334.4(SCN4A):c.5465C>A (p.Pro1822His) rs773666497 0.00001
NM_000334.4(SCN4A):c.5467C>A (p.Pro1823Thr) rs963907287 0.00001
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp) rs764718003 0.00001
NM_000334.4(SCN4A):c.752C>T (p.Ser251Leu) rs751884584 0.00001
NM_000334.4(SCN4A):c.*1C>T
NM_000334.4(SCN4A):c.-5C>T
NM_000334.4(SCN4A):c.1030G>A (p.Asp344Asn)
NM_000334.4(SCN4A):c.1043dup (p.Tyr349fs)
NM_000334.4(SCN4A):c.109G>A (p.Ala37Thr)
NM_000334.4(SCN4A):c.1121A>C (p.Glu374Ala)
NM_000334.4(SCN4A):c.1132A>G (p.Thr378Ala) rs2144807432
NM_000334.4(SCN4A):c.1138C>T (p.Arg380Trp)
NM_000334.4(SCN4A):c.1166del (p.Tyr389fs)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1242+6G>T
NM_000334.4(SCN4A):c.1250G>A (p.Arg417Gln)
NM_000334.4(SCN4A):c.1270A>G (p.Met424Val)
NM_000334.4(SCN4A):c.1301G>C (p.Gly434Ala)
NM_000334.4(SCN4A):c.1339G>A (p.Ala447Thr)
NM_000334.4(SCN4A):c.1362T>A (p.Asn454Lys)
NM_000334.4(SCN4A):c.1366G>A (p.Ala456Thr)
NM_000334.4(SCN4A):c.1380G>A (p.Glu460=)
NM_000334.4(SCN4A):c.1393GAG[2] (p.Glu467del)
NM_000334.4(SCN4A):c.1438G>C (p.Glu480Gln)
NM_000334.4(SCN4A):c.1452+1G>T
NM_000334.4(SCN4A):c.1480G>A (p.Gly494Arg)
NM_000334.4(SCN4A):c.1505A>G (p.His502Arg)
NM_000334.4(SCN4A):c.1533C>A (p.Asp511Glu)
NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys) rs143457794
NM_000334.4(SCN4A):c.1607A>T (p.Glu536Val)
NM_000334.4(SCN4A):c.1619C>T (p.Ala540Val)
NM_000334.4(SCN4A):c.1636C>T (p.Pro546Ser)
NM_000334.4(SCN4A):c.1666C>T (p.Leu556Phe)
NM_000334.4(SCN4A):c.1758C>G (p.Ile586Met)
NM_000334.4(SCN4A):c.1823A>G (p.Asn608Ser)
NM_000334.4(SCN4A):c.188A>G (p.Asn63Ser)
NM_000334.4(SCN4A):c.1897G>T (p.Asp633Tyr)
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val) rs1480788895
NM_000334.4(SCN4A):c.215C>T (p.Pro72Leu) rs1303471186
NM_000334.4(SCN4A):c.2214C>A (p.Asn738Lys)
NM_000334.4(SCN4A):c.2222G>A (p.Arg741His)
NM_000334.4(SCN4A):c.2297T>C (p.Met766Thr)
NM_000334.4(SCN4A):c.2303A>G (p.Asp768Gly)
NM_000334.4(SCN4A):c.2375T>C (p.Val792Ala)
NM_000334.4(SCN4A):c.2377-1G>A
NM_000334.4(SCN4A):c.2377-9A>C
NM_000334.4(SCN4A):c.2377G>T (p.Val793Phe)
NM_000334.4(SCN4A):c.2482C>A (p.Arg828Ser)
NM_000334.4(SCN4A):c.2575G>A (p.Gly859Arg)
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2599_2616dup (p.864_866AGE[5]) rs768289095
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del) rs760403755
NM_000334.4(SCN4A):c.2689A>G (p.Met897Val)
NM_000334.4(SCN4A):c.2690T>A (p.Met897Lys) rs370879135
NM_000334.4(SCN4A):c.274-20C>G
NM_000334.4(SCN4A):c.283G>A (p.Val95Ile)
NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys) rs1185395150
NM_000334.4(SCN4A):c.2912A>G (p.Lys971Arg)
NM_000334.4(SCN4A):c.2960G>A (p.Gly987Glu)
NM_000334.4(SCN4A):c.2968C>A (p.Pro990Thr)
NM_000334.4(SCN4A):c.3037C>G (p.Arg1013Gly)
NM_000334.4(SCN4A):c.3046A>C (p.Lys1016Gln)
NM_000334.4(SCN4A):c.3050G>C (p.Trp1017Ser)
NM_000334.4(SCN4A):c.3095G>C (p.Trp1032Ser)
NM_000334.4(SCN4A):c.3096G>T (p.Trp1032Cys)
NM_000334.4(SCN4A):c.3110T>C (p.Ile1037Thr)
NM_000334.4(SCN4A):c.3163A>C (p.Ile1055Leu)
NM_000334.4(SCN4A):c.3203C>T (p.Ala1068Val)
NM_000334.4(SCN4A):c.3253G>T (p.Val1085Leu)
NM_000334.4(SCN4A):c.3262G>A (p.Gly1088Ser) rs1282585219
NM_000334.4(SCN4A):c.3284A>G (p.Asn1095Ser)
NM_000334.4(SCN4A):c.3310A>G (p.Ile1104Val)
NM_000334.4(SCN4A):c.3313G>A (p.Val1105Met) rs756884948
NM_000334.4(SCN4A):c.3333C>G (p.Ser1111Arg)
NM_000334.4(SCN4A):c.3377A>G (p.Lys1126Arg)
NM_000334.4(SCN4A):c.3380C>T (p.Ser1127Phe)
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3424C>G (p.Arg1142Gly)
NM_000334.4(SCN4A):c.343A>G (p.Ser115Gly)
NM_000334.4(SCN4A):c.3442-10T>A
NM_000334.4(SCN4A):c.3454G>A (p.Ala1152Thr)
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser) rs80338958
NM_000334.4(SCN4A):c.3578C>T (p.Thr1193Ile)
NM_000334.4(SCN4A):c.3623A>G (p.Glu1208Gly)
NM_000334.4(SCN4A):c.3628G>C (p.Glu1210Gln)
NM_000334.4(SCN4A):c.3633C>A (p.Ser1211Arg)
NM_000334.4(SCN4A):c.3636C>T (p.Leu1212=)
NM_000334.4(SCN4A):c.3637A>T (p.Met1213Leu)
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu) rs374529559
NM_000334.4(SCN4A):c.3682G>A (p.Asp1228Asn)
NM_000334.4(SCN4A):c.3732G>A (p.Lys1244=)
NM_000334.4(SCN4A):c.383T>A (p.Leu128His)
NM_000334.4(SCN4A):c.3872T>A (p.Ile1291Asn)
NM_000334.4(SCN4A):c.3891C>T (p.Asn1297=)
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3986A>G (p.Lys1329Arg)
NM_000334.4(SCN4A):c.412A>G (p.Met138Val)
NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) rs118047588
NM_000334.4(SCN4A):c.4223G>A (p.Arg1408His)
NM_000334.4(SCN4A):c.4243G>A (p.Gly1415Ser)
NM_000334.4(SCN4A):c.4305C>T (p.Asp1435=)
NM_000334.4(SCN4A):c.4351C>T (p.Arg1451Cys)
NM_000334.4(SCN4A):c.4360C>A (p.Arg1454=) rs879253789
NM_000334.4(SCN4A):c.4538T>C (p.Ile1513Thr)
NM_000334.4(SCN4A):c.4549T>A (p.Phe1517Ile)
NM_000334.4(SCN4A):c.4558G>A (p.Glu1520Lys) rs898253712
NM_000334.4(SCN4A):c.4573A>G (p.Ser1525Gly)
NM_000334.4(SCN4A):c.4621C>A (p.Leu1541Ile)
NM_000334.4(SCN4A):c.4665del (p.Asn1556fs)
NM_000334.4(SCN4A):c.4668C>G (p.Asn1556Lys)
NM_000334.4(SCN4A):c.4678C>T (p.Pro1560Ser)
NM_000334.4(SCN4A):c.4754C>T (p.Ser1585Phe)
NM_000334.4(SCN4A):c.4764C>G (p.Ile1588Met)
NM_000334.4(SCN4A):c.4765G>T (p.Val1589Leu)
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.483-3C>G rs759754258
NM_000334.4(SCN4A):c.483-3dup rs753162147
NM_000334.4(SCN4A):c.4831C>A (p.Pro1611Thr)
NM_000334.4(SCN4A):c.4837G>C (p.Gly1613Arg)
NM_000334.4(SCN4A):c.4886C>A (p.Pro1629His)
NM_000334.4(SCN4A):c.4916G>T (p.Arg1639Leu)
NM_000334.4(SCN4A):c.4930G>T (p.Val1644Leu)
NM_000334.4(SCN4A):c.4955G>A (p.Arg1652Lys) rs1314887157
NM_000334.4(SCN4A):c.4955G>T (p.Arg1652Met)
NM_000334.4(SCN4A):c.5009C>T (p.Pro1670Leu)
NM_000334.4(SCN4A):c.5061_5062insAGGTGACT (p.Leu1688delinsArgTer)
NM_000334.4(SCN4A):c.506C>A (p.Thr169Asn)
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5146G>A (p.Glu1716Lys)
NM_000334.4(SCN4A):c.5152A>G (p.Ile1718Val)
NM_000334.4(SCN4A):c.5156C>A (p.Thr1719Asn)
NM_000334.4(SCN4A):c.5188T>C (p.Cys1730Arg) rs1567815888
NM_000334.4(SCN4A):c.5192C>T (p.Ala1731Val)
NM_000334.4(SCN4A):c.51G>T (p.Leu17Phe)
NM_000334.4(SCN4A):c.5210C>T (p.Ala1737Val)
NM_000334.4(SCN4A):c.5297C>T (p.Pro1766Leu)
NM_000334.4(SCN4A):c.5327T>C (p.Met1776Thr)
NM_000334.4(SCN4A):c.5359AGC[1] (p.Ser1789del)
NM_000334.4(SCN4A):c.5398G>A (p.Asp1800Asn)
NM_000334.4(SCN4A):c.5398G>T (p.Asp1800Tyr)
NM_000334.4(SCN4A):c.5420_5425del6 rs781515976
NM_000334.4(SCN4A):c.5431_5434dup (p.Pro1812fs)
NM_000334.4(SCN4A):c.5468C>T (p.Pro1823Leu)
NM_000334.4(SCN4A):c.5474A>T (p.Gln1825Leu)
NM_000334.4(SCN4A):c.55C>G (p.Pro19Ala) rs772628295
NM_000334.4(SCN4A):c.569G>A (p.Arg190Gln)
NM_000334.4(SCN4A):c.641A>G (p.Asn214Ser)
NM_000334.4(SCN4A):c.721G>C (p.Gly241Arg)
NM_000334.4(SCN4A):c.788T>C (p.Val263Ala)
NM_000334.4(SCN4A):c.870_878del (p.Asn291_Thr293del)
NM_000334.4(SCN4A):c.881G>A (p.Trp294Ter)
NM_000334.4(SCN4A):c.886_903dup (p.Ser296_Tyr301dup) rs769414184
NM_000334.4(SCN4A):c.897GTGGTACGGCAATGACAC[3] (p.Asn309_Glu310insAspThrTrpTyrGlyAsnAspThrTrpTyrGlyAsn)
NM_000334.4(SCN4A):c.936G>A (p.Trp312Ter)
NM_000334.4(SCN4A):c.940G>A (p.Gly314Ser)
NM_000334.4(SCN4A):c.944A>G (p.Asn315Ser)

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