List of variants in gene GH-LCR, SCN4A 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: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 167

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HGVS	dbSNP	gnomAD frequency
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.2185T>C (p.Cys729Arg)	rs200025736	0.00013
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn)	rs761589948	0.00012
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.4386C>G (p.Ile1462Met)	rs763827415	0.00008
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg)	rs267604988	0.00007
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn)	rs199656266	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.4711C>T (p.Pro1571Ser)	rs772552529	0.00005
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.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.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.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.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.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.*1C>T
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.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.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.3682G>A (p.Asp1228Asn)
NM_000334.4(SCN4A):c.3732G>A (p.Lys1244=)
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.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.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.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.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)

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