ClinVar Miner

List of variants reported as likely benign for Hyperkalemic periodic paralysis by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 567
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg) rs181292216 0.00069
NM_000334.4(SCN4A):c.235C>T (p.Pro79Ser) rs376505442 0.00062
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768 0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_000334.4(SCN4A):c.2188G>A (p.Val730Met) rs113462659 0.00058
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115 0.00056
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys) rs199713025 0.00048
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000334.4(SCN4A):c.951A>G (p.Ser317=) rs185246154 0.00044
NM_000334.4(SCN4A):c.5424G>A (p.Met1808Ile) rs201375413 0.00042
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946 0.00038
NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser) rs199651516 0.00030
NM_000334.4(SCN4A):c.1845+7A>C rs141021600 0.00028
NM_000334.4(SCN4A):c.1623C>G (p.His541Gln) rs538390338 0.00027
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile) rs367988986 0.00027
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_000334.4(SCN4A):c.1242+15A>C rs750532418 0.00026
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086 0.00026
NM_000334.4(SCN4A):c.2955C>T (p.Pro985=) rs375621334 0.00026
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110 0.00026
NM_000334.4(SCN4A):c.1101-16C>T rs376459843 0.00024
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=) rs368024629 0.00021
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=) rs372002602 0.00019
NM_000334.4(SCN4A):c.3285C>T (p.Asn1095=) rs371401377 0.00018
NM_000334.4(SCN4A):c.3318+20C>G rs368263593 0.00017
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913 0.00017
NM_000334.4(SCN4A):c.5472G>A (p.Gly1824=) rs576801452 0.00015
NM_000334.4(SCN4A):c.552C>T (p.Asp184=) rs370730079 0.00014
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val) rs149907018 0.00011
NM_000334.4(SCN4A):c.3774+20A>G rs377552760 0.00011
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000334.4(SCN4A):c.1607-20T>C rs374159735 0.00010
NM_000334.4(SCN4A):c.4410G>A (p.Thr1470=) rs534861830 0.00010
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449 0.00010
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg) rs376833596 0.00010
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=) rs776552053 0.00009
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 0.00009
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=) rs375349902 0.00009
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=) rs540328974 0.00009
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=) rs538173069 0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000334.4(SCN4A):c.1845+12del rs756462178 0.00008
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=) rs760183656 0.00008
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=) rs186181122 0.00008
NM_000334.4(SCN4A):c.2295C>A (p.Thr765=) rs370434474 0.00007
NM_000334.4(SCN4A):c.238C>T (p.Leu80=) rs768080216 0.00007
NM_000334.4(SCN4A):c.483-8C>T rs566047339 0.00007
NM_000334.4(SCN4A):c.1173C>T (p.Thr391=) rs376062556 0.00006
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=) rs368811155 0.00006
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926 0.00006
NM_000334.4(SCN4A):c.2610G>A (p.Ala870=) rs375918619 0.00006
NM_000334.4(SCN4A):c.3018C>T (p.Tyr1006=) rs755880799 0.00006
NM_000334.4(SCN4A):c.3027C>T (p.Ile1009=) rs750690287 0.00006
NM_000334.4(SCN4A):c.45G>A (p.Glu15=) rs763166498 0.00006
NM_000334.4(SCN4A):c.4680G>A (p.Pro1560=) rs370207597 0.00006
NM_000334.4(SCN4A):c.4719C>T (p.Ile1573=) rs562551941 0.00006
NM_000334.4(SCN4A):c.5436C>A (p.Pro1812=) rs377620682 0.00006
NM_000334.4(SCN4A):c.1461C>T (p.Ala487=) rs541858248 0.00005
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) rs760067411 0.00005
NM_000334.4(SCN4A):c.2721C>T (p.Leu907=) rs376432808 0.00005
NM_000334.4(SCN4A):c.459G>A (p.Pro153=) rs201227173 0.00005
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=) rs773864470 0.00005
NM_000334.4(SCN4A):c.4881C>T (p.Phe1627=) rs771914246 0.00005
NM_000334.4(SCN4A):c.5085C>T (p.Asp1695=) rs755769915 0.00005
NM_000334.4(SCN4A):c.5343C>T (p.Gly1781=) rs745441690 0.00005
NM_000334.4(SCN4A):c.704-8G>A rs762393514 0.00005
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=) rs375655445 0.00004
NM_000334.4(SCN4A):c.1221T>C (p.Tyr407=) rs1450986503 0.00004
NM_000334.4(SCN4A):c.1353C>T (p.Ala451=) rs779308374 0.00004
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile) rs527384137 0.00004
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) rs80266947 0.00004
NM_000334.4(SCN4A):c.2112G>A (p.Thr704=) rs374119331 0.00004
NM_000334.4(SCN4A):c.2235T>C (p.His745=) rs777157991 0.00004
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512 0.00004
NM_000334.4(SCN4A):c.2376+10G>A rs1194053149 0.00004
NM_000334.4(SCN4A):c.2853+8G>A rs377221069 0.00004
NM_000334.4(SCN4A):c.2886G>A (p.Ser962=) rs779571330 0.00004
NM_000334.4(SCN4A):c.3442-18G>T rs377676692 0.00004
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=) rs201346556 0.00004
NM_000334.4(SCN4A):c.3721-20C>T rs758053088 0.00004
NM_000334.4(SCN4A):c.3939G>A (p.Thr1313=) rs769542012 0.00004
NM_000334.4(SCN4A):c.4289-4G>A rs750364111 0.00004
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=) rs538968877 0.00004
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=) rs752523459 0.00004
NM_000334.4(SCN4A):c.5145C>T (p.Tyr1715=) rs768902509 0.00004
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866 0.00004
NM_000334.4(SCN4A):c.611+9G>A rs541455106 0.00004
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) rs201411232 0.00004
NM_000334.4(SCN4A):c.939C>T (p.Tyr313=) rs761930114 0.00004
NM_000334.4(SCN4A):c.1539G>A (p.Ser513=) rs758833537 0.00003
NM_000334.4(SCN4A):c.1593C>T (p.Ser531=) rs139988178 0.00003
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=) rs564134251 0.00003
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=) rs189925781 0.00003
NM_000334.4(SCN4A):c.2163G>A (p.Leu721=) rs371312493 0.00003
NM_000334.4(SCN4A):c.237C>T (p.Pro79=) rs374261960 0.00003
NM_000334.4(SCN4A):c.2574C>T (p.Leu858=) rs184107335 0.00003
NM_000334.4(SCN4A):c.3318+15G>A rs371928013 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 0.00003
NM_000334.4(SCN4A):c.4116G>A (p.Val1372=) rs755256694 0.00003
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=) rs267604989 0.00003
NM_000334.4(SCN4A):c.4288+7G>C rs773803283 0.00003
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=) rs372442108 0.00003
NM_000334.4(SCN4A):c.4545T>C (p.Asp1515=) rs924795809 0.00003
NM_000334.4(SCN4A):c.4704C>T (p.Cys1568=) rs548305586 0.00003
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=) rs774089795 0.00003
NM_000334.4(SCN4A):c.855G>A (p.Pro285=) rs763725074 0.00003
NM_000334.4(SCN4A):c.879G>A (p.Thr293=) rs780568994 0.00003
NM_000334.4(SCN4A):c.96G>A (p.Ala32=) rs575515777 0.00003
NM_000334.4(SCN4A):c.1036+20C>T rs755836242 0.00002
NM_000334.4(SCN4A):c.1293C>T (p.Ile431=) rs753010557 0.00002
NM_000334.4(SCN4A):c.1332C>T (p.Ala444=) rs761874460 0.00002
NM_000334.4(SCN4A):c.150C>T (p.Pro50=) rs374359880 0.00002
NM_000334.4(SCN4A):c.1800C>T (p.Tyr600=) rs778746718 0.00002
NM_000334.4(SCN4A):c.1845+11G>T rs761523703 0.00002
NM_000334.4(SCN4A):c.1983C>T (p.Asn661=) rs370216331 0.00002
NM_000334.4(SCN4A):c.2262C>T (p.Val754=) rs372634288 0.00002
NM_000334.4(SCN4A):c.2439G>A (p.Ser813=) rs137890985 0.00002
NM_000334.4(SCN4A):c.2469G>A (p.Gln823=) rs1020010363 0.00002
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.2784C>T (p.Ser928=) rs775693710 0.00002
NM_000334.4(SCN4A):c.2989+7G>A rs558907834 0.00002
NM_000334.4(SCN4A):c.2990-8C>T rs369430465 0.00002
NM_000334.4(SCN4A):c.2994C>T (p.Cys998=) rs185803223 0.00002
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg) rs544082594 0.00002
NM_000334.4(SCN4A):c.3039T>C (p.Arg1013=) rs1319435457 0.00002
NM_000334.4(SCN4A):c.3318+17T>C rs766325793 0.00002
NM_000334.4(SCN4A):c.3402G>T (p.Leu1134=) rs769404443 0.00002
NM_000334.4(SCN4A):c.3442-15C>A rs763401184 0.00002
NM_000334.4(SCN4A):c.3525C>T (p.Ser1175=) rs750868036 0.00002
NM_000334.4(SCN4A):c.3681C>T (p.Tyr1227=) rs368851367 0.00002
NM_000334.4(SCN4A):c.3876C>T (p.Gly1292=) rs1461420199 0.00002
NM_000334.4(SCN4A):c.4359G>A (p.Ala1453=) rs757915411 0.00002
NM_000334.4(SCN4A):c.4419C>T (p.Phe1473=) rs374319193 0.00002
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=) rs753725579 0.00002
NM_000334.4(SCN4A):c.483-7C>T rs780933125 0.00002
NM_000334.4(SCN4A):c.4878G>A (p.Lys1626=) rs374337084 0.00002
NM_000334.4(SCN4A):c.703+9G>A rs374667853 0.00002
NM_000334.4(SCN4A):c.897G>A (p.Thr299=) rs553636410 0.00002
NM_000334.4(SCN4A):c.969G>A (p.Thr323=) rs1429424012 0.00002
NM_000334.4(SCN4A):c.1243-5C>A rs374257387 0.00001
NM_000334.4(SCN4A):c.1275C>A (p.Ile425=) rs1392358857 0.00001
NM_000334.4(SCN4A):c.1527C>T (p.Ser509=) rs577453030 0.00001
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=) rs373819078 0.00001
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=) rs376538198 0.00001
NM_000334.4(SCN4A):c.1596C>T (p.Asp532=) rs911873120 0.00001
NM_000334.4(SCN4A):c.1606+8C>A rs575279008 0.00001
NM_000334.4(SCN4A):c.1607-9C>G rs1388937963 0.00001
NM_000334.4(SCN4A):c.1647C>T (p.Tyr549=) rs368996214 0.00001
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=) rs1208231013 0.00001
NM_000334.4(SCN4A):c.1905C>T (p.Tyr635=) rs774304336 0.00001
NM_000334.4(SCN4A):c.1975C>T (p.Leu659=) rs764575691 0.00001
NM_000334.4(SCN4A):c.2010C>T (p.Ser670=) rs763017199 0.00001
NM_000334.4(SCN4A):c.2097G>A (p.Ala699=) rs765222494 0.00001
NM_000334.4(SCN4A):c.2145C>T (p.Ala715=) rs1909103840 0.00001
NM_000334.4(SCN4A):c.216G>A (p.Pro72=) rs768591136 0.00001
NM_000334.4(SCN4A):c.219G>A (p.Pro73=) rs779890709 0.00001
NM_000334.4(SCN4A):c.2208C>T (p.Asp736=) rs751675273 0.00001
NM_000334.4(SCN4A):c.2223C>T (p.Arg741=) rs1041781133 0.00001
NM_000334.4(SCN4A):c.2274G>C (p.Leu758=) rs368537002 0.00001
NM_000334.4(SCN4A):c.228C>T (p.Ile76=) rs1189122757 0.00001
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207 0.00001
NM_000334.4(SCN4A):c.2364C>T (p.Ile788=) rs768158707 0.00001
NM_000334.4(SCN4A):c.2386C>T (p.Leu796=) rs750053946 0.00001
NM_000334.4(SCN4A):c.2586C>T (p.Asp862=) rs756161095 0.00001
NM_000334.4(SCN4A):c.2625C>T (p.Pro875=) rs533858326 0.00001
NM_000334.4(SCN4A):c.2628G>A (p.Glu876=) rs368479778 0.00001
NM_000334.4(SCN4A):c.2715C>T (p.Ser905=) rs1597973581 0.00001
NM_000334.4(SCN4A):c.273+19T>G rs756421900 0.00001
NM_000334.4(SCN4A):c.273+7G>A rs369039376 0.00001
NM_000334.4(SCN4A):c.2760G>A (p.Leu920=) rs762808534 0.00001
NM_000334.4(SCN4A):c.2797C>G (p.Leu933Val) rs757508857 0.00001
NM_000334.4(SCN4A):c.2826C>T (p.Asp942=) rs1183710096 0.00001
NM_000334.4(SCN4A):c.282C>T (p.Ile94=) rs563602704 0.00001
NM_000334.4(SCN4A):c.2853+7C>T rs760934874 0.00001
NM_000334.4(SCN4A):c.2854-19G>A rs1280578508 0.00001
NM_000334.4(SCN4A):c.291C>T (p.Asn97=) rs770919076 0.00001
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=) rs372555830 0.00001
NM_000334.4(SCN4A):c.2990-4T>A rs1346938988 0.00001
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795 0.00001
NM_000334.4(SCN4A):c.3099C>T (p.Phe1033=) rs753862870 0.00001
NM_000334.4(SCN4A):c.3129C>T (p.Leu1043=) rs747471262 0.00001
NM_000334.4(SCN4A):c.3145-5C>A rs750109872 0.00001
NM_000334.4(SCN4A):c.3204C>T (p.Ala1068=) rs780229549 0.00001
NM_000334.4(SCN4A):c.3228C>T (p.Phe1076=) rs939978015 0.00001
NM_000334.4(SCN4A):c.3261C>T (p.Tyr1087=) rs534552884 0.00001
NM_000334.4(SCN4A):c.3318+14C>T rs199864927 0.00001
NM_000334.4(SCN4A):c.337C>T (p.Leu113=) rs553234696 0.00001
NM_000334.4(SCN4A):c.3390A>G (p.Thr1130=) rs774845449 0.00001
NM_000334.4(SCN4A):c.3453C>T (p.Asn1151=) rs768187283 0.00001
NM_000334.4(SCN4A):c.345C>T (p.Ser115=) rs1909641231 0.00001
NM_000334.4(SCN4A):c.3618G>A (p.Lys1206=) rs757658622 0.00001
NM_000334.4(SCN4A):c.3642C>T (p.His1214=) rs577108088 0.00001
NM_000334.4(SCN4A):c.3678C>T (p.Asn1226=) rs1218404418 0.00001
NM_000334.4(SCN4A):c.3720+20C>A rs1187897404 0.00001
NM_000334.4(SCN4A):c.3720+7G>A rs553870552 0.00001
NM_000334.4(SCN4A):c.3775-12T>C rs1191297022 0.00001
NM_000334.4(SCN4A):c.3775-5C>T rs777201502 0.00001
NM_000334.4(SCN4A):c.3858C>T (p.Thr1286=) rs538933926 0.00001
NM_000334.4(SCN4A):c.393-4C>A rs958817327 0.00001
NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=) rs747602881 0.00001
NM_000334.4(SCN4A):c.4017+8C>T rs201269475 0.00001
NM_000334.4(SCN4A):c.4053G>A (p.Thr1351=) rs376395544 0.00001
NM_000334.4(SCN4A):c.4200C>T (p.Cys1400=) rs760454638 0.00001
NM_000334.4(SCN4A):c.4218C>G (p.Ala1406=) rs770836153 0.00001
NM_000334.4(SCN4A):c.4239C>T (p.Thr1413=) rs779956632 0.00001
NM_000334.4(SCN4A):c.4266G>A (p.Val1422=) rs1908587559 0.00001
NM_000334.4(SCN4A):c.4269C>T (p.Val1423=) rs757880810 0.00001
NM_000334.4(SCN4A):c.4288+15C>A rs1006841428 0.00001
NM_000334.4(SCN4A):c.4289-5C>T rs1396119458 0.00001
NM_000334.4(SCN4A):c.4389C>T (p.Arg1463=) rs763124097 0.00001
NM_000334.4(SCN4A):c.4398G>A (p.Lys1466=) rs1384075799 0.00001
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=) rs758113478 0.00001
NM_000334.4(SCN4A):c.4497C>T (p.Phe1499=) rs572237501 0.00001
NM_000334.4(SCN4A):c.4590C>T (p.Phe1530=) rs199824534 0.00001
NM_000334.4(SCN4A):c.4608C>T (p.Ala1536=) rs764476134 0.00001
NM_000334.4(SCN4A):c.4617C>T (p.Asp1539=) rs772431686 0.00001
NM_000334.4(SCN4A):c.4782C>T (p.Ile1594=) rs190975011 0.00001
NM_000334.4(SCN4A):c.483-20G>A rs771069029 0.00001
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349 0.00001
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=) rs756370516 0.00001
NM_000334.4(SCN4A):c.4890C>T (p.Asp1630=) rs781276397 0.00001
NM_000334.4(SCN4A):c.48C>T (p.Cys16=) rs765207978 0.00001
NM_000334.4(SCN4A):c.4950G>A (p.Pro1650=) rs375995481 0.00001
NM_000334.4(SCN4A):c.4971C>T (p.Asn1657=) rs1307196671 0.00001
NM_000334.4(SCN4A):c.4983C>T (p.Leu1661=) rs1908520604 0.00001
NM_000334.4(SCN4A):c.4995C>T (p.Asp1665=) rs750776495 0.00001
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430 0.00001
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=) rs766569872 0.00001
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454 0.00001
NM_000334.4(SCN4A):c.5346C>T (p.His1782=) rs1567815713 0.00001
NM_000334.4(SCN4A):c.5352T>C (p.Asn1784=) rs374079457 0.00001
NM_000334.4(SCN4A):c.5376G>A (p.Pro1792=) rs765644422 0.00001
NM_000334.4(SCN4A):c.5394A>G (p.Ala1798=) rs916993526 0.00001
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866 0.00001
NM_000334.4(SCN4A):c.54C>T (p.Arg18=) rs775998468 0.00001
NM_000334.4(SCN4A):c.611+19A>G rs771766927 0.00001
NM_000334.4(SCN4A):c.612-17C>T rs1445520678 0.00001
NM_000334.4(SCN4A):c.703+18G>A rs561981114 0.00001
NM_000334.4(SCN4A):c.704-10C>T rs1909520562 0.00001
NM_000334.4(SCN4A):c.786C>T (p.Ser262=) rs746749167 0.00001
NM_000334.4(SCN4A):c.810G>A (p.Gln270=) rs755446880 0.00001
NM_000334.4(SCN4A):c.858G>A (p.Pro286=) rs560230431 0.00001
NM_000334.4(SCN4A):c.1008T>C (p.Phe336=) rs2144809793
NM_000334.4(SCN4A):c.1023C>T (p.Tyr341=) rs2144809750
NM_000334.4(SCN4A):c.1032T>C (p.Asp344=)
NM_000334.4(SCN4A):c.1036+12_1036+23del
NM_000334.4(SCN4A):c.1036+13A>G
NM_000334.4(SCN4A):c.1036+16G>A
NM_000334.4(SCN4A):c.1036+8T>C
NM_000334.4(SCN4A):c.1037-17G>A
NM_000334.4(SCN4A):c.1037-6C>T
NM_000334.4(SCN4A):c.1038G>C (p.Gly346=)
NM_000334.4(SCN4A):c.1065C>T (p.Asn355=)
NM_000334.4(SCN4A):c.1080T>C (p.Cys360=) rs757081435
NM_000334.4(SCN4A):c.1100+10del
NM_000334.4(SCN4A):c.1100+15G>C rs533321924
NM_000334.4(SCN4A):c.1101-13G>C
NM_000334.4(SCN4A):c.1113G>A (p.Glu371=)
NM_000334.4(SCN4A):c.111C>A (p.Ala37=)
NM_000334.4(SCN4A):c.1125C>T (p.Cys375=)
NM_000334.4(SCN4A):c.112C>A (p.Arg38=) rs776201356
NM_000334.4(SCN4A):c.1134C>T (p.Thr378=) rs762198335
NM_000334.4(SCN4A):c.1158C>T (p.Tyr386=) rs745394242
NM_000334.4(SCN4A):c.1170C>T (p.Asp390=)
NM_000334.4(SCN4A):c.1242+20G>A
NM_000334.4(SCN4A):c.1242+7_1242+18del rs1909434763
NM_000334.4(SCN4A):c.1243-10C>A
NM_000334.4(SCN4A):c.1243-17_1243-3dup rs771943636
NM_000334.4(SCN4A):c.1243-7C>T
NM_000334.4(SCN4A):c.1243-9C>T
NM_000334.4(SCN4A):c.1278C>T (p.Phe426=)
NM_000334.4(SCN4A):c.1323G>C (p.Leu441=)
NM_000334.4(SCN4A):c.1326C>A (p.Ile442=)
NM_000334.4(SCN4A):c.1338G>A (p.Val446=) rs796737034
NM_000334.4(SCN4A):c.1377C>A (p.Ala459=) rs781392555
NM_000334.4(SCN4A):c.1425C>T (p.Phe475=)
NM_000334.4(SCN4A):c.1452+19G>A
NM_000334.4(SCN4A):c.1453-8G>T rs1909349500
NM_000334.4(SCN4A):c.1500A>G (p.Pro500=)
NM_000334.4(SCN4A):c.1506T>C (p.His502=)
NM_000334.4(SCN4A):c.1536A>C (p.Thr512=)
NM_000334.4(SCN4A):c.1539G>C (p.Ser513=) rs758833537
NM_000334.4(SCN4A):c.1539G>T (p.Ser513=) rs758833537
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=) rs373819078
NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys) rs143457794
NM_000334.4(SCN4A):c.1590C>T (p.Ile530=)
NM_000334.4(SCN4A):c.1606+10T>C rs924271388
NM_000334.4(SCN4A):c.1606+10_1606+94del rs1909334869
NM_000334.4(SCN4A):c.1606+15C>T
NM_000334.4(SCN4A):c.1606+16C>A
NM_000334.4(SCN4A):c.1606+16C>T
NM_000334.4(SCN4A):c.1606+17C>G
NM_000334.4(SCN4A):c.1606+20G>T rs73326363
NM_000334.4(SCN4A):c.1607-19G>A
NM_000334.4(SCN4A):c.1635A>G (p.Pro545=)
NM_000334.4(SCN4A):c.163C>A (p.Arg55=) rs754070476
NM_000334.4(SCN4A):c.1683C>T (p.Cys561=)
NM_000334.4(SCN4A):c.1693C>T (p.Leu565=)
NM_000334.4(SCN4A):c.171C>T (p.Asp57=) rs1415923721
NM_000334.4(SCN4A):c.1734G>A (p.Pro578=) rs1216814077
NM_000334.4(SCN4A):c.1734G>C (p.Pro578=)
NM_000334.4(SCN4A):c.1809G>A (p.Thr603=)
NM_000334.4(SCN4A):c.183C>G (p.Gly61=) rs2143027485
NM_000334.4(SCN4A):c.1845+14G>A
NM_000334.4(SCN4A):c.1845+16G>A
NM_000334.4(SCN4A):c.1845+17G>A
NM_000334.4(SCN4A):c.1845+18A>C rs775429476
NM_000334.4(SCN4A):c.1845+18A>T rs775429476
NM_000334.4(SCN4A):c.1846-19G>T
NM_000334.4(SCN4A):c.1848C>A (p.Val616=)
NM_000334.4(SCN4A):c.1929T>C (p.Asn643=) rs2144795628
NM_000334.4(SCN4A):c.1947C>A (p.Ile649=) rs564134251
NM_000334.4(SCN4A):c.1986A>C (p.Val662=)
NM_000334.4(SCN4A):c.1995G>A (p.Leu665=)
NM_000334.4(SCN4A):c.2001G>A (p.Val667=)
NM_000334.4(SCN4A):c.2010C>A (p.Ser670=)
NM_000334.4(SCN4A):c.2016T>C (p.Arg672=) rs988857421
NM_000334.4(SCN4A):c.2019+10del rs1386474833
NM_000334.4(SCN4A):c.2019+13C>T rs772218988
NM_000334.4(SCN4A):c.2020-18G>A
NM_000334.4(SCN4A):c.2020-4G>T
NM_000334.4(SCN4A):c.2061C>T (p.Asn687=) rs1482355253
NM_000334.4(SCN4A):c.2067C>A (p.Leu689=)
NM_000334.4(SCN4A):c.2107C>T (p.Leu703=)
NM_000334.4(SCN4A):c.2112G>C (p.Thr704=)
NM_000334.4(SCN4A):c.213C>T (p.Pro71=) rs2143027400
NM_000334.4(SCN4A):c.2163G>C (p.Leu721=) rs371312493
NM_000334.4(SCN4A):c.2184G>A (p.Glu728=) rs779766143
NM_000334.4(SCN4A):c.2187C>T (p.Cys729=) rs749942058
NM_000334.4(SCN4A):c.2241C>T (p.Phe747=) rs1188601087
NM_000334.4(SCN4A):c.2259C>T (p.Ile753=)
NM_000334.4(SCN4A):c.225C>T (p.Val75=)
NM_000334.4(SCN4A):c.2277C>T (p.Cys759=)
NM_000334.4(SCN4A):c.2292G>A (p.Glu764=) rs1555603112
NM_000334.4(SCN4A):c.2295C>T (p.Thr765=)
NM_000334.4(SCN4A):c.2376+14G>A
NM_000334.4(SCN4A):c.2379C>T (p.Val793=)
NM_000334.4(SCN4A):c.2385C>T (p.Asn795=)
NM_000334.4(SCN4A):c.2401C>T (p.Leu801=)
NM_000334.4(SCN4A):c.2418C>T (p.Ser806=)
NM_000334.4(SCN4A):c.2436C>T (p.Ala812=)
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=) rs754110462
NM_000334.4(SCN4A):c.2460C>T (p.Asn820=)
NM_000334.4(SCN4A):c.2490G>A (p.Lys830=)
NM_000334.4(SCN4A):c.2523G>A (p.Leu841=)
NM_000334.4(SCN4A):c.2523G>C (p.Leu841=)
NM_000334.4(SCN4A):c.2568C>T (p.Leu856=)
NM_000334.4(SCN4A):c.2571C>T (p.Ser857=)
NM_000334.4(SCN4A):c.2667G>A (p.Lys889=)
NM_000334.4(SCN4A):c.2700T>C (p.Ala900=) rs1193886090
NM_000334.4(SCN4A):c.2718C>T (p.Ser906=)
NM_000334.4(SCN4A):c.273+17G>A
NM_000334.4(SCN4A):c.273+8C>A rs1167045006
NM_000334.4(SCN4A):c.2739C>T (p.Asn913=)
NM_000334.4(SCN4A):c.2814G>A (p.Glu938=)
NM_000334.4(SCN4A):c.2823C>T (p.Thr941=)
NM_000334.4(SCN4A):c.2829T>C (p.Thr943=) rs2144786514
NM_000334.4(SCN4A):c.2832C>T (p.Phe944=) rs2144786504
NM_000334.4(SCN4A):c.2853+10G>A rs771981248
NM_000334.4(SCN4A):c.2853+18C>G
NM_000334.4(SCN4A):c.2854-4G>A
NM_000334.4(SCN4A):c.2854-6C>T rs1311365592
NM_000334.4(SCN4A):c.2859G>A (p.Pro953=)
NM_000334.4(SCN4A):c.2889C>A (p.Ser963=) rs757881584
NM_000334.4(SCN4A):c.2889C>T (p.Ser963=) rs757881584
NM_000334.4(SCN4A):c.2916C>T (p.Pro972=)
NM_000334.4(SCN4A):c.2937G>A (p.Glu979=)
NM_000334.4(SCN4A):c.2952C>T (p.Asn984=)
NM_000334.4(SCN4A):c.2961G>A (p.Gly987=) rs1447182115
NM_000334.4(SCN4A):c.2973G>A (p.Glu991=)
NM_000334.4(SCN4A):c.2989+15C>T
NM_000334.4(SCN4A):c.2989+18C>G rs2144784248
NM_000334.4(SCN4A):c.2990-18C>T
NM_000334.4(SCN4A):c.2990-20G>T
NM_000334.4(SCN4A):c.2990-8C>G
NM_000334.4(SCN4A):c.2990-9C>A
NM_000334.4(SCN4A):c.3030C>T (p.Ser1010=)
NM_000334.4(SCN4A):c.3058C>T (p.Leu1020=)
NM_000334.4(SCN4A):c.3066G>A (p.Arg1022=)
NM_000334.4(SCN4A):c.3084C>T (p.Val1028=)
NM_000334.4(SCN4A):c.3123C>A (p.Ile1041=)
NM_000334.4(SCN4A):c.3144+11C>T
NM_000334.4(SCN4A):c.3145-7C>T
NM_000334.4(SCN4A):c.3147C>T (p.Ala1049=)
NM_000334.4(SCN4A):c.3150C>T (p.Phe1050=)
NM_000334.4(SCN4A):c.3300C>T (p.Leu1100=)
NM_000334.4(SCN4A):c.3309C>T (p.Leu1103=)
NM_000334.4(SCN4A):c.3312C>T (p.Ile1104=) rs779189351
NM_000334.4(SCN4A):c.3318+18G>A
NM_000334.4(SCN4A):c.3318+20C>T rs368263593
NM_000334.4(SCN4A):c.3318+7C>T
NM_000334.4(SCN4A):c.3318+9C>T
NM_000334.4(SCN4A):c.3319-12C>T rs766233648
NM_000334.4(SCN4A):c.3319-4G>A
NM_000334.4(SCN4A):c.3357C>T (p.Tyr1119=) rs903219930
NM_000334.4(SCN4A):c.3394C>A (p.Arg1132=) rs778176181
NM_000334.4(SCN4A):c.3402G>A (p.Leu1134=)
NM_000334.4(SCN4A):c.3442-12C>G rs538428104
NM_000334.4(SCN4A):c.3442-12C>T rs538428104
NM_000334.4(SCN4A):c.3442-17G>C
NM_000334.4(SCN4A):c.3510C>T (p.Phe1170=)
NM_000334.4(SCN4A):c.3546T>C (p.Phe1182=)
NM_000334.4(SCN4A):c.3549C>T (p.Ala1183=)
NM_000334.4(SCN4A):c.3591G>A (p.Arg1197=)
NM_000334.4(SCN4A):c.3603C>T (p.Ser1201=)
NM_000334.4(SCN4A):c.3609C>T (p.Val1203=)
NM_000334.4(SCN4A):c.3630G>A (p.Glu1210=)
NM_000334.4(SCN4A):c.3687C>T (p.Asn1229=)
NM_000334.4(SCN4A):c.3720+19C>T
NM_000334.4(SCN4A):c.3747C>T (p.Ile1249=)
NM_000334.4(SCN4A):c.3774+11G>A
NM_000334.4(SCN4A):c.3774+12T>G
NM_000334.4(SCN4A):c.3774+14G>A
NM_000334.4(SCN4A):c.3774+19G>A
NM_000334.4(SCN4A):c.3774+19G>C
NM_000334.4(SCN4A):c.3775-13G>A rs1423251716
NM_000334.4(SCN4A):c.3775-15C>A
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=) rs574892874
NM_000334.4(SCN4A):c.3795C>T (p.Tyr1265=)
NM_000334.4(SCN4A):c.3816C>T (p.Tyr1272=)
NM_000334.4(SCN4A):c.3831C>A (p.Ile1277=)
NM_000334.4(SCN4A):c.3831C>T (p.Ile1277=)
NM_000334.4(SCN4A):c.3870C>T (p.Phe1290=)
NM_000334.4(SCN4A):c.3888C>T (p.Asp1296=)
NM_000334.4(SCN4A):c.3897C>T (p.Asn1299=)
NM_000334.4(SCN4A):c.3912+20C>T
NM_000334.4(SCN4A):c.3913-14C>A
NM_000334.4(SCN4A):c.3913-8C>T
NM_000334.4(SCN4A):c.392+17G>A
NM_000334.4(SCN4A):c.393-6C>A rs373185863
NM_000334.4(SCN4A):c.393-6C>T
NM_000334.4(SCN4A):c.3930C>T (p.Ile1310=)
NM_000334.4(SCN4A):c.39C>A (p.Gly13=) rs367551440
NM_000334.4(SCN4A):c.39C>T (p.Gly13=) rs367551440
NM_000334.4(SCN4A):c.4017+13G>C
NM_000334.4(SCN4A):c.4017+20C>T rs537558051
NM_000334.4(SCN4A):c.4018-16C>G
NM_000334.4(SCN4A):c.4018-4G>T
NM_000334.4(SCN4A):c.4032C>A (p.Gly1344=) rs1908598072
NM_000334.4(SCN4A):c.4038G>C (p.Val1346=)
NM_000334.4(SCN4A):c.4056G>A (p.Lys1352=)
NM_000334.4(SCN4A):c.4089C>T (p.Ile1363=)
NM_000334.4(SCN4A):c.4092C>T (p.Cys1364=)
NM_000334.4(SCN4A):c.4125_4126inv (p.Asn1376Asp)
NM_000334.4(SCN4A):c.4128C>T (p.Asn1376=)
NM_000334.4(SCN4A):c.4149C>T (p.Asp1383=)
NM_000334.4(SCN4A):c.4167C>T (p.Asn1389=) rs1908591302
NM_000334.4(SCN4A):c.4194G>A (p.Gly1398=)
NM_000334.4(SCN4A):c.4215C>A (p.Leu1405=)
NM_000334.4(SCN4A):c.4278G>A (p.Leu1426=)
NM_000334.4(SCN4A):c.4278G>T (p.Leu1426=) rs1427540247
NM_000334.4(SCN4A):c.4288+14G>C
NM_000334.4(SCN4A):c.4288+16T>C
NM_000334.4(SCN4A):c.4288+7G>A rs773803283
NM_000334.4(SCN4A):c.4288+8G>A
NM_000334.4(SCN4A):c.4289-7C>G
NM_000334.4(SCN4A):c.4296C>T (p.Ala1432=) rs1189085197
NM_000334.4(SCN4A):c.4335G>A (p.Thr1445=)
NM_000334.4(SCN4A):c.4341C>T (p.Phe1447=) rs1908552142
NM_000334.4(SCN4A):c.4356G>A (p.Leu1452=) rs754606856
NM_000334.4(SCN4A):c.435C>T (p.Cys145=)
NM_000334.4(SCN4A):c.4362G>A (p.Arg1454=) rs371698958
NM_000334.4(SCN4A):c.4371T>C (p.Arg1457=) rs2144774823
NM_000334.4(SCN4A):c.4383G>A (p.Leu1461=)
NM_000334.4(SCN4A):c.4389C>A (p.Arg1463=) rs763124097
NM_000334.4(SCN4A):c.4395C>T (p.Ala1465=) rs2144774757
NM_000334.4(SCN4A):c.4401C>T (p.Gly1467=)
NM_000334.4(SCN4A):c.4434G>C (p.Ser1478=) rs753725579
NM_000334.4(SCN4A):c.4458C>T (p.Gly1486=)
NM_000334.4(SCN4A):c.4464C>T (p.Leu1488=) rs377064207
NM_000334.4(SCN4A):c.4488C>T (p.Tyr1496=)
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu) rs543502873
NM_000334.4(SCN4A):c.4518C>T (p.Tyr1506=)
NM_000334.4(SCN4A):c.4524G>A (p.Lys1508=)
NM_000334.4(SCN4A):c.4563C>G (p.Thr1521=)
NM_000334.4(SCN4A):c.456C>T (p.Asp152=)
NM_000334.4(SCN4A):c.4585C>T (p.Leu1529=)
NM_000334.4(SCN4A):c.4605G>A (p.Ser1535=) rs182438287
NM_000334.4(SCN4A):c.4605G>C (p.Ser1535=) rs182438287
NM_000334.4(SCN4A):c.4653A>T (p.Pro1551=)
NM_000334.4(SCN4A):c.4692C>T (p.Val1564=)
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser) rs773541890
NM_000334.4(SCN4A):c.4713C>G (p.Pro1571=)
NM_000334.4(SCN4A):c.4716C>T (p.Ser1572=) rs903281617
NM_000334.4(SCN4A):c.4719C>A (p.Ile1573=) rs562551941
NM_000334.4(SCN4A):c.4743T>C (p.Tyr1581=)
NM_000334.4(SCN4A):c.4815A>T (p.Thr1605=)
NM_000334.4(SCN4A):c.482+10C>T rs1597987667
NM_000334.4(SCN4A):c.483-16G>A rs1597987551
NM_000334.4(SCN4A):c.483-4C>G rs200062384
NM_000334.4(SCN4A):c.483-5C>T rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.4833C>G (p.Pro1611=)
NM_000334.4(SCN4A):c.4836T>A (p.Leu1612=) rs1393932690
NM_000334.4(SCN4A):c.4893C>T (p.Ala1631=)
NM_000334.4(SCN4A):c.4938C>G (p.Thr1646=)
NM_000334.4(SCN4A):c.498G>A (p.Gly166=) rs2144813932
NM_000334.4(SCN4A):c.5061C>T (p.Val1687=) rs1598404879
NM_000334.4(SCN4A):c.5124C>T (p.Ala1708=) rs1555600600
NM_000334.4(SCN4A):c.5130C>T (p.Pro1710=)
NM_000334.4(SCN4A):c.5142C>T (p.Ser1714=) rs2144773471
NM_000334.4(SCN4A):c.5160C>T (p.Thr1720=)
NM_000334.4(SCN4A):c.5169G>A (p.Lys1723=) rs1477243382
NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)
NM_000334.4(SCN4A):c.5178C>T (p.His1726=)
NM_000334.4(SCN4A):c.5208G>A (p.Arg1736=)
NM_000334.4(SCN4A):c.5214C>T (p.Tyr1738=) rs760885982
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=) rs373804267
NM_000334.4(SCN4A):c.5220G>A (p.Arg1740=) rs767847345
NM_000334.4(SCN4A):c.5229A>G (p.Leu1743=) rs1908508905
NM_000334.4(SCN4A):c.522C>T (p.Ile174=)
NM_000334.4(SCN4A):c.5286G>C (p.Gly1762=) rs1249593659
NM_000334.4(SCN4A):c.5286G>T (p.Gly1762=)
NM_000334.4(SCN4A):c.5298T>C (p.Pro1766=)
NM_000334.4(SCN4A):c.529C>T (p.Leu177=)
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys) rs78592515
NM_000334.4(SCN4A):c.5316T>C (p.Leu1772=) rs1908503239
NM_000334.4(SCN4A):c.5319C>T (p.Ala1773=) rs746696835
NM_000334.4(SCN4A):c.5340T>C (p.Tyr1780=) rs1038392410
NM_000334.4(SCN4A):c.5361C>T (p.Ser1787=)
NM_000334.4(SCN4A):c.5403C>A (p.Ala1801=)
NM_000334.4(SCN4A):c.5409C>T (p.Pro1803=)
NM_000334.4(SCN4A):c.5442C>T (p.Asp1814=) rs2144772830
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=) rs754357879
NM_000334.4(SCN4A):c.5478T>A (p.Thr1826=) rs2227906
NM_000334.4(SCN4A):c.600C>A (p.Val200=)
NM_000334.4(SCN4A):c.611+12C>T
NM_000334.4(SCN4A):c.611+15C>T
NM_000334.4(SCN4A):c.611+16_611+24del
NM_000334.4(SCN4A):c.612-11C>T
NM_000334.4(SCN4A):c.612-15C>A
NM_000334.4(SCN4A):c.612-18C>G
NM_000334.4(SCN4A):c.612-18C>T
NM_000334.4(SCN4A):c.612-19C>G rs550132900
NM_000334.4(SCN4A):c.612-20C>T
NM_000334.4(SCN4A):c.612-5C>A rs1289035327
NM_000334.4(SCN4A):c.612-8C>T rs1909599791
NM_000334.4(SCN4A):c.612-9C>G
NM_000334.4(SCN4A):c.633C>T (p.Asp211=)
NM_000334.4(SCN4A):c.652C>T (p.Leu218=)
NM_000334.4(SCN4A):c.678C>T (p.Ala226=)
NM_000334.4(SCN4A):c.703+8G>A
NM_000334.4(SCN4A):c.704-12C>G
NM_000334.4(SCN4A):c.704-6G>C rs368225907
NM_000334.4(SCN4A):c.704-7C>T
NM_000334.4(SCN4A):c.706C>T (p.Leu236=) rs1253475807
NM_000334.4(SCN4A):c.714G>A (p.Thr238=)
NM_000334.4(SCN4A):c.717C>T (p.Ile239=) rs568242866
NM_000334.4(SCN4A):c.723G>A (p.Gly241=)
NM_000334.4(SCN4A):c.73C>T (p.Leu25=) rs1597988304
NM_000334.4(SCN4A):c.753G>A (p.Ser251=)
NM_000334.4(SCN4A):c.768C>G (p.Leu256=) rs1597985505
NM_000334.4(SCN4A):c.789C>T (p.Val263=)
NM_000334.4(SCN4A):c.792T>C (p.Phe264=)
NM_000334.4(SCN4A):c.795G>A (p.Ala265=)
NM_000334.4(SCN4A):c.834G>A (p.Gln278=)
NM_000334.4(SCN4A):c.840T>C (p.Cys280=) rs1555604611
NM_000334.4(SCN4A):c.87A>G (p.Glu29=) rs2143027796
NM_000334.4(SCN4A):c.888C>T (p.Ser296=)
NM_000334.4(SCN4A):c.915A>T (p.Thr305=)
NM_000334.4(SCN4A):c.975C>T (p.Asn325=)

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