ClinVar Miner

List of variants in gene SCN4A studied for congenital myopathy

Included ClinVar conditions (317):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_000334.4(SCN4A):c.864C>T (p.Asn288=) rs7218917 0.06188
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368 0.01791
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_000334.4(SCN4A):c.489C>G (p.Thr163=) rs146590697 0.00848
NM_000334.4(SCN4A):c.1606+20G>A rs73326363 0.00787
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln) rs111926172 0.00509
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu) rs112142736 0.00506
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704 0.00258
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_000334.4(SCN4A):c.1453-4A>G rs111818485 0.00209
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=) rs372791798 0.00112
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.999C>T (p.Asn333=) rs149726115 0.00056
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser) rs78592515 0.00054
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.951A>G (p.Ser317=) rs185246154 0.00044
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364 0.00042
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_000334.4(SCN4A):c.1607-17T>C rs202103551 0.00032
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000334.4(SCN4A):c.1845+7A>C rs141021600 0.00028
NM_000334.4(SCN4A):c.1926G>T (p.Trp642Cys) rs781412058 0.00028
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile) rs367988986 0.00027
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086 0.00026
NM_000334.4(SCN4A):c.845G>A (p.Arg282His) rs200615763 0.00025
NM_000334.4(SCN4A):c.1101-16C>T rs376459843 0.00024
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg) rs182691342 0.00021
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518 0.00019
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.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val) rs149907018 0.00011
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys) rs368011562 0.00011
NM_000334.4(SCN4A):c.-33C>T rs575313119 0.00010
NM_000334.4(SCN4A):c.1100+15G>A rs533321924 0.00010
NM_000334.4(SCN4A):c.1607-20T>C rs374159735 0.00010
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=) rs181494727 0.00009
NM_000334.4(SCN4A):c.841G>A (p.Val281Met) rs370289618 0.00009
NM_000334.4(SCN4A):c.1845+12del rs756462178 0.00008
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) rs374446143 0.00007
NM_000334.4(SCN4A):c.-4G>A rs565414568 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 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.45G>A (p.Glu15=) rs763166498 0.00006
NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe) rs368999500 0.00006
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) rs760067411 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.704-8G>A rs762393514 0.00005
NM_000334.4(SCN4A):c.-74G>A rs546675124 0.00004
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=) rs375655445 0.00004
NM_000334.4(SCN4A):c.113G>A (p.Arg38Gln) rs772546656 0.00004
NM_000334.4(SCN4A):c.121C>T (p.Arg41Trp) rs558855276 0.00004
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile) rs527384137 0.00004
NM_000334.4(SCN4A):c.1583G>T (p.Ser528Ile) rs906634749 0.00004
NM_000334.4(SCN4A):c.1606+3G>T rs377617612 0.00004
NM_000334.4(SCN4A):c.1808C>G (p.Thr603Arg) rs767603831 0.00004
NM_000334.4(SCN4A):c.1917G>T (p.Gln639His) rs375403086 0.00004
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) rs80266947 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 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.865G>A (p.Asp289Asn) rs376680315 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.1606G>A (p.Glu536Lys) rs746256985 0.00003
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=) rs189925781 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 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.64C>T (p.Arg22Trp) rs865873054 0.00003
NM_000334.4(SCN4A):c.-23G>T rs747406998 0.00002
NM_000334.4(SCN4A):c.1009G>C (p.Asp337His) rs776665275 0.00002
NM_000334.4(SCN4A):c.1064A>G (p.Asn355Ser) rs374835121 0.00002
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys) rs540596321 0.00002
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.1845+11G>T rs761523703 0.00002
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile) rs967530693 0.00002
NM_000334.4(SCN4A):c.483-7C>T rs780933125 0.00002
NM_000334.4(SCN4A):c.608T>A (p.Met203Lys) rs933258893 0.00002
NM_000334.4(SCN4A):c.739G>C (p.Val247Leu) rs755321637 0.00002
NM_000334.4(SCN4A):c.757G>A (p.Val253Met) rs772899378 0.00002
NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe) rs764694733 0.00002
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) rs886053250 0.00002
NM_000334.4(SCN4A):c.863A>G (p.Asn288Ser) rs771965654 0.00002
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn) rs766055241 0.00001
NM_000334.4(SCN4A):c.1192G>A (p.Ala398Thr) rs1174261819 0.00001
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys) rs1188070167 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.1559C>T (p.Pro520Leu) rs753391449 0.00001
NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln) rs1240011068 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.1594G>A (p.Asp532Asn) rs747479565 0.00001
NM_000334.4(SCN4A):c.1654G>A (p.Ala552Thr) rs552714913 0.00001
NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn) rs1415316385 0.00001
NM_000334.4(SCN4A):c.1753A>G (p.Thr585Ala) rs1289461335 0.00001
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=) rs1208231013 0.00001
NM_000334.4(SCN4A):c.1813C>T (p.His605Tyr) rs370438278 0.00001
NM_000334.4(SCN4A):c.1874T>C (p.Met625Thr) rs372436021 0.00001
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=) rs543151915 0.00001
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) rs80338784 0.00001
NM_000334.4(SCN4A):c.219G>A (p.Pro73=) rs779890709 0.00001
NM_000334.4(SCN4A):c.228C>T (p.Ile76=) rs1189122757 0.00001
NM_000334.4(SCN4A):c.273+7G>A rs369039376 0.00001
NM_000334.4(SCN4A):c.307T>G (p.Phe103Val) rs554349260 0.00001
NM_000334.4(SCN4A):c.393-1C>T rs1199378574 0.00001
NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu) rs781033413 0.00001
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln) rs777130479 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 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.858G>A (p.Pro286=) rs560230431 0.00001
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp) rs756059775 0.00001
NM_000334.4(SCN4A):c.-5C>T
NM_000334.4(SCN4A):c.-67G>A rs191783461
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.1123T>C (p.Cys375Arg)
NM_000334.4(SCN4A):c.1132A>G (p.Thr378Ala) rs2144807432
NM_000334.4(SCN4A):c.1138C>T (p.Arg380Trp)
NM_000334.4(SCN4A):c.1144C>A (p.Pro382Thr)
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.1282G>T (p.Val428Leu) rs532921435
NM_000334.4(SCN4A):c.1301G>C (p.Gly434Ala)
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.1339G>A (p.Ala447Thr)
NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp) rs749394640
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.1543G>A (p.Gly515Arg) rs1003243368
NM_000334.4(SCN4A):c.1553G>A (p.Gly518Glu) rs778649637
NM_000334.4(SCN4A):c.1559C>G (p.Pro520Arg) rs753391449
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=) rs373819078
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser) rs143457794
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.1711A>G (p.Ile571Val) rs1703227330
NM_000334.4(SCN4A):c.1758C>G (p.Ile586Met)
NM_000334.4(SCN4A):c.1823A>G (p.Asn608Ser)
NM_000334.4(SCN4A):c.1845+18A>T rs775429476
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.1999G>A (p.Val667Met) rs1487941051
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.215C>T (p.Pro72Leu) rs1303471186
NM_000334.4(SCN4A):c.274-20C>G
NM_000334.4(SCN4A):c.283G>A (p.Val95Ile)
NM_000334.4(SCN4A):c.32C>T (p.Pro11Leu)
NM_000334.4(SCN4A):c.343A>G (p.Ser115Gly)
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu) rs374529559
NM_000334.4(SCN4A):c.383T>A (p.Leu128His)
NM_000334.4(SCN4A):c.387C>G (p.Ile129Met) rs377620351
NM_000334.4(SCN4A):c.393-6C>A rs373185863
NM_000334.4(SCN4A):c.412A>G (p.Met138Val)
NM_000334.4(SCN4A):c.428C>A (p.Thr143Asn) rs1909633732
NM_000334.4(SCN4A):c.435C>A (p.Cys145Ter)
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu) rs543502873
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser) rs773541890
NM_000334.4(SCN4A):c.483-3C>G rs759754258
NM_000334.4(SCN4A):c.483-3dup rs753162147
NM_000334.4(SCN4A):c.483-4C>G rs200062384
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.506C>A (p.Thr169Asn)
NM_000334.4(SCN4A):c.51G>T (p.Leu17Phe)
NM_000334.4(SCN4A):c.527T>C (p.Ile176Thr) rs1909617747
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys) rs78592515
NM_000334.4(SCN4A):c.55C>G (p.Pro19Ala) rs772628295
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser) rs772628295
NM_000334.4(SCN4A):c.569G>A (p.Arg190Gln)
NM_000334.4(SCN4A):c.641A>G (p.Asn214Ser)
NM_000334.4(SCN4A):c.685del (p.Thr229fs) rs1909597270
NM_000334.4(SCN4A):c.721G>C (p.Gly241Arg)
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) rs80338951
NM_000334.4(SCN4A):c.788T>C (p.Val263Ala)
NM_000334.4(SCN4A):c.794C>T (p.Ala265Val)
NM_000334.4(SCN4A):c.870_878del (p.Asn291_Thr293del)
NM_000334.4(SCN4A):c.872A>G (p.Asn291Ser) rs781129876
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)
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226

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