ClinVar Miner

List of variants in gene SCN4A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 231
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.483-25T>C rs9892013 0.98729
NM_000334.4(SCN4A):c.703+55T>C rs2302236 0.85739
NM_000334.4(SCN4A):c.1037-304T>C rs4968678 0.85402
NM_000334.4(SCN4A):c.1037-291A>G rs4968677 0.84861
NM_000334.4(SCN4A):c.1243-41A>G rs2877373 0.79619
NM_000334.4(SCN4A):c.1452+224T>C rs917558 0.78939
NM_000334.4(SCN4A):c.1452+270C>A rs917557 0.78264
NM_000334.4(SCN4A):c.1453-132C>A rs2331408 0.75697
NM_000334.4(SCN4A):c.-327A>G rs3760238 0.52810
NM_000334.4(SCN4A):c.-312G>A rs3760239 0.51479
NM_000334.4(SCN4A):c.1845+12C>G rs776175702 0.15279
NM_000334.4(SCN4A):c.1607-339A>G rs73326355 0.09674
NM_000334.4(SCN4A):c.1845+319G>C rs77136990 0.06811
NM_000334.4(SCN4A):c.1100+115T>G rs73326367 0.06208
NM_000334.4(SCN4A):c.1037-112G>A rs78364035 0.06105
NM_000334.4(SCN4A):c.1242+247T>C rs2008896 0.03756
NM_000334.4(SCN4A):c.1100+83C>G rs77563591 0.03746
NM_000334.4(SCN4A):c.1452+260C>T rs78305954 0.02742
NM_000334.4(SCN4A):c.612-119C>T rs78410751 0.02251
NM_000334.4(SCN4A):c.1453-23C>T rs75168694 0.02115
NM_000334.4(SCN4A):c.-240G>C rs77367618 0.01889
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368 0.01791
NM_000334.4(SCN4A):c.1845+57C>T rs60911788 0.01585
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_000334.4(SCN4A):c.1036+84_1036+85insG rs550986247 0.00842
NM_000334.4(SCN4A):c.1606+20G>A rs73326363 0.00787
NM_000334.4(SCN4A):c.1846-275C>T rs111909623 0.00762
NM_000334.4(SCN4A):c.1036+197C>T rs139534530 0.00594
NM_000334.4(SCN4A):c.1606+54C>G rs73326361 0.00544
NM_000334.4(SCN4A):c.483-21G>A rs9892202 0.00505
NM_000334.4(SCN4A):c.404T>C (p.Met135Thr) rs115304957 0.00467
NM_000334.4(SCN4A):c.2019+188C>T rs146505658 0.00403
NM_000334.4(SCN4A):c.1845+3A>G rs1326121968 0.00350
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.248T>C (p.Leu83Pro) rs147352060 0.00141
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=) rs372791798 0.00112
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) rs138670794 0.00089
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.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.403A>C (p.Met135Leu) rs148028364 0.00042
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.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.1430A>G (p.Lys477Arg) rs182691342 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.963C>T (p.Asn321=) rs748863960 0.00016
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys) rs368011562 0.00011
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.841G>A (p.Val281Met) rs370289618 0.00009
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.1902C>T (p.Pro634=) rs368811155 0.00006
NM_000334.4(SCN4A):c.365G>A (p.Arg122His) rs374529559 0.00006
NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe) rs368999500 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.1984G>A (p.Val662Ile) rs766975288 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.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.1917G>T (p.Gln639His) rs375403086 0.00004
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) rs80266947 0.00004
NM_000334.4(SCN4A):c.274-30C>G rs371946667 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.1947C>T (p.Ile649=) rs564134251 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.1064A>G (p.Asn355Ser) rs374835121 0.00002
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys) rs540596321 0.00002
NM_000334.4(SCN4A):c.229G>A (p.Gly77Ser) rs369547459 0.00002
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile) rs967530693 0.00002
NM_000334.4(SCN4A):c.53G>A (p.Arg18His) rs557359808 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.969G>A (p.Thr323=) rs1429424012 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.1333G>C (p.Val445Leu) rs121908552 0.00001
NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln) rs1240011068 0.00001
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=) rs376538198 0.00001
NM_000334.4(SCN4A):c.1597G>A (p.Ala533Thr) rs776005101 0.00001
NM_000334.4(SCN4A):c.172T>C (p.Leu58=) rs566620453 0.00001
NM_000334.4(SCN4A):c.1753A>G (p.Thr585Ala) rs1289461335 0.00001
NM_000334.4(SCN4A):c.1773C>A (p.Asn591Lys) rs768087254 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.282C>T (p.Ile94=) rs563602704 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.665G>A (p.Arg222Gln) rs865887222 0.00001
NM_000334.4(SCN4A):c.706C>G (p.Leu236Val) rs1253475807 0.00001
NM_000334.4(SCN4A):c.718G>A (p.Val240Met) rs746216167 0.00001
NM_000334.4(SCN4A):c.752C>T (p.Ser251Leu) rs751884584 0.00001
NM_000334.4(SCN4A):c.786C>T (p.Ser262=) rs746749167 0.00001
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp) rs756059775 0.00001
NM_000334.4(SCN4A):c.-2G>T
NM_000334.4(SCN4A):c.1036+75dup rs11418006
NM_000334.4(SCN4A):c.1036+89del rs11418006
NM_000334.4(SCN4A):c.1037-156G>A rs74380139
NM_000334.4(SCN4A):c.1037-1G>A
NM_000334.4(SCN4A):c.1038G>A (p.Gly346=)
NM_000334.4(SCN4A):c.1068T>C (p.Asp356=) rs778654878
NM_000334.4(SCN4A):c.112C>T (p.Arg38Trp)
NM_000334.4(SCN4A):c.1133C>T (p.Thr378Ile) rs1555604367
NM_000334.4(SCN4A):c.1163G>C (p.Ser388Thr)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1242+105G>C rs2009051
NM_000334.4(SCN4A):c.1242+9del rs1555604336
NM_000334.4(SCN4A):c.1282G>A (p.Val428Met) rs532921435
NM_000334.4(SCN4A):c.1298T>C (p.Leu433Pro)
NM_000334.4(SCN4A):c.1326C>A (p.Ile442=)
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.1336G>T (p.Val446Leu)
NM_000334.4(SCN4A):c.1339G>T (p.Ala447Ser)
NM_000334.4(SCN4A):c.1343T>A (p.Met448Lys) rs768617159
NM_000334.4(SCN4A):c.1426A>G (p.Lys476Glu)
NM_000334.4(SCN4A):c.1441_1442delinsTT (p.Glu481Leu) rs1555604122
NM_000334.4(SCN4A):c.1473G>A (p.Leu491=)
NM_000334.4(SCN4A):c.1499C>A (p.Pro500Gln)
NM_000334.4(SCN4A):c.1532_1539delinsCTGAAGTT (p.Asp511_Ser513delinsAlaGluVal)
NM_000334.4(SCN4A):c.1543G>A (p.Gly515Arg) rs1003243368
NM_000334.4(SCN4A):c.1543G>T (p.Gly515Trp)
NM_000334.4(SCN4A):c.1559C>A (p.Pro520Gln) rs753391449
NM_000334.4(SCN4A):c.1569C>T (p.Ser523=) rs752731993
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.1606+236A>G rs9904789
NM_000334.4(SCN4A):c.1606+254C>G rs146000148
NM_000334.4(SCN4A):c.1642T>C (p.Trp548Arg) rs1001051115
NM_000334.4(SCN4A):c.1657C>G (p.His553Asp)
NM_000334.4(SCN4A):c.1659C>G (p.His553Gln)
NM_000334.4(SCN4A):c.1688C>A (p.Pro563Gln)
NM_000334.4(SCN4A):c.1688C>T (p.Pro563Leu)
NM_000334.4(SCN4A):c.1696A>C (p.Lys566Gln)
NM_000334.4(SCN4A):c.1727T>C (p.Met576Thr)
NM_000334.4(SCN4A):c.1733C>T (p.Pro578Leu) rs1370498653
NM_000334.4(SCN4A):c.1791G>A (p.Met597Ile) rs1909243373
NM_000334.4(SCN4A):c.1825G>T (p.Val609Leu)
NM_000334.4(SCN4A):c.1835T>A (p.Val612Glu) rs926617193
NM_000334.4(SCN4A):c.1845+166del rs58426251
NM_000334.4(SCN4A):c.1845+18A>G rs775429476
NM_000334.4(SCN4A):c.1845+7A>G rs141021600
NM_000334.4(SCN4A):c.1846-6C>A rs190853310
NM_000334.4(SCN4A):c.188A>G (p.Asn63Ser)
NM_000334.4(SCN4A):c.1906G>A (p.Glu636Lys)
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val) rs1480788895
NM_000334.4(SCN4A):c.1921G>A (p.Gly641Ser)
NM_000334.4(SCN4A):c.1922G>A (p.Gly641Asp) rs778197344
NM_000334.4(SCN4A):c.1946T>C (p.Ile649Thr) rs1191281164
NM_000334.4(SCN4A):c.1988A>G (p.Gln663Arg) rs2144795520
NM_000334.4(SCN4A):c.1996_2001dup (p.Ser666_Val667dup) rs1555603364
NM_000334.4(SCN4A):c.2011T>C (p.Phe671Leu) rs1057524290
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly) rs80338785
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys) rs80338785
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.235C>A (p.Pro79Thr) rs376505442
NM_000334.4(SCN4A):c.266A>G (p.Asn89Ser)
NM_000334.4(SCN4A):c.268_269del (p.Lys90fs) rs1567829776
NM_000334.4(SCN4A):c.279C>G (p.Phe93Leu) rs374574341
NM_000334.4(SCN4A):c.296G>T (p.Gly99Val) rs2143026945
NM_000334.4(SCN4A):c.301G>A (p.Ala101Thr)
NM_000334.4(SCN4A):c.304A>G (p.Ile102Val)
NM_000334.4(SCN4A):c.314T>C (p.Phe105Ser) rs1347004471
NM_000334.4(SCN4A):c.325C>T (p.Pro109Ser)
NM_000334.4(SCN4A):c.343A>G (p.Ser115Gly)
NM_000334.4(SCN4A):c.349T>C (p.Phe117Leu) rs1567829697
NM_000334.4(SCN4A):c.377A>G (p.Lys126Arg) rs1909639891
NM_000334.4(SCN4A):c.38G>A (p.Gly13Asp)
NM_000334.4(SCN4A):c.393-6C>A rs373185863
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-5C>G rs191547933
NM_000334.4(SCN4A):c.483-5C>T rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.503A>T (p.Tyr168Phe)
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser) rs772628295
NM_000334.4(SCN4A):c.569G>A (p.Arg190Gln)
NM_000334.4(SCN4A):c.592T>C (p.Phe198Leu) rs1438145853
NM_000334.4(SCN4A):c.607A>G (p.Met203Val)
NM_000334.4(SCN4A):c.612-7T>C rs1279854411
NM_000334.4(SCN4A):c.612-94G>A rs2302237
NM_000334.4(SCN4A):c.619A>G (p.Thr207Ala) rs1567829142
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr) rs1555604867
NM_000334.4(SCN4A):c.671T>A (p.Leu224Gln)
NM_000334.4(SCN4A):c.704-6G>A
NM_000334.4(SCN4A):c.704-6G>C rs368225907
NM_000334.4(SCN4A):c.713C>A (p.Thr238Lys) rs201661188
NM_000334.4(SCN4A):c.724G>T (p.Ala242Ser)
NM_000334.4(SCN4A):c.724_725delinsAA (p.Ala242Asn)
NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro) rs1057521065
NM_000334.4(SCN4A):c.781C>A (p.Leu261Met) rs1597985492
NM_000334.4(SCN4A):c.794C>A (p.Ala265Glu) rs749502925
NM_000334.4(SCN4A):c.806T>C (p.Leu269Pro) rs2144810150
NM_000334.4(SCN4A):c.844C>T (p.Arg282Cys)
NM_000334.4(SCN4A):c.86A>G (p.Glu29Gly)
NM_000334.4(SCN4A):c.888C>T (p.Ser296=)
NM_000334.4(SCN4A):c.896C>T (p.Thr299Met)
NM_000334.4(SCN4A):c.913_948dup (p.Asp316_Ser317insThrTrpTyrGlyAsnGluMetTrpTyrGlyAsnAsp)
NM_000334.4(SCN4A):c.916T>G (p.Trp306Gly)
NM_000334.4(SCN4A):c.923G>A (p.Gly308Asp)
NM_000334.4(SCN4A):c.92G>A (p.Arg31Gln)
NM_000334.4(SCN4A):c.954G>T (p.Trp318Cys) rs779130822
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226
NM_000334.4(SCN4A):c.968C>G (p.Thr323Arg)
NM_000334.4(SCN4A):c.977G>T (p.Ser326Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.