ClinVar Miner

List of variants in gene SCN4A reported as likely benign by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 229
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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.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.951A>G (p.Ser317=) rs185246154 0.00044
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.1242+15A>C rs750532418 0.00026
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086 0.00026
NM_000334.4(SCN4A):c.1101-16C>T rs376459843 0.00024
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.1607-20T>C rs374159735 0.00010
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.1845+12del rs756462178 0.00008
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.45G>A (p.Glu15=) rs763166498 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.459G>A (p.Pro153=) rs201227173 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.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.237C>T (p.Pro79=) rs374261960 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 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.483-7C>T rs780933125 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.172T>C (p.Leu58=) rs566620453 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.216G>A (p.Pro72=) rs768591136 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+19T>G rs756421900 0.00001
NM_000334.4(SCN4A):c.273+7G>A rs369039376 0.00001
NM_000334.4(SCN4A):c.282C>T (p.Ile94=) rs563602704 0.00001
NM_000334.4(SCN4A):c.291C>T (p.Asn97=) rs770919076 0.00001
NM_000334.4(SCN4A):c.337C>T (p.Leu113=) rs553234696 0.00001
NM_000334.4(SCN4A):c.345C>T (p.Ser115=) rs1909641231 0.00001
NM_000334.4(SCN4A):c.393-4C>A rs958817327 0.00001
NM_000334.4(SCN4A):c.483-20G>A rs771069029 0.00001
NM_000334.4(SCN4A):c.48C>T (p.Cys16=) rs765207978 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.1068T>C (p.Asp356=) rs778654878
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.1242+9del rs1555604336
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.213C>T (p.Pro71=) rs2143027400
NM_000334.4(SCN4A):c.225C>T (p.Val75=)
NM_000334.4(SCN4A):c.273+17G>A
NM_000334.4(SCN4A):c.273+8C>A rs1167045006
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.39C>A (p.Gly13=) rs367551440
NM_000334.4(SCN4A):c.39C>T (p.Gly13=) rs367551440
NM_000334.4(SCN4A):c.435C>T (p.Cys145=)
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu) rs543502873
NM_000334.4(SCN4A):c.456C>T (p.Asp152=)
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser) rs773541890
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.498G>A (p.Gly166=) rs2144813932
NM_000334.4(SCN4A):c.522C>T (p.Ile174=)
NM_000334.4(SCN4A):c.529C>T (p.Leu177=)
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys) rs78592515
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.612-7T>C rs1279854411
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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