List of variants in gene SCN4A reported as likely benign for muscular channelopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 264

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)	rs80338952	0.01562
NM_000334.4(SCN4A):c.1606+20G>A	rs73326363	0.00787
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.1453-4A>G	rs111818485	0.00209
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.1520A>G (p.Asn507Ser)	rs201793080	0.00053
NM_000334.4(SCN4A):c.951A>G (p.Ser317=)	rs185246154	0.00044
NM_000334.4(SCN4A):c.1607-17T>C	rs202103551	0.00032
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.1281C>T (p.Phe427=)	rs369445518	0.00019
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.1935C>T (p.Phe645=)	rs181494727	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.-4G>A	rs565414568	0.00006
NM_000334.4(SCN4A):c.1173C>T (p.Thr391=)	rs376062556	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.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.364C>T (p.Arg122Cys)	rs150158100	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.553G>A (p.Asp185Asn)	rs778661227	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.1594G>A (p.Asp532Asn)	rs747479565	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.1923T>C (p.Gly641=)	rs543151915	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.240G>A (p.Leu80=)	rs760094343	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.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.1137G>T (p.Gly379=)
NM_000334.4(SCN4A):c.1158C>T (p.Tyr386=)	rs745394242
NM_000334.4(SCN4A):c.1170C>T (p.Asp390=)
NM_000334.4(SCN4A):c.1200C>T (p.Phe400=)
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_1243-3del	rs771943636
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.1485G>A (p.Glu495=)
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.1606+7G>T
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.1722C>T (p.Ile574=)
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+11G>A
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.1845+7A>T
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.2019+8A>G	rs1597978601
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+17G>T
NM_000334.4(SCN4A):c.273+8C>A	rs1167045006
NM_000334.4(SCN4A):c.274-17C>T
NM_000334.4(SCN4A):c.392+10C>A
NM_000334.4(SCN4A):c.392+17G>A
NM_000334.4(SCN4A):c.393-20T>C
NM_000334.4(SCN4A):c.393-20T>G
NM_000334.4(SCN4A):c.393-6C>A	rs373185863
NM_000334.4(SCN4A):c.393-6C>T
NM_000334.4(SCN4A):c.396G>A (p.Leu132=)
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.447C>T (p.Thr149=)
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.483-18C>T
NM_000334.4(SCN4A):c.483-4C>G	rs200062384
NM_000334.4(SCN4A):c.483-4C>T
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.555C>T (p.Asp185=)
NM_000334.4(SCN4A):c.55C>G (p.Pro19Ala)	rs772628295
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>A
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.693G>A (p.Thr231=)
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.804A>G (p.Gly268=)
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.885C>T (p.Tyr295=)
NM_000334.4(SCN4A):c.888C>T (p.Ser296=)
NM_000334.4(SCN4A):c.915A>T (p.Thr305=)
NM_000334.4(SCN4A):c.948C>T (p.Asp316=)
NM_000334.4(SCN4A):c.975C>T (p.Asn325=)

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