ClinVar Miner

List of variants in gene SCN4A studied for Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
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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.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000334.4(SCN4A):c.1453-4A>G rs111818485 0.00209
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser) rs78592515 0.00054
NM_000334.4(SCN4A):c.1607-17T>C rs202103551 0.00032
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile) rs367988986 0.00027
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.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.1607-20T>C rs374159735 0.00010
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.1139G>A (p.Arg380Gln) rs374446143 0.00007
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.704-8G>A rs762393514 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.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.204C>T (p.Tyr68=) rs80266947 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 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.64C>T (p.Arg22Trp) rs865873054 0.00003
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.1845+11G>T rs761523703 0.00002
NM_000334.4(SCN4A):c.483-7C>T rs780933125 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.1192G>A (p.Ala398Thr) rs1174261819 0.00001
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=) rs373819078 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.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.228C>T (p.Ile76=) rs1189122757 0.00001
NM_000334.4(SCN4A):c.273+7G>A rs369039376 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.91C>T (p.Arg31Trp) rs756059775 0.00001
NM_000334.4(SCN4A):c.1282G>T (p.Val428Leu) rs532921435
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
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.1585G>A (p.Gly529Ser) rs143457794
NM_000334.4(SCN4A):c.1711A>G (p.Ile571Val) rs1703227330
NM_000334.4(SCN4A):c.1845+18A>T rs775429476
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.393-6C>A rs373185863
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.483-4C>G rs200062384
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser) rs772628295
NM_000334.4(SCN4A):c.872A>G (p.Asn291Ser) rs781129876
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226

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