ClinVar Miner

List of variants in gene GH-LCR, 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: 100
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954 0.00347
NM_000334.4(SCN4A):c.3774+7C>T rs199659791 0.00149
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=) rs368024629 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.3173G>A (p.Arg1058Gln) rs760649578 0.00021
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=) rs372002602 0.00019
NM_000334.4(SCN4A):c.3318+20C>G rs368263593 0.00017
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00016
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe) rs762311521 0.00013
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met) rs200481981 0.00011
NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile) rs368984178 0.00010
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=) rs776552053 0.00009
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=) rs375349902 0.00009
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=) rs540328974 0.00009
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=) rs760183656 0.00008
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=) rs186181122 0.00008
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro) rs753182664 0.00007
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926 0.00006
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His) rs368186423 0.00006
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys) rs1045422843 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg) rs778802285 0.00006
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=) rs773864470 0.00005
NM_000334.4(SCN4A):c.2376+10G>A rs1194053149 0.00004
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=) rs201346556 0.00004
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val) rs367610608 0.00004
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=) rs538968877 0.00004
NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser) rs957397485 0.00004
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr) rs1346442665 0.00003
NM_000334.4(SCN4A):c.3318+15G>A rs371928013 0.00003
NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His) rs924313348 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=) rs267604989 0.00003
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His) rs776355318 0.00003
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=) rs372442108 0.00003
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser) rs774821803 0.00003
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=) rs774089795 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val) rs748599327 0.00003
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His) rs556099012 0.00002
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser) rs899627353 0.00002
NM_000334.4(SCN4A):c.2650G>A (p.Glu884Lys) rs780708338 0.00002
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His) rs770588235 0.00002
NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp) rs772071113 0.00002
NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr) rs369886445 0.00002
NM_000334.4(SCN4A):c.2221C>T (p.Arg741Cys) rs1472308847 0.00001
NM_000334.4(SCN4A):c.2234A>G (p.His745Arg) rs762279435 0.00001
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207 0.00001
NM_000334.4(SCN4A):c.2731C>T (p.His911Tyr) rs752200039 0.00001
NM_000334.4(SCN4A):c.2853+7C>T rs760934874 0.00001
NM_000334.4(SCN4A):c.2854-19G>A rs1280578508 0.00001
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=) rs372555830 0.00001
NM_000334.4(SCN4A):c.2990-4T>A rs1346938988 0.00001
NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val) rs773489142 0.00001
NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn) rs780268341 0.00001
NM_000334.4(SCN4A):c.3720+7G>A rs553870552 0.00001
NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys) rs1398605254 0.00001
NM_000334.4(SCN4A):c.4080G>C (p.Met1360Ile) rs774789710 0.00001
NM_000334.4(SCN4A):c.4267G>A (p.Val1423Ile) rs943905262 0.00001
NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val) rs748620733 0.00001
NM_000334.4(SCN4A):c.4406G>A (p.Arg1469Gln) rs962610601 0.00001
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=) rs758113478 0.00001
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529 0.00001
NM_000334.4(SCN4A):c.4633A>G (p.Ile1545Val) rs527928131 0.00001
NM_000334.4(SCN4A):c.4814C>T (p.Thr1605Ile) rs1480989482 0.00001
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=) rs756370516 0.00001
NM_000334.4(SCN4A):c.4888G>A (p.Asp1630Asn) rs540950122 0.00001
NM_000334.4(SCN4A):c.5237C>T (p.Ser1746Phe) rs770063781 0.00001
NM_000334.4(SCN4A):c.5278G>A (p.Gly1760Ser) rs774530569 0.00001
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=) rs766569872 0.00001
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196 0.00001
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu) rs749251685 0.00001
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp) rs1300925199 0.00001
NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile) rs554836244 0.00001
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=) rs754110462
NM_000334.4(SCN4A):c.2479G>T (p.Gly827Trp) rs1028907866
NM_000334.4(SCN4A):c.2690T>C (p.Met897Thr) rs370879135
NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln) rs867372759
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=) rs530640921
NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys) rs1351279439
NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu) rs147610324
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=) rs574892874
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4065C>A (p.Phe1355Leu) rs578214396
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile) rs774789710
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) rs118047588
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val) rs770647690
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=) rs373804267
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys) rs758293600
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=) rs754357879
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577

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.