ClinVar Miner

List of variants in gene GH-LCR, SCN4A studied for SCN4A-related myopathy, autosomal recessive

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 267
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.*710T>C rs2532111 0.67728
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_000334.4(SCN4A):c.*1427T>C rs2727278 0.18159
NM_000334.4(SCN4A):c.*1271T>A rs2727277 0.18122
NM_000334.4(SCN4A):c.*22A>G rs2228995 0.17899
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_000334.4(SCN4A):c.*563G>A rs2532112 0.08626
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_000334.4(SCN4A):c.*1737A>G rs16947276 0.06978
NM_000334.4(SCN4A):c.*1357A>G rs113012761 0.05971
NM_000334.4(SCN4A):c.*122G>A rs2228997 0.05774
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_000334.4(SCN4A):c.*1611A>G rs16947280 0.02126
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000334.4(SCN4A):c.4017+15G>T rs77844100 0.01755
NM_000334.4(SCN4A):c.*1368G>C rs113385942 0.01686
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_000334.4(SCN4A):c.*332C>T rs77962116 0.01507
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000334.4(SCN4A):c.*1989C>T rs77615646 0.00968
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.*1088A>G rs77725962 0.00759
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710 0.00716
NM_000334.4(SCN4A):c.*1215G>A rs112758825 0.00696
NM_000334.4(SCN4A):c.*129G>T rs140026321 0.00401
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954 0.00347
NM_000334.4(SCN4A):c.*1324T>C rs544883913 0.00256
NM_000334.4(SCN4A):c.*1828A>G rs79003915 0.00233
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_000334.4(SCN4A):c.3774+7C>T rs199659791 0.00149
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_000334.4(SCN4A):c.*552A>G rs533628539 0.00124
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_000334.4(SCN4A):c.*2170G>A rs569759069 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000334.4(SCN4A):c.*2150C>A rs182791237 0.00105
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_000334.4(SCN4A):c.*2072G>A rs192346663 0.00099
NM_000334.4(SCN4A):c.*64G>A rs753971558 0.00080
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988 0.00051
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000334.4(SCN4A):c.*2085C>G rs756262968 0.00042
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946 0.00038
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=) rs200354336 0.00036
NM_000334.4(SCN4A):c.*1069G>A rs368616841 0.00035
NM_000334.4(SCN4A):c.*780G>T rs562146322 0.00034
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110 0.00026
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000334.4(SCN4A):c.*755G>A rs886053243 0.00025
NM_000334.4(SCN4A):c.*873G>C rs540759411 0.00024
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu) rs201414160 0.00022
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.*304G>A rs545908155 0.00017
NM_000334.4(SCN4A):c.*86G>T rs566876110 0.00017
NM_000334.4(SCN4A):c.3318+20C>G rs368263593 0.00017
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913 0.00017
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00016
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe) rs762311521 0.00013
NM_000334.4(SCN4A):c.*1887A>G rs749866237 0.00012
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948 0.00012
NM_000334.4(SCN4A):c.*1108C>G rs773016576 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met) rs200481981 0.00011
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala) rs372635510 0.00011
NM_000334.4(SCN4A):c.*1253G>A rs886053240 0.00010
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile) rs368984178 0.00010
NM_000334.4(SCN4A):c.*1916C>T rs139537251 0.00009
NM_000334.4(SCN4A):c.*630T>C rs779847568 0.00009
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=) rs776552053 0.00009
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 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.2646G>A (p.Pro882=) rs538173069 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=) rs760183656 0.00008
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=) rs375375167 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=) rs186181122 0.00008
NM_000334.4(SCN4A):c.*1313G>A rs761821168 0.00007
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro) rs753182664 0.00007
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=) rs201036204 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000334.4(SCN4A):c.*1057C>T rs886053242 0.00006
NM_000334.4(SCN4A):c.*2211C>T rs886053237 0.00006
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926 0.00006
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705 0.00006
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585 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.*1572T>G rs771871843 0.00005
NM_000334.4(SCN4A):c.*754T>C rs574113483 0.00005
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln) rs202155883 0.00005
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=) rs773864470 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000334.4(SCN4A):c.*1172G>A rs540304010 0.00004
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512 0.00004
NM_000334.4(SCN4A):c.2376+10G>A rs1194053149 0.00004
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) rs886053247 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.4289-4G>A rs750364111 0.00004
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=) rs538968877 0.00004
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=) rs752523459 0.00004
NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser) rs957397485 0.00004
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683 0.00004
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673 0.00004
NM_000334.4(SCN4A):c.*394A>C rs886053244 0.00003
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.3386G>A (p.Arg1129Gln) rs527236149 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.5275G>A (p.Asp1759Asn) rs1015807829 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 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.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His) rs770588235 0.00002
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg) rs544082594 0.00002
NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp) rs772071113 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr) rs369886445 0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000334.4(SCN4A):c.*1218G>A rs908902727 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
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.2280G>T (p.Gly760=) rs753779301 0.00001
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207 0.00001
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp) rs760713282 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.2990C>T (p.Ala997Val) rs760962949 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795 0.00001
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr) rs772835617 0.00001
NM_000334.4(SCN4A):c.3145-5C>A rs750109872 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.3604G>A (p.Glu1202Lys) rs201916531 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.4324G>A (p.Val1442Met) rs774452124 0.00001
NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val) rs779470034 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His) rs863225046 0.00001
NM_000334.4(SCN4A):c.4393G>T (p.Ala1465Ser) rs770398125 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.4667A>G (p.Asn1556Ser) rs751454852 0.00001
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) rs531658524 0.00001
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr) rs761947899 0.00001
NM_000334.4(SCN4A):c.4814C>T (p.Thr1605Ile) rs1480989482 0.00001
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349 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.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430 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.5293G>A (p.Ala1765Thr) rs531694454 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.5457C>T (p.Pro1819=) rs761023866 0.00001
NM_000334.4(SCN4A):c.5465C>A (p.Pro1822His) rs773666497 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.*1345A>G rs1908450197
NM_000334.4(SCN4A):c.*1497C>T rs1908443762
NM_000334.4(SCN4A):c.*1505G>T rs1908443410
NM_000334.4(SCN4A):c.*1599A>G rs1908440330
NM_000334.4(SCN4A):c.*1875A>G rs886053239
NM_000334.4(SCN4A):c.*1890C>A rs886053238
NM_000334.4(SCN4A):c.*203T>G rs1908484940
NM_000334.4(SCN4A):c.*2169C>G rs191754378
NM_000334.4(SCN4A):c.*315C>T rs886053245
NM_000334.4(SCN4A):c.*981G>A rs144800677
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.2576G>A (p.Gly859Glu) rs886053248
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2612G>A (p.Gly871Glu) rs1908916464
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del) rs760403755
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.2863C>A (p.Gln955Lys) rs1185395150
NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp) rs757322725
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.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=) rs749973882
NM_000334.4(SCN4A):c.3249A>G (p.Lys1083=) rs1597971116
NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu) rs147610324
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys) rs1181083611
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg) rs1598406692
NM_000334.4(SCN4A):c.3679T>C (p.Tyr1227His) rs1908682760
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
NM_000334.4(SCN4A):c.3772G>A (p.Glu1258Lys) rs886053246
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>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) rs118047588
NM_000334.4(SCN4A):c.4258G>A (p.Asp1420Asn) rs1908587972
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu) rs121908553
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4498G>A (p.Gly1500Ser)
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.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5294C>G (p.Ala1765Gly) rs748434431
NM_000334.4(SCN4A):c.5372G>T (p.Ser1791Ile) rs1908500124
NM_000334.4(SCN4A):c.5420_5425del (p.Leu1807_Met1808del) rs781515976
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=) rs754357879
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577

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