ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as likely benign

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Gene type:
ClinVar version:
Total variants: 440
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
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.4018-222A>T rs12949493 0.02695
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
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.2020-252C>T rs77739011 0.01721
NM_000334.4(SCN4A):c.*1368G>C rs113385942 0.01686
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_000334.4(SCN4A):c.3912+91G>A rs115320521 0.01513
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.2376+321G>A rs111298169 0.00754
NC_000017.11:g.63938400G>A rs183187580 0.00744
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_000334.4(SCN4A):c.*1215G>A rs112758825 0.00696
NM_000334.4(SCN4A):c.4288+256C>T rs112472383 0.00682
NM_000334.4(SCN4A):c.4288+320T>C rs112527704 0.00674
NM_000334.4(SCN4A):c.2376+87A>G rs142948938 0.00607
NM_000334.4(SCN4A):c.2854-211C>T rs529705195 0.00589
NM_000334.4(SCN4A):c.3912+277G>A rs9892556 0.00569
NM_000334.4(SCN4A):c.3774+88C>T rs140987365 0.00459
NM_000334.4(SCN4A):c.4288+197A>C rs2058193 0.00459
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_000334.4(SCN4A):c.2020-207G>A rs544164156 0.00353
NM_000334.4(SCN4A):c.4289-70C>T rs148868349 0.00351
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.2748C>G (p.Asn916Lys) rs115379510 0.00253
NM_000334.4(SCN4A):c.*1828A>G rs79003915 0.00233
NM_000334.4(SCN4A):c.3319-177C>T rs72851171 0.00231
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.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_000334.4(SCN4A):c.2188G>A (p.Val730Met) rs113462659 0.00058
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988 0.00051
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys) rs199713025 0.00048
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000334.4(SCN4A):c.5424G>A (p.Met1808Ile) rs201375413 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.2200G>T (p.Ala734Ser) rs199651516 0.00030
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_000334.4(SCN4A):c.2955C>T (p.Pro985=) rs375621334 0.00026
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.2649C>T (p.Pro883=) rs368024629 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=) rs372002602 0.00019
NM_000334.4(SCN4A):c.3285C>T (p.Asn1095=) rs371401377 0.00018
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.5472G>A (p.Gly1824=) rs576801452 0.00015
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.3774+20A>G rs377552760 0.00011
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000334.4(SCN4A):c.4410G>A (p.Thr1470=) rs534861830 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.5468C>G (p.Pro1823Arg) rs376833596 0.00010
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.3084C>A (p.Val1028=) rs377273244 0.00008
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=) rs186181122 0.00008
NM_000334.4(SCN4A):c.2295C>A (p.Thr765=) rs370434474 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926 0.00006
NM_000334.4(SCN4A):c.2610G>A (p.Ala870=) rs375918619 0.00006
NM_000334.4(SCN4A):c.3018C>T (p.Tyr1006=) rs755880799 0.00006
NM_000334.4(SCN4A):c.3027C>T (p.Ile1009=) rs750690287 0.00006
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705 0.00006
NM_000334.4(SCN4A):c.4680G>A (p.Pro1560=) rs370207597 0.00006
NM_000334.4(SCN4A):c.4719C>T (p.Ile1573=) rs562551941 0.00006
NM_000334.4(SCN4A):c.5436C>A (p.Pro1812=) rs377620682 0.00006
NM_000334.4(SCN4A):c.2721C>T (p.Leu907=) rs376432808 0.00005
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=) rs773864470 0.00005
NM_000334.4(SCN4A):c.4881C>T (p.Phe1627=) rs771914246 0.00005
NM_000334.4(SCN4A):c.5085C>T (p.Asp1695=) rs755769915 0.00005
NM_000334.4(SCN4A):c.5343C>T (p.Gly1781=) rs745441690 0.00005
NM_000334.4(SCN4A):c.2112G>A (p.Thr704=) rs374119331 0.00004
NM_000334.4(SCN4A):c.2235T>C (p.His745=) rs777157991 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.2419G>A (p.Ala807Thr) rs770694096 0.00004
NM_000334.4(SCN4A):c.2853+8G>A rs377221069 0.00004
NM_000334.4(SCN4A):c.2886G>A (p.Ser962=) rs779571330 0.00004
NM_000334.4(SCN4A):c.3442-18G>T rs377676692 0.00004
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=) rs201346556 0.00004
NM_000334.4(SCN4A):c.3721-20C>T rs758053088 0.00004
NM_000334.4(SCN4A):c.3939G>A (p.Thr1313=) rs769542012 0.00004
NM_000334.4(SCN4A):c.4288+6C>T rs148187651 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.5145C>T (p.Tyr1715=) rs768902509 0.00004
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673 0.00004
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866 0.00004
NM_000334.4(SCN4A):c.*670T>G rs148552329 0.00003
NM_000334.4(SCN4A):c.2163G>A (p.Leu721=) rs371312493 0.00003
NM_000334.4(SCN4A):c.2574C>T (p.Leu858=) rs184107335 0.00003
NM_000334.4(SCN4A):c.3318+15G>A rs371928013 0.00003
NM_000334.4(SCN4A):c.4116G>A (p.Val1372=) rs755256694 0.00003
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=) rs267604989 0.00003
NM_000334.4(SCN4A):c.4288+7G>C rs773803283 0.00003
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=) rs372442108 0.00003
NM_000334.4(SCN4A):c.4545T>C (p.Asp1515=) rs924795809 0.00003
NM_000334.4(SCN4A):c.4704C>T (p.Cys1568=) rs548305586 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.2262C>T (p.Val754=) rs372634288 0.00002
NM_000334.4(SCN4A):c.2439G>A (p.Ser813=) rs137890985 0.00002
NM_000334.4(SCN4A):c.2469G>A (p.Gln823=) rs1020010363 0.00002
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser) rs899627353 0.00002
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.2784C>T (p.Ser928=) rs775693710 0.00002
NM_000334.4(SCN4A):c.2861C>T (p.Pro954Leu) rs201367621 0.00002
NM_000334.4(SCN4A):c.2989+7G>A rs558907834 0.00002
NM_000334.4(SCN4A):c.2990-8C>T rs369430465 0.00002
NM_000334.4(SCN4A):c.2994C>T (p.Cys998=) rs185803223 0.00002
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg) rs544082594 0.00002
NM_000334.4(SCN4A):c.3039T>C (p.Arg1013=) rs1319435457 0.00002
NM_000334.4(SCN4A):c.3318+17T>C rs766325793 0.00002
NM_000334.4(SCN4A):c.3402G>T (p.Leu1134=) rs769404443 0.00002
NM_000334.4(SCN4A):c.3442-15C>A rs763401184 0.00002
NM_000334.4(SCN4A):c.3525C>T (p.Ser1175=) rs750868036 0.00002
NM_000334.4(SCN4A):c.3681C>T (p.Tyr1227=) rs368851367 0.00002
NM_000334.4(SCN4A):c.3876C>T (p.Gly1292=) rs1461420199 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.4359G>A (p.Ala1453=) rs757915411 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.4419C>T (p.Phe1473=) rs374319193 0.00002
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=) rs753725579 0.00002
NM_000334.4(SCN4A):c.4878G>A (p.Lys1626=) rs374337084 0.00002
NM_000334.4(SCN4A):c.2055G>A (p.Thr685=) rs766227475 0.00001
NM_000334.4(SCN4A):c.2097G>A (p.Ala699=) rs765222494 0.00001
NM_000334.4(SCN4A):c.2145C>T (p.Ala715=) rs1909103840 0.00001
NM_000334.4(SCN4A):c.2208C>T (p.Asp736=) rs751675273 0.00001
NM_000334.4(SCN4A):c.2223C>T (p.Arg741=) rs1041781133 0.00001
NM_000334.4(SCN4A):c.2274G>C (p.Leu758=) rs368537002 0.00001
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207 0.00001
NM_000334.4(SCN4A):c.2364C>T (p.Ile788=) rs768158707 0.00001
NM_000334.4(SCN4A):c.2386C>T (p.Leu796=) rs750053946 0.00001
NM_000334.4(SCN4A):c.2586C>T (p.Asp862=) rs756161095 0.00001
NM_000334.4(SCN4A):c.2625C>T (p.Pro875=) rs533858326 0.00001
NM_000334.4(SCN4A):c.2628G>A (p.Glu876=) rs368479778 0.00001
NM_000334.4(SCN4A):c.2715C>T (p.Ser905=) rs1597973581 0.00001
NM_000334.4(SCN4A):c.2760G>A (p.Leu920=) rs762808534 0.00001
NM_000334.4(SCN4A):c.2797C>G (p.Leu933Val) rs757508857 0.00001
NM_000334.4(SCN4A):c.2826C>T (p.Asp942=) rs1183710096 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.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795 0.00001
NM_000334.4(SCN4A):c.3099C>T (p.Phe1033=) rs753862870 0.00001
NM_000334.4(SCN4A):c.3129C>T (p.Leu1043=) rs747471262 0.00001
NM_000334.4(SCN4A):c.3145-5C>A rs750109872 0.00001
NM_000334.4(SCN4A):c.3204C>T (p.Ala1068=) rs780229549 0.00001
NM_000334.4(SCN4A):c.3228C>T (p.Phe1076=) rs939978015 0.00001
NM_000334.4(SCN4A):c.3261C>T (p.Tyr1087=) rs534552884 0.00001
NM_000334.4(SCN4A):c.3318+14C>T rs199864927 0.00001
NM_000334.4(SCN4A):c.3390A>G (p.Thr1130=) rs774845449 0.00001
NM_000334.4(SCN4A):c.3441+4G>A rs765176007 0.00001
NM_000334.4(SCN4A):c.3453C>T (p.Asn1151=) rs768187283 0.00001
NM_000334.4(SCN4A):c.3465C>T (p.Gly1155=) rs566581547 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000334.4(SCN4A):c.3618G>A (p.Lys1206=) rs757658622 0.00001
NM_000334.4(SCN4A):c.3642C>T (p.His1214=) rs577108088 0.00001
NM_000334.4(SCN4A):c.3678C>T (p.Asn1226=) rs1218404418 0.00001
NM_000334.4(SCN4A):c.3720+20C>A rs1187897404 0.00001
NM_000334.4(SCN4A):c.3720+7G>A rs553870552 0.00001
NM_000334.4(SCN4A):c.3774+9G>A rs370756492 0.00001
NM_000334.4(SCN4A):c.3775-12T>C rs1191297022 0.00001
NM_000334.4(SCN4A):c.3775-5C>T rs777201502 0.00001
NM_000334.4(SCN4A):c.3858C>T (p.Thr1286=) rs538933926 0.00001
NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=) rs747602881 0.00001
NM_000334.4(SCN4A):c.4017+8C>T rs201269475 0.00001
NM_000334.4(SCN4A):c.4053G>A (p.Thr1351=) rs376395544 0.00001
NM_000334.4(SCN4A):c.4200C>T (p.Cys1400=) rs760454638 0.00001
NM_000334.4(SCN4A):c.4218C>G (p.Ala1406=) rs770836153 0.00001
NM_000334.4(SCN4A):c.4239C>T (p.Thr1413=) rs779956632 0.00001
NM_000334.4(SCN4A):c.4266G>A (p.Val1422=) rs1908587559 0.00001
NM_000334.4(SCN4A):c.4269C>T (p.Val1423=) rs757880810 0.00001
NM_000334.4(SCN4A):c.4288+15C>A rs1006841428 0.00001
NM_000334.4(SCN4A):c.4289-5C>T rs1396119458 0.00001
NM_000334.4(SCN4A):c.4338G>C (p.Leu1446=) rs577473932 0.00001
NM_000334.4(SCN4A):c.4389C>T (p.Arg1463=) rs763124097 0.00001
NM_000334.4(SCN4A):c.4398G>A (p.Lys1466=) rs1384075799 0.00001
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=) rs758113478 0.00001
NM_000334.4(SCN4A):c.4497C>T (p.Phe1499=) rs572237501 0.00001
NM_000334.4(SCN4A):c.4590C>T (p.Phe1530=) rs199824534 0.00001
NM_000334.4(SCN4A):c.4608C>T (p.Ala1536=) rs764476134 0.00001
NM_000334.4(SCN4A):c.4617C>T (p.Asp1539=) rs772431686 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.4782C>T (p.Ile1594=) rs190975011 0.00001
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr) rs761947899 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.4890C>T (p.Asp1630=) rs781276397 0.00001
NM_000334.4(SCN4A):c.4950G>A (p.Pro1650=) rs375995481 0.00001
NM_000334.4(SCN4A):c.4971C>T (p.Asn1657=) rs1307196671 0.00001
NM_000334.4(SCN4A):c.4983C>T (p.Leu1661=) rs1908520604 0.00001
NM_000334.4(SCN4A):c.4995C>T (p.Asp1665=) rs750776495 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.5283C>T (p.Ser1761=) rs766569872 0.00001
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454 0.00001
NM_000334.4(SCN4A):c.5346C>T (p.His1782=) rs1567815713 0.00001
NM_000334.4(SCN4A):c.5352T>C (p.Asn1784=) rs374079457 0.00001
NM_000334.4(SCN4A):c.5376G>A (p.Pro1792=) rs765644422 0.00001
NM_000334.4(SCN4A):c.5394A>G (p.Ala1798=) rs916993526 0.00001
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866 0.00001
NM_000334.4(SCN4A):c.2020-18G>A
NM_000334.4(SCN4A):c.2020-4G>T
NM_000334.4(SCN4A):c.2061C>T (p.Asn687=) rs1482355253
NM_000334.4(SCN4A):c.2067C>A (p.Leu689=)
NM_000334.4(SCN4A):c.2107C>T (p.Leu703=)
NM_000334.4(SCN4A):c.2112G>C (p.Thr704=)
NM_000334.4(SCN4A):c.2163G>C (p.Leu721=) rs371312493
NM_000334.4(SCN4A):c.2184G>A (p.Glu728=) rs779766143
NM_000334.4(SCN4A):c.2187C>T (p.Cys729=) rs749942058
NM_000334.4(SCN4A):c.2241C>T (p.Phe747=) rs1188601087
NM_000334.4(SCN4A):c.2259C>T (p.Ile753=)
NM_000334.4(SCN4A):c.2277C>T (p.Cys759=)
NM_000334.4(SCN4A):c.2292G>A (p.Glu764=) rs1555603112
NM_000334.4(SCN4A):c.2295C>T (p.Thr765=)
NM_000334.4(SCN4A):c.2376+14G>A
NM_000334.4(SCN4A):c.2377-17del rs761358378
NM_000334.4(SCN4A):c.2379C>T (p.Val793=)
NM_000334.4(SCN4A):c.2385C>T (p.Asn795=)
NM_000334.4(SCN4A):c.2401C>T (p.Leu801=)
NM_000334.4(SCN4A):c.2418C>T (p.Ser806=)
NM_000334.4(SCN4A):c.2436C>T (p.Ala812=)
NM_000334.4(SCN4A):c.2439G>C (p.Ser813=) rs137890985
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=) rs754110462
NM_000334.4(SCN4A):c.2460C>T (p.Asn820=)
NM_000334.4(SCN4A):c.2490G>A (p.Lys830=)
NM_000334.4(SCN4A):c.2523G>A (p.Leu841=)
NM_000334.4(SCN4A):c.2523G>C (p.Leu841=)
NM_000334.4(SCN4A):c.2568C>T (p.Leu856=)
NM_000334.4(SCN4A):c.2571C>T (p.Ser857=)
NM_000334.4(SCN4A):c.2580G>A (p.Glu860=)
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2667G>A (p.Lys889=)
NM_000334.4(SCN4A):c.2700T>C (p.Ala900=) rs1193886090
NM_000334.4(SCN4A):c.2718C>T (p.Ser906=)
NM_000334.4(SCN4A):c.2739C>T (p.Asn913=)
NM_000334.4(SCN4A):c.2811C>A (p.Thr937=) rs540811285
NM_000334.4(SCN4A):c.2814G>A (p.Glu938=)
NM_000334.4(SCN4A):c.2823C>T (p.Thr941=)
NM_000334.4(SCN4A):c.2829T>C (p.Thr943=) rs2144786514
NM_000334.4(SCN4A):c.2832C>T (p.Phe944=) rs2144786504
NM_000334.4(SCN4A):c.2835A>C (p.Ser945=) rs1597973422
NM_000334.4(SCN4A):c.2853+10G>A rs771981248
NM_000334.4(SCN4A):c.2853+18C>G
NM_000334.4(SCN4A):c.2854-4G>A
NM_000334.4(SCN4A):c.2854-6C>T rs1311365592
NM_000334.4(SCN4A):c.2859G>A (p.Pro953=)
NM_000334.4(SCN4A):c.2889C>A (p.Ser963=) rs757881584
NM_000334.4(SCN4A):c.2889C>T (p.Ser963=) rs757881584
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=) rs530640921
NM_000334.4(SCN4A):c.2916C>T (p.Pro972=)
NM_000334.4(SCN4A):c.2937G>A (p.Glu979=)
NM_000334.4(SCN4A):c.2952C>T (p.Asn984=)
NM_000334.4(SCN4A):c.2961G>A (p.Gly987=) rs1447182115
NM_000334.4(SCN4A):c.2973G>A (p.Glu991=)
NM_000334.4(SCN4A):c.2989+15C>T
NM_000334.4(SCN4A):c.2989+18C>G rs2144784248
NM_000334.4(SCN4A):c.2990-18C>T
NM_000334.4(SCN4A):c.2990-20G>T
NM_000334.4(SCN4A):c.2990-8C>G
NM_000334.4(SCN4A):c.2990-9C>A
NM_000334.4(SCN4A):c.3030C>T (p.Ser1010=)
NM_000334.4(SCN4A):c.3058C>T (p.Leu1020=)
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.3066G>A (p.Arg1022=)
NM_000334.4(SCN4A):c.3084C>T (p.Val1028=)
NM_000334.4(SCN4A):c.3123C>A (p.Ile1041=)
NM_000334.4(SCN4A):c.3144+11C>T
NM_000334.4(SCN4A):c.3145-7C>T
NM_000334.4(SCN4A):c.3147C>T (p.Ala1049=)
NM_000334.4(SCN4A):c.3150C>T (p.Phe1050=)
NM_000334.4(SCN4A):c.3288C>T (p.Ala1096=) rs1597971086
NM_000334.4(SCN4A):c.3300C>T (p.Leu1100=)
NM_000334.4(SCN4A):c.3309C>T (p.Leu1103=)
NM_000334.4(SCN4A):c.3312C>T (p.Ile1104=) rs779189351
NM_000334.4(SCN4A):c.3318+18G>A
NM_000334.4(SCN4A):c.3318+20C>T rs368263593
NM_000334.4(SCN4A):c.3318+7C>T
NM_000334.4(SCN4A):c.3318+9C>T
NM_000334.4(SCN4A):c.3319-12C>T rs766233648
NM_000334.4(SCN4A):c.3319-4G>A
NM_000334.4(SCN4A):c.3357C>T (p.Tyr1119=) rs903219930
NM_000334.4(SCN4A):c.3394C>A (p.Arg1132=) rs778176181
NM_000334.4(SCN4A):c.3402G>A (p.Leu1134=)
NM_000334.4(SCN4A):c.3442-12C>G rs538428104
NM_000334.4(SCN4A):c.3442-12C>T rs538428104
NM_000334.4(SCN4A):c.3442-17G>C
NM_000334.4(SCN4A):c.3510C>T (p.Phe1170=)
NM_000334.4(SCN4A):c.3546T>C (p.Phe1182=)
NM_000334.4(SCN4A):c.3549C>T (p.Ala1183=)
NM_000334.4(SCN4A):c.3576C>T (p.Thr1192=) rs1598406728
NM_000334.4(SCN4A):c.3591G>A (p.Arg1197=)
NM_000334.4(SCN4A):c.3603C>T (p.Ser1201=)
NM_000334.4(SCN4A):c.3609C>T (p.Val1203=)
NM_000334.4(SCN4A):c.3630G>A (p.Glu1210=)
NM_000334.4(SCN4A):c.3687C>T (p.Asn1229=)
NM_000334.4(SCN4A):c.3699C>G (p.Gly1233=)
NM_000334.4(SCN4A):c.3720+19C>T
NM_000334.4(SCN4A):c.3747C>T (p.Ile1249=)
NM_000334.4(SCN4A):c.3774+11G>A
NM_000334.4(SCN4A):c.3774+12T>G
NM_000334.4(SCN4A):c.3774+14G>A
NM_000334.4(SCN4A):c.3774+19G>A
NM_000334.4(SCN4A):c.3774+19G>C
NM_000334.4(SCN4A):c.3775-13G>A rs1423251716
NM_000334.4(SCN4A):c.3775-15C>A
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=) rs574892874
NM_000334.4(SCN4A):c.3795C>T (p.Tyr1265=)
NM_000334.4(SCN4A):c.3816C>T (p.Tyr1272=)
NM_000334.4(SCN4A):c.3831C>A (p.Ile1277=)
NM_000334.4(SCN4A):c.3831C>T (p.Ile1277=)
NM_000334.4(SCN4A):c.3870C>T (p.Phe1290=)
NM_000334.4(SCN4A):c.3888C>T (p.Asp1296=)
NM_000334.4(SCN4A):c.3897C>T (p.Asn1299=)
NM_000334.4(SCN4A):c.3912+20C>T
NM_000334.4(SCN4A):c.3912+32del rs145030641
NM_000334.4(SCN4A):c.3913-14C>A
NM_000334.4(SCN4A):c.3913-8C>T
NM_000334.4(SCN4A):c.3913T>C (p.Leu1305=)
NM_000334.4(SCN4A):c.3930C>T (p.Ile1310=)
NM_000334.4(SCN4A):c.4017+13G>C
NM_000334.4(SCN4A):c.4017+20C>T rs537558051
NM_000334.4(SCN4A):c.4018-16C>G
NM_000334.4(SCN4A):c.4018-4G>T
NM_000334.4(SCN4A):c.4032C>A (p.Gly1344=) rs1908598072
NM_000334.4(SCN4A):c.4038G>C (p.Val1346=)
NM_000334.4(SCN4A):c.4056G>A (p.Lys1352=)
NM_000334.4(SCN4A):c.4089C>T (p.Ile1363=)
NM_000334.4(SCN4A):c.4092C>T (p.Cys1364=)
NM_000334.4(SCN4A):c.4125_4126inv (p.Asn1376Asp)
NM_000334.4(SCN4A):c.4128C>T (p.Asn1376=)
NM_000334.4(SCN4A):c.4149C>T (p.Asp1383=)
NM_000334.4(SCN4A):c.4167C>T (p.Asn1389=) rs1908591302
NM_000334.4(SCN4A):c.4194G>A (p.Gly1398=)
NM_000334.4(SCN4A):c.4215C>A (p.Leu1405=)
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4260C>T (p.Asp1420=) rs1598405654
NM_000334.4(SCN4A):c.4278G>A (p.Leu1426=)
NM_000334.4(SCN4A):c.4278G>T (p.Leu1426=) rs1427540247
NM_000334.4(SCN4A):c.4288+14G>C
NM_000334.4(SCN4A):c.4288+16T>C
NM_000334.4(SCN4A):c.4288+7G>A rs773803283
NM_000334.4(SCN4A):c.4288+8G>A
NM_000334.4(SCN4A):c.4289-7C>G
NM_000334.4(SCN4A):c.4296C>T (p.Ala1432=) rs1189085197
NM_000334.4(SCN4A):c.4335G>A (p.Thr1445=)
NM_000334.4(SCN4A):c.4341C>T (p.Phe1447=) rs1908552142
NM_000334.4(SCN4A):c.4356G>A (p.Leu1452=) rs754606856
NM_000334.4(SCN4A):c.4360C>A (p.Arg1454=) rs879253789
NM_000334.4(SCN4A):c.4362G>A (p.Arg1454=) rs371698958
NM_000334.4(SCN4A):c.4371T>C (p.Arg1457=) rs2144774823
NM_000334.4(SCN4A):c.4383G>A (p.Leu1461=)
NM_000334.4(SCN4A):c.4389C>A (p.Arg1463=) rs763124097
NM_000334.4(SCN4A):c.4395C>T (p.Ala1465=) rs2144774757
NM_000334.4(SCN4A):c.4401C>T (p.Gly1467=)
NM_000334.4(SCN4A):c.4434G>C (p.Ser1478=) rs753725579
NM_000334.4(SCN4A):c.4458C>T (p.Gly1486=)
NM_000334.4(SCN4A):c.4464C>T (p.Leu1488=) rs377064207
NM_000334.4(SCN4A):c.4488C>T (p.Tyr1496=)
NM_000334.4(SCN4A):c.4518C>T (p.Tyr1506=)
NM_000334.4(SCN4A):c.4524G>A (p.Lys1508=)
NM_000334.4(SCN4A):c.4539C>T (p.Ile1513=) rs56342400
NM_000334.4(SCN4A):c.4563C>G (p.Thr1521=)
NM_000334.4(SCN4A):c.4585C>T (p.Leu1529=)
NM_000334.4(SCN4A):c.4605G>A (p.Ser1535=) rs182438287
NM_000334.4(SCN4A):c.4605G>C (p.Ser1535=) rs182438287
NM_000334.4(SCN4A):c.4653A>T (p.Pro1551=)
NM_000334.4(SCN4A):c.4692C>T (p.Val1564=)
NM_000334.4(SCN4A):c.4713C>G (p.Pro1571=)
NM_000334.4(SCN4A):c.4716C>T (p.Ser1572=) rs903281617
NM_000334.4(SCN4A):c.4719C>A (p.Ile1573=) rs562551941
NM_000334.4(SCN4A):c.4743T>C (p.Tyr1581=)
NM_000334.4(SCN4A):c.4815A>T (p.Thr1605=)
NM_000334.4(SCN4A):c.4833C>G (p.Pro1611=)
NM_000334.4(SCN4A):c.4836T>A (p.Leu1612=) rs1393932690
NM_000334.4(SCN4A):c.4893C>T (p.Ala1631=)
NM_000334.4(SCN4A):c.4938C>G (p.Thr1646=)
NM_000334.4(SCN4A):c.5061C>T (p.Val1687=) rs1598404879
NM_000334.4(SCN4A):c.5124C>T (p.Ala1708=) rs1555600600
NM_000334.4(SCN4A):c.5130C>T (p.Pro1710=)
NM_000334.4(SCN4A):c.5142C>T (p.Ser1714=) rs2144773471
NM_000334.4(SCN4A):c.5160C>T (p.Thr1720=)
NM_000334.4(SCN4A):c.5169G>A (p.Lys1723=) rs1477243382
NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)
NM_000334.4(SCN4A):c.5178C>T (p.His1726=)
NM_000334.4(SCN4A):c.5208G>A (p.Arg1736=)
NM_000334.4(SCN4A):c.5214C>T (p.Tyr1738=) rs760885982
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=) rs373804267
NM_000334.4(SCN4A):c.5220G>A (p.Arg1740=) rs767847345
NM_000334.4(SCN4A):c.5223C>T (p.His1741=) rs1598404776
NM_000334.4(SCN4A):c.5229A>G (p.Leu1743=) rs1908508905
NM_000334.4(SCN4A):c.5277C>T (p.Asp1759=) rs548333586
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5286G>C (p.Gly1762=) rs1249593659
NM_000334.4(SCN4A):c.5286G>T (p.Gly1762=)
NM_000334.4(SCN4A):c.5290G>A (p.Asp1764Asn) rs2144773136
NM_000334.4(SCN4A):c.5298T>C (p.Pro1766=)
NM_000334.4(SCN4A):c.5316T>C (p.Leu1772=) rs1908503239
NM_000334.4(SCN4A):c.5319C>T (p.Ala1773=) rs746696835
NM_000334.4(SCN4A):c.5340T>C (p.Tyr1780=) rs1038392410
NM_000334.4(SCN4A):c.5361C>T (p.Ser1787=)
NM_000334.4(SCN4A):c.5403C>A (p.Ala1801=)
NM_000334.4(SCN4A):c.5409C>T (p.Pro1803=)
NM_000334.4(SCN4A):c.5442C>T (p.Asp1814=) rs2144772830
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=) rs754357879
NM_000334.4(SCN4A):c.5478T>A (p.Thr1826=) rs2227906

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