ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A

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ClinVar version:
Total variants: 380
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HGVS dbSNP
NM_000334.4(SCN4A):c.*1057C>T rs886053242
NM_000334.4(SCN4A):c.*1069G>A rs368616841
NM_000334.4(SCN4A):c.*1088A>G rs77725962
NM_000334.4(SCN4A):c.*1172G>A rs540304010
NM_000334.4(SCN4A):c.*1205C>G rs886053241
NM_000334.4(SCN4A):c.*1215G>A rs112758825
NM_000334.4(SCN4A):c.*122G>A rs2228997
NM_000334.4(SCN4A):c.*1253G>A rs886053240
NM_000334.4(SCN4A):c.*1271T>A rs2727277
NM_000334.4(SCN4A):c.*129G>T rs140026321
NM_000334.4(SCN4A):c.*1324T>C rs544883913
NM_000334.4(SCN4A):c.*1357A>G rs113012761
NM_000334.4(SCN4A):c.*1368G>C rs113385942
NM_000334.4(SCN4A):c.*1384_*1393ATATATGTGT[3] rs112489358
NM_000334.4(SCN4A):c.*1427T>C rs2727278
NM_000334.4(SCN4A):c.*1572T>G rs771871843
NM_000334.4(SCN4A):c.*1611A>G rs16947280
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581
NM_000334.4(SCN4A):c.*1679_*1680TG[7] rs66908473
NM_000334.4(SCN4A):c.*1737A>G rs16947276
NM_000334.4(SCN4A):c.*1828A>G rs79003915
NM_000334.4(SCN4A):c.*1875A>G rs886053239
NM_000334.4(SCN4A):c.*1887A>G rs749866237
NM_000334.4(SCN4A):c.*1890C>A rs886053238
NM_000334.4(SCN4A):c.*1916C>T rs139537251
NM_000334.4(SCN4A):c.*1989C>T rs77615646
NM_000334.4(SCN4A):c.*2072G>A rs192346663
NM_000334.4(SCN4A):c.*2150C>A rs182791237
NM_000334.4(SCN4A):c.*2169C>G rs191754378
NM_000334.4(SCN4A):c.*2211C>T rs886053237
NM_000334.4(SCN4A):c.*22A>G rs2228995
NM_000334.4(SCN4A):c.*304G>A rs545908155
NM_000334.4(SCN4A):c.*315C>T rs886053245
NM_000334.4(SCN4A):c.*332C>T rs77962116
NM_000334.4(SCN4A):c.*394A>C rs886053244
NM_000334.4(SCN4A):c.*563G>A rs2532112
NM_000334.4(SCN4A):c.*670T>G rs148552329
NM_000334.4(SCN4A):c.*710T>C rs2532111
NM_000334.4(SCN4A):c.*755G>A rs886053243
NM_000334.4(SCN4A):c.*86G>T rs566876110
NM_000334.4(SCN4A):c.*873G>C rs540759411
NM_000334.4(SCN4A):c.*981G>A rs144800677
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557
NM_000334.4(SCN4A):c.2054C>T (p.Thr685Met)
NM_000334.4(SCN4A):c.2055G>A (p.Thr685=) rs766227475
NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile) rs80338955
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe) rs80338955
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp) rs1327920743
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2096C>T (p.Ala699Val) rs1395381249
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=) rs776552053
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala) rs1567823095
NM_000334.4(SCN4A):c.2185T>C (p.Cys729Arg) rs200025736
NM_000334.4(SCN4A):c.2187C>T (p.Cys729=) rs749942058
NM_000334.4(SCN4A):c.2188G>A (p.Val730Met) rs113462659
NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser) rs199651516
NM_000334.4(SCN4A):c.2208C>T (p.Asp736=) rs751675273
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422
NM_000334.4(SCN4A):c.2223C>T (p.Arg741=) rs1041781133
NM_000334.4(SCN4A):c.2234A>G (p.His745Arg) rs762279435
NM_000334.4(SCN4A):c.2254C>T (p.Leu752Phe) rs1567823019
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284
NM_000334.4(SCN4A):c.2290G>A (p.Glu764Lys) rs1403270355
NM_000334.4(SCN4A):c.2292G>A (p.Glu764=) rs1555603112
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=) rs375349902
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2346C>A (p.Phe782Leu) rs745492332
NM_000334.4(SCN4A):c.2350A>G (p.Met784Val) rs1567822938
NM_000334.4(SCN4A):c.2362A>G (p.Ile788Val)
NM_000334.4(SCN4A):c.2375T>G (p.Val792Gly)
NM_000334.4(SCN4A):c.2377-17delC rs761358378
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2386C>T (p.Leu796=) rs750053946
NM_000334.4(SCN4A):c.2391C>G (p.Phe797Leu) rs1253601722
NM_000334.4(SCN4A):c.2411C>G (p.Ser804Cys) rs121908546
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr)
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=) rs540328974
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro)
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255
NM_000334.4(SCN4A):c.2479G>A (p.Gly827Arg)
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr) rs1346442665
NM_000334.4(SCN4A):c.2574C>T (p.Leu858=) rs184107335
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.2592C>T (p.Ala864=) rs200354336
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) rs886053247
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln) rs202155883
NM_000334.4(SCN4A):c.2675A>G (p.His892Arg)
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp)
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944
NM_000334.4(SCN4A):c.2711C>G (p.Pro904Arg)
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2721C>T (p.Leu907=) rs376432808
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.2729A>T (p.Asp910Val)
NM_000334.4(SCN4A):c.2747A>G (p.Asn916Ser) rs767053007
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.2773C>T (p.Pro925Ser) rs1567820767
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=)
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266
NM_000334.4(SCN4A):c.2795A>C (p.Asp932Ala)
NM_000334.4(SCN4A):c.2809A>C (p.Thr937Pro) rs752396330
NM_000334.4(SCN4A):c.2812G>A (p.Glu938Lys) rs374673348
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948
NM_000334.4(SCN4A):c.2846A>G (p.Asp949Gly) rs1555602253
NM_000334.4(SCN4A):c.2854-153A>G
NM_000334.4(SCN4A):c.2854-5C>T rs374039266
NM_000334.4(SCN4A):c.2861C>T (p.Pro954Leu) rs201367621
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=) rs375375167
NM_000334.4(SCN4A):c.2874T>A (p.Tyr958Ter) rs1567819954
NM_000334.4(SCN4A):c.2889C>A (p.Ser963=) rs757881584
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=) rs530640921
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419
NM_000334.4(SCN4A):c.2919del (p.Glu974fs)
NM_000334.4(SCN4A):c.2920G>A (p.Glu974Lys)
NM_000334.4(SCN4A):c.2955C>T (p.Pro985=) rs375621334
NM_000334.4(SCN4A):c.2956G>A (p.Glu986Lys) rs369128679
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.2992T>C (p.Cys998Arg) rs1555601897
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys) rs199713025
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His)
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg)
NM_000334.4(SCN4A):c.3027C>T (p.Ile1009=) rs750690287
NM_000334.4(SCN4A):c.3032A>G (p.Gln1011Arg) rs1555601881
NM_000334.4(SCN4A):c.3039T>C (p.Arg1013=) rs1319435457
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795
NM_000334.4(SCN4A):c.3062G>T (p.Arg1021Leu)
NM_000334.4(SCN4A):c.3065G>A (p.Arg1022Lys) rs1285110954
NM_000334.4(SCN4A):c.3099C>T (p.Phe1033=) rs753862870
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229
NM_000334.4(SCN4A):c.3145-164C>T
NM_000334.4(SCN4A):c.3176G>A (p.Arg1059Gln) rs749433088
NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val) rs773489142
NM_000334.4(SCN4A):c.3185G>C (p.Arg1062Pro) rs769704334
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395
NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=) rs749973882
NM_000334.4(SCN4A):c.3238A>G (p.Met1080Val)
NM_000334.4(SCN4A):c.3285C>T (p.Asn1095=)
NM_000334.4(SCN4A):c.3286G>C (p.Ala1096Pro)
NM_000334.4(SCN4A):c.3288C>T (p.Ala1096=)
NM_000334.4(SCN4A):c.3312C>T (p.Ile1104=) rs779189351
NM_000334.4(SCN4A):c.3318+12C>A rs13341114
NM_000334.4(SCN4A):c.3357C>T (p.Tyr1119=) rs903219930
NM_000334.4(SCN4A):c.3359C>T (p.Ser1120Leu) rs1314399622
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter) rs912001256
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln) rs780703403
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946
NM_000334.4(SCN4A):c.3430G>A (p.Glu1144Lys)
NM_000334.4(SCN4A):c.3441+164G>C
NM_000334.4(SCN4A):c.3441+4G>A rs765176007
NM_000334.4(SCN4A):c.3441+7G>A rs142270113
NM_000334.4(SCN4A):c.3442-130G>A
NM_000334.4(SCN4A):c.3442-18G>T rs377676692
NM_000334.4(SCN4A):c.3465C>T (p.Gly1155=) rs566581547
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser) rs80338958
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) rs121908549
NM_000334.4(SCN4A):c.3576C>T (p.Thr1192=)
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln) rs754401226
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577
NM_000334.4(SCN4A):c.3720+10A>G rs111679484
NM_000334.4(SCN4A):c.3720+9G>T rs9303466
NM_000334.4(SCN4A):c.3720G>A (p.Val1240=) rs1567818014
NM_000334.4(SCN4A):c.3749T>C (p.Met1250Thr)
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170
NM_000334.4(SCN4A):c.3772G>A (p.Glu1258Lys) rs886053246
NM_000334.4(SCN4A):c.3774+20A>G rs377552760
NM_000334.4(SCN4A):c.3774+7C>T rs199659791
NM_000334.4(SCN4A):c.3774+8G>A rs374806849
NM_000334.4(SCN4A):c.3774+9G>A
NM_000334.4(SCN4A):c.3781G>T (p.Glu1261Ter) rs752611838
NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys) rs1398605254
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val) rs367610608
NM_000334.4(SCN4A):c.3871A>G (p.Ile1291Val)
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551
NM_000334.4(SCN4A):c.3891C>A (p.Asn1297Lys) rs121908560
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000334.4(SCN4A):c.3898C>G (p.Gln1300Glu) rs1357732381
NM_000334.4(SCN4A):c.3898_3900CAG[1] (p.Gln1301del) rs752135284
NM_000334.4(SCN4A):c.3912+277G>A
NM_000334.4(SCN4A):c.3912+91G>A
NM_000334.4(SCN4A):c.3913-164G>A
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn) rs1567817380
NM_000334.4(SCN4A):c.3932T>G (p.Phe1311Cys) rs1555601196
NM_000334.4(SCN4A):c.3936G>C (p.Met1312Ile) rs1567817375
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.3939G>A (p.Thr1313=)
NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=) rs747602881
NM_000334.4(SCN4A):c.3965C>T (p.Ala1322Val) rs1567817350
NM_000334.4(SCN4A):c.3992C>T (p.Pro1331Leu) rs1567817335
NM_000334.4(SCN4A):c.4009C>T (p.Arg1337Trp) rs779717594
NM_000334.4(SCN4A):c.4010G>A (p.Arg1337Gln) rs779953580
NM_000334.4(SCN4A):c.4017+15G>T rs77844100
NM_000334.4(SCN4A):c.4017+240T>C
NM_000334.4(SCN4A):c.4017+268C>T
NM_000334.4(SCN4A):c.4018-222A>T
NM_000334.4(SCN4A):c.4018-246_4018-245insAGGGGGTCCCCGGGGAGG
NM_000334.4(SCN4A):c.4031G>C (p.Gly1344Ala)
NM_000334.4(SCN4A):c.4036G>A (p.Val1346Met) rs1555601054
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550
NM_000334.4(SCN4A):c.4065C>A (p.Phe1355Leu) rs578214396
NM_000334.4(SCN4A):c.4066G>A (p.Asp1356Asn)
NM_000334.4(SCN4A):c.4069A>C (p.Ile1357Leu) rs1555601045
NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val) rs80338959
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile)
NM_000334.4(SCN4A):c.4086_4087delinsAT (p.Ile1363Phe)
NM_000334.4(SCN4A):c.4088T>A (p.Ile1363Asn) rs1567817027
NM_000334.4(SCN4A):c.4106C>A (p.Thr1369Asn) rs748313755
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val) rs80338960
NM_000334.4(SCN4A):c.4116G>A (p.Val1372=)
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194
NM_000334.4(SCN4A):c.4179_4180insCC (p.Ile1394fs) rs1064794596
NM_000334.4(SCN4A):c.4201G>A (p.Val1401Met)
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4216G>A (p.Ala1406Thr) rs774364108
NM_000334.4(SCN4A):c.4218C>G (p.Ala1406=) rs770836153
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)
NM_000334.4(SCN4A):c.4240G>A (p.Val1414Ile)
NM_000334.4(SCN4A):c.4270G>A (p.Val1424Ile) rs375844960
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4288+6C>T rs148187651
NM_000334.4(SCN4A):c.4289-4G>A rs750364111
NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg) rs121908550
NM_000334.4(SCN4A):c.4300T>C (p.Ser1434Pro) rs1567816549
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro)
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu) rs121908553
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met)
NM_000334.4(SCN4A):c.4342C>A (p.Arg1448Ser) rs121908544
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro) rs121908545
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu)
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4359G>A (p.Ala1453=) rs757915411
NM_000334.4(SCN4A):c.4360C>A (p.Arg1454=) rs879253789
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789
NM_000334.4(SCN4A):c.4364T>G (p.Ile1455Ser) rs377176361
NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu) rs121908554
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His) rs863225046
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln) rs1210934866
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)
NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser)
NM_000334.4(SCN4A):c.4388G>A (p.Arg1463His)
NM_000334.4(SCN4A):c.4388G>T (p.Arg1463Leu)
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg) rs150423825
NM_000334.4(SCN4A):c.4410G>A (p.Thr1470=) rs534861830
NM_000334.4(SCN4A):c.4415T>C (p.Leu1472Pro) rs1057520169
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=) rs758113478
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr)
NM_000334.4(SCN4A):c.4426A>G (p.Met1476Val) rs1567816461
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr) rs1064795409
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile) rs121908559
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=) rs753725579
NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp)
NM_000334.4(SCN4A):c.4463T>C (p.Leu1488Pro) rs1057520846
NM_000334.4(SCN4A):c.4465C>T (p.Leu1489Phe) rs1555600762
NM_000334.4(SCN4A):c.4477A>G (p.Met1493Val)
NM_000334.4(SCN4A):c.4483A>T (p.Ile1495Phe) rs80338961
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)
NM_000334.4(SCN4A):c.4503G>A (p.Met1501Ile)
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe) rs762311521
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400
NM_000334.4(SCN4A):c.4557C>A (p.Phe1519Leu) rs931435454
NM_000334.4(SCN4A):c.4568G>A (p.Gly1523Asp) rs1285419994
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=) rs752523459
NM_000334.4(SCN4A):c.4601C>A (p.Thr1534Lys) rs939785324
NM_000334.4(SCN4A):c.4601C>T (p.Thr1534Met)
NM_000334.4(SCN4A):c.4605G>A (p.Ser1535=) rs182438287
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585
NM_000334.4(SCN4A):c.4639A>C (p.Asn1547His)
NM_000334.4(SCN4A):c.4642A>G (p.Ser1548Gly) rs1567816311
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852
NM_000334.4(SCN4A):c.4680G>A (p.Pro1560=) rs370207597
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser)
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) rs531658524
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529
NM_000334.4(SCN4A):c.4719C>T (p.Ile1573=) rs562551941
NM_000334.4(SCN4A):c.4759C>T (p.Leu1587Phe) rs1567816227
NM_000334.4(SCN4A):c.4764C>A (p.Ile1588=) rs768778696
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548
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.4776G>T (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr)
NM_000334.4(SCN4A):c.4783G>T (p.Ala1595Ser) rs761947899
NM_000334.4(SCN4A):c.4784C>T (p.Ala1595Val) rs1567816203
NM_000334.4(SCN4A):c.4804A>C (p.Asn1602His) rs1189124411
NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg) rs1555600678
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815
NM_000334.4(SCN4A):c.4890C>T (p.Asp1630=) rs781276397
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val)
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His)
NM_000334.4(SCN4A):c.4930G>A (p.Val1644Met) rs775486265
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu)
NM_000334.4(SCN4A):c.4950G>A (p.Pro1650=)
NM_000334.4(SCN4A):c.4955G>A (p.Arg1652Lys) rs1314887157
NM_000334.4(SCN4A):c.4993G>C (p.Asp1665His) rs1567816038
NM_000334.4(SCN4A):c.5020A>G (p.Ile1674Val)
NM_000334.4(SCN4A):c.5033A>G (p.Asp1678Gly) rs1245539617
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=) rs372002602
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5104_5106GAG[1] (p.Glu1703del) rs1464481652
NM_000334.4(SCN4A):c.5105A>G (p.Glu1702Gly) rs1555600604
NM_000334.4(SCN4A):c.5105A>T (p.Glu1702Val)
NM_000334.4(SCN4A):c.5110_5112del (p.Lys1704del)
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5124C>T (p.Ala1708=) rs1555600600
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys)
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333
NM_000334.4(SCN4A):c.5188T>C (p.Cys1730Arg) rs1567815888
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=) rs373804267
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys)
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988
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.5291A>G (p.Asp1764Gly) rs1567815771
NM_000334.4(SCN4A):c.5292C>T (p.Asp1764=) rs773576176
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454
NM_000334.4(SCN4A):c.5294C>G (p.Ala1765Gly) rs748434431
NM_000334.4(SCN4A):c.5310G>T (p.Gly1770=) rs1349039203
NM_000334.4(SCN4A):c.5343C>T (p.Gly1781=) rs745441690
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu)
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
NM_000334.4(SCN4A):c.5375C>T (p.Pro1792Leu)
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr)
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg)
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu)
NM_000334.4(SCN4A):c.5420_5425del (p.Leu1807_Met1808del) rs781515976
NM_000334.4(SCN4A):c.5424G>A (p.Met1808Ile) rs201375413
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866
NM_000334.4(SCN4A):c.5467C>A (p.Pro1823Thr)
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg) rs376833596
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys)
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710
NM_000334.4(SCN4A):c.[4468T>C;4479G>A]

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