ClinVar Miner

List of variants reported as likely benign for benign familial infantile epilepsy

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 633
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00531
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279 0.00196
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796 0.00183
NM_001040142.1(SCN2A):c.*2490G>A rs189308010 0.00146
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_001040142.2(SCN2A):c.*2480A>G rs184839439 0.00123
NM_001040142.2(SCN2A):c.*874A>G rs572817494 0.00111
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515 0.00079
NM_001040142.2(SCN2A):c.*792A>G rs539290679 0.00074
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414 0.00050
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302 0.00043
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820 0.00040
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg) rs200926711 0.00039
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405 0.00027
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00027
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093 0.00025
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700 0.00024
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552 0.00023
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=) rs201685102 0.00019
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455 0.00017
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939 0.00015
NM_001040142.2(SCN2A):c.3954C>A (p.Ser1318=) rs139507841 0.00013
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308 0.00012
NM_001040142.2(SCN2A):c.2919+8G>A rs552318566 0.00012
NM_001040142.2(SCN2A):c.4823-15G>A rs375524288 0.00012
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=) rs377063535 0.00011
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498 0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277 0.00010
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441 0.00010
NM_001040142.2(SCN2A):c.5850C>T (p.Leu1950=) rs147055283 0.00010
NM_001040142.2(SCN2A):c.1306T>C (p.Leu436=) rs376323449 0.00009
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00009
NM_001040142.2(SCN2A):c.4110C>T (p.Thr1370=) rs148868382 0.00009
NM_001040142.2(SCN2A):c.4552-16A>T rs555368941 0.00009
NM_001040142.2(SCN2A):c.5541G>A (p.Val1847=) rs371704720 0.00009
NM_001040142.2(SCN2A):c.1384-10G>A rs752259362 0.00008
NM_001040142.2(SCN2A):c.1384-4C>G rs113191507 0.00008
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780 0.00008
NM_001040142.2(SCN2A):c.2292C>T (p.Ala764=) rs760963593 0.00008
NM_001040142.2(SCN2A):c.5568C>T (p.Asp1856=) rs144058186 0.00008
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553 0.00008
NM_001040142.2(SCN2A):c.3521-12C>T rs370419172 0.00007
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417 0.00006
NM_001040142.2(SCN2A):c.3015T>C (p.Ile1005=) rs758652224 0.00006
NM_001040142.2(SCN2A):c.3330A>C (p.Gly1110=) rs138143967 0.00006
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450 0.00006
NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val) rs201124054 0.00006
NM_001040142.2(SCN2A):c.4221C>T (p.Asn1407=) rs747792907 0.00006
NM_001040142.2(SCN2A):c.5817A>G (p.Glu1939=) rs780514937 0.00006
NM_001040142.2(SCN2A):c.1177-16C>G rs553983883 0.00005
NM_001040142.2(SCN2A):c.2661A>G (p.Val887=) rs749540280 0.00005
NM_001040142.2(SCN2A):c.5043T>C (p.Asn1681=) rs770118417 0.00005
NM_001040142.2(SCN2A):c.5217A>C (p.Gly1739=) rs2227899 0.00005
NM_001040142.2(SCN2A):c.789G>A (p.Ala263=) rs775625143 0.00005
NM_001040142.2(SCN2A):c.915T>A (p.Thr305=) rs1193774137 0.00005
NM_001040142.2(SCN2A):c.1386G>A (p.Ala462=) rs145912536 0.00004
NM_001040142.2(SCN2A):c.1527A>G (p.Lys509=) rs150087890 0.00004
NM_001040142.2(SCN2A):c.1536A>G (p.Glu512=) rs201680546 0.00004
NM_001040142.2(SCN2A):c.1571G>A (p.Arg524Gln) rs186154973 0.00004
NM_001040142.2(SCN2A):c.1605A>G (p.Lys535=) rs367647572 0.00004
NM_001040142.2(SCN2A):c.1621T>C (p.Leu541=) rs763631456 0.00004
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312 0.00004
NM_001040142.2(SCN2A):c.1953T>C (p.Asn651=) rs199722574 0.00004
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156 0.00004
NM_001040142.2(SCN2A):c.3348T>C (p.Asn1116=) rs781717883 0.00004
NM_001040142.2(SCN2A):c.3411A>G (p.Ala1137=) rs112270017 0.00004
NM_001040142.2(SCN2A):c.3676-20T>C rs1057522535 0.00004
NM_001040142.2(SCN2A):c.3753C>T (p.Tyr1251=) rs770116598 0.00004
NM_001040142.2(SCN2A):c.4551+10A>G rs767957352 0.00004
NM_001040142.2(SCN2A):c.4552-14A>G rs775130301 0.00004
NM_001040142.2(SCN2A):c.4842G>T (p.Leu1614=) rs148604854 0.00004
NM_001040142.2(SCN2A):c.5022C>T (p.Tyr1674=) rs186157680 0.00004
NM_001040142.2(SCN2A):c.5097C>G (p.Thr1699=) rs950010627 0.00004
NM_001040142.2(SCN2A):c.5367T>C (p.Pro1789=) rs761507234 0.00004
NM_001040142.2(SCN2A):c.605+19T>C rs373120658 0.00004
NM_001040142.2(SCN2A):c.840A>G (p.Gln280=) rs377200041 0.00004
NM_001040142.2(SCN2A):c.1095G>A (p.Thr365=) rs2227900 0.00003
NM_001040142.2(SCN2A):c.1200G>A (p.Thr400=) rs532681917 0.00003
NM_001040142.2(SCN2A):c.132G>A (p.Glu44=) rs781272663 0.00003
NM_001040142.2(SCN2A):c.1836C>T (p.Phe612=) rs747402663 0.00003
NM_001040142.2(SCN2A):c.1992A>G (p.Thr664=) rs368988956 0.00003
NM_001040142.2(SCN2A):c.2017-9T>C rs1451143110 0.00003
NM_001040142.2(SCN2A):c.2023A>G (p.Thr675Ala) rs371601218 0.00003
NM_001040142.2(SCN2A):c.2304C>T (p.Cys768=) rs764479273 0.00003
NM_001040142.2(SCN2A):c.2389-17C>T rs1461082035 0.00003
NM_001040142.2(SCN2A):c.2563-4C>A rs561375550 0.00003
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273 0.00003
NM_001040142.2(SCN2A):c.3258C>T (p.Val1086=) rs760647603 0.00003
NM_001040142.2(SCN2A):c.3399+14A>C rs376371059 0.00003
NM_001040142.2(SCN2A):c.3676-9G>T rs767017457 0.00003
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=) rs138241682 0.00003
NM_001040142.2(SCN2A):c.5127A>G (p.Gln1709=) rs938025387 0.00003
NM_001040142.2(SCN2A):c.5166T>C (p.Pro1722=) rs760587370 0.00003
NM_001040142.2(SCN2A):c.5760C>T (p.Leu1920=) rs1449263336 0.00003
NM_001040142.2(SCN2A):c.672A>T (p.Ala224=) rs2228986 0.00003
NM_001040142.2(SCN2A):c.1131A>G (p.Leu377=) rs928600496 0.00002
NM_001040142.2(SCN2A):c.1353A>G (p.Glu451=) rs559725593 0.00002
NM_001040142.2(SCN2A):c.1398C>T (p.Ala466=) rs373430899 0.00002
NM_001040142.2(SCN2A):c.1437G>C (p.Gly479=) rs940572077 0.00002
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His) rs150040573 0.00002
NM_001040142.2(SCN2A):c.2150-9T>C rs979249844 0.00002
NM_001040142.2(SCN2A):c.2386C>T (p.Leu796=) rs943031760 0.00002
NM_001040142.2(SCN2A):c.252C>T (p.Tyr84=) rs143065769 0.00002
NM_001040142.2(SCN2A):c.2631T>C (p.Ser877=) rs1292645984 0.00002
NM_001040142.2(SCN2A):c.270G>A (p.Thr90=) rs776081713 0.00002
NM_001040142.2(SCN2A):c.3195C>A (p.Leu1065=) rs150369313 0.00002
NM_001040142.2(SCN2A):c.3261G>T (p.Val1087=) rs932319701 0.00002
NM_001040142.2(SCN2A):c.3521-15T>C rs886055000 0.00002
NM_001040142.2(SCN2A):c.3521-9A>G rs748099173 0.00002
NM_001040142.2(SCN2A):c.3624T>C (p.Asn1208=) rs552725434 0.00002
NM_001040142.2(SCN2A):c.3675+9T>C rs372657571 0.00002
NM_001040142.2(SCN2A):c.387-6T>C rs1386314410 0.00002
NM_001040142.2(SCN2A):c.4094A>G (p.His1365Arg) rs762800170 0.00002
NM_001040142.2(SCN2A):c.414G>A (p.Thr138=) rs553026899 0.00002
NM_001040142.2(SCN2A):c.4552-9T>C rs760228082 0.00002
NM_001040142.2(SCN2A):c.4671A>G (p.Gln1557=) rs757986594 0.00002
NM_001040142.2(SCN2A):c.5119C>T (p.Leu1707=) rs2227897 0.00002
NM_001040142.2(SCN2A):c.5709A>G (p.Lys1903=) rs780697553 0.00002
NM_001040142.2(SCN2A):c.5994A>G (p.Lys1998=) rs745810335 0.00002
NM_001040142.2(SCN2A):c.698-20C>T rs748075978 0.00002
NM_001040142.2(SCN2A):c.9G>A (p.Gln3=) rs1435672829 0.00002
NM_001040142.2(SCN2A):c.1032A>G (p.Ala344=) rs778228350 0.00001
NM_001040142.2(SCN2A):c.1034+10G>A rs749778303 0.00001
NM_001040142.2(SCN2A):c.1035-15C>G rs761906987 0.00001
NM_001040142.2(SCN2A):c.1038G>A (p.Gln346=) rs1057522529 0.00001
NM_001040142.2(SCN2A):c.1137T>C (p.Arg379=) rs587781154 0.00001
NM_001040142.2(SCN2A):c.1177-8T>C rs1060504831 0.00001
NM_001040142.2(SCN2A):c.1194G>A (p.Gly398=) rs1436893477 0.00001
NM_001040142.2(SCN2A):c.122G>A (p.Arg41His) rs754993031 0.00001
NM_001040142.2(SCN2A):c.1246C>T (p.Leu416=) rs902180317 0.00001
NM_001040142.2(SCN2A):c.1383+17T>C rs1226775368 0.00001
NM_001040142.2(SCN2A):c.1383+19C>T rs199744298 0.00001
NM_001040142.2(SCN2A):c.1383+20G>A rs567354567 0.00001
NM_001040142.2(SCN2A):c.1384-8C>T rs755754936 0.00001
NM_001040142.2(SCN2A):c.1473T>G (p.Ser491=) rs1427996432 0.00001
NM_001040142.2(SCN2A):c.1542T>C (p.Ser514=) rs780072216 0.00001
NM_001040142.2(SCN2A):c.1578G>A (p.Ser526=) rs141269163 0.00001
NM_001040142.2(SCN2A):c.1613G>A (p.Arg538His) rs761203730 0.00001
NM_001040142.2(SCN2A):c.1623G>A (p.Leu541=) rs753341735 0.00001
NM_001040142.2(SCN2A):c.1846A>G (p.Arg616Gly) rs772896106 0.00001
NM_001040142.2(SCN2A):c.1866C>T (p.His622=) rs377388875 0.00001
NM_001040142.2(SCN2A):c.1904T>C (p.Leu635Pro) rs558887330 0.00001
NM_001040142.2(SCN2A):c.1923T>C (p.Asn641=) rs780183614 0.00001
NM_001040142.2(SCN2A):c.1938C>T (p.Ser646=) rs528391611 0.00001
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=) rs149230197 0.00001
NM_001040142.2(SCN2A):c.1986C>T (p.Thr662=) rs530608927 0.00001
NM_001040142.2(SCN2A):c.2001G>C (p.Gly667=) rs1323805020 0.00001
NM_001040142.2(SCN2A):c.2016+10A>G rs886042771 0.00001
NM_001040142.2(SCN2A):c.2043A>G (p.Arg681=) rs1384019842 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln) rs146949852 0.00001
NM_001040142.2(SCN2A):c.2074A>G (p.Met692Val) rs771488290 0.00001
NM_001040142.2(SCN2A):c.2149+16T>C rs767512295 0.00001
NM_001040142.2(SCN2A):c.2149+18C>T rs770481092 0.00001
NM_001040142.2(SCN2A):c.2367T>C (p.Ser789=) rs1181917414 0.00001
NM_001040142.2(SCN2A):c.2389-6A>G rs1370290520 0.00001
NM_001040142.2(SCN2A):c.240T>C (p.Asp80=) rs1327484226 0.00001
NM_001040142.2(SCN2A):c.2499T>C (p.Leu833=) rs1699364670 0.00001
NM_001040142.2(SCN2A):c.2518T>C (p.Leu840=) rs768817318 0.00001
NM_001040142.2(SCN2A):c.2541A>T (p.Ser847=) rs776618474 0.00001
NM_001040142.2(SCN2A):c.255T>C (p.Tyr85=) rs199657941 0.00001
NM_001040142.2(SCN2A):c.2598T>G (p.Thr866=) rs1306050789 0.00001
NM_001040142.2(SCN2A):c.2643A>G (p.Leu881=) rs777805952 0.00001
NM_001040142.2(SCN2A):c.2766C>T (p.Arg922=) rs202006528 0.00001
NM_001040142.2(SCN2A):c.2799G>A (p.Leu933=) rs759837838 0.00001
NM_001040142.2(SCN2A):c.27A>T (p.Pro9=) rs1191664110 0.00001
NM_001040142.2(SCN2A):c.2802C>T (p.Ile934=) rs758408742 0.00001
NM_001040142.2(SCN2A):c.2811C>T (p.Arg937=) rs779791354 0.00001
NM_001040142.2(SCN2A):c.2859C>T (p.Val953=) rs139967593 0.00001
NM_001040142.2(SCN2A):c.2919+16A>G rs1343240110 0.00001
NM_001040142.2(SCN2A):c.3048T>C (p.Phe1016=) rs1231094286 0.00001
NM_001040142.2(SCN2A):c.3084C>T (p.Ala1028=) rs1700076171 0.00001
NM_001040142.2(SCN2A):c.3133C>T (p.Leu1045=) rs369128399 0.00001
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029 0.00001
NM_001040142.2(SCN2A):c.3306T>G (p.Thr1102=) rs1246050360 0.00001
NM_001040142.2(SCN2A):c.3318A>G (p.Pro1106=) rs751746800 0.00001
NM_001040142.2(SCN2A):c.3400-7T>C rs1469952990 0.00001
NM_001040142.2(SCN2A):c.3435G>A (p.Thr1145=) rs1345931602 0.00001
NM_001040142.2(SCN2A):c.3454G>A (p.Ala1152Thr) rs766523968 0.00001
NM_001040142.2(SCN2A):c.3530G>A (p.Arg1177Gln) rs773202451 0.00001
NM_001040142.2(SCN2A):c.3549G>A (p.Gln1183=) rs1402203523 0.00001
NM_001040142.2(SCN2A):c.3556A>G (p.Ile1186Val) rs1433862850 0.00001
NM_001040142.2(SCN2A):c.3561A>G (p.Glu1187=) rs1388551340 0.00001
NM_001040142.2(SCN2A):c.3570A>G (p.Lys1190=) rs765597357 0.00001
NM_001040142.2(SCN2A):c.3630C>T (p.Phe1210=) rs371422797 0.00001
NM_001040142.2(SCN2A):c.3675+7G>T rs369008860 0.00001
NM_001040142.2(SCN2A):c.3693C>T (p.Tyr1231=) rs1559395351 0.00001
NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=) rs527970192 0.00001
NM_001040142.2(SCN2A):c.3789A>G (p.Ala1263=) rs771357111 0.00001
NM_001040142.2(SCN2A):c.3850-9T>C rs1273545144 0.00001
NM_001040142.2(SCN2A):c.3855A>C (p.Ser1285=) rs746426337 0.00001
NM_001040142.2(SCN2A):c.3870T>A (p.Thr1290=) rs1225687118 0.00001
NM_001040142.2(SCN2A):c.4056T>C (p.Ser1352=) rs764921287 0.00001
NM_001040142.2(SCN2A):c.4121T>A (p.Met1374Lys) rs555250264 0.00001
NM_001040142.2(SCN2A):c.4129G>T (p.Val1377Leu) rs1407740477 0.00001
NM_001040142.2(SCN2A):c.4134C>T (p.Ser1378=) rs145465905 0.00001
NM_001040142.2(SCN2A):c.4551+11C>T rs1292269804 0.00001
NM_001040142.2(SCN2A):c.4566A>C (p.Gly1522=) rs1309014295 0.00001
NM_001040142.2(SCN2A):c.4656C>T (p.Thr1552=) rs765041838 0.00001
NM_001040142.2(SCN2A):c.477-13T>C rs973711914 0.00001
NM_001040142.2(SCN2A):c.4818T>C (p.Ile1606=) rs771160474 0.00001
NM_001040142.2(SCN2A):c.4836T>G (p.Ala1612=) rs144133411 0.00001
NM_001040142.2(SCN2A):c.4977G>A (p.Ala1659=) rs1250394077 0.00001
NM_001040142.2(SCN2A):c.5175T>C (p.Asn1725=) rs1428775007 0.00001
NM_001040142.2(SCN2A):c.5289C>T (p.Ser1763=) rs1381791914 0.00001
NM_001040142.2(SCN2A):c.5316C>T (p.Ile1772=) rs946785343 0.00001
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233 0.00001
NM_001040142.2(SCN2A):c.5421C>G (p.Pro1807=) rs1457454456 0.00001
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324 0.00001
NM_001040142.2(SCN2A):c.5487T>C (p.Leu1829=) rs1188907234 0.00001
NM_001040142.2(SCN2A):c.5520T>A (p.Ile1840=) rs1279372118 0.00001
NM_001040142.2(SCN2A):c.5544T>C (p.Ser1848=) rs761713186 0.00001
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=) rs752845880 0.00001
NM_001040142.2(SCN2A):c.5625T>G (p.Leu1875=) rs374716270 0.00001
NM_001040142.2(SCN2A):c.5658A>C (p.Ser1886=) rs902710874 0.00001
NM_001040142.2(SCN2A):c.5691G>A (p.Thr1897=) rs780700291 0.00001
NM_001040142.2(SCN2A):c.5697G>A (p.Thr1899=) rs746574956 0.00001
NM_001040142.2(SCN2A):c.5733T>C (p.Ile1911=) rs376740497 0.00001
NM_001040142.2(SCN2A):c.5736C>T (p.Ile1912=) rs1324754723 0.00001
NM_001040142.2(SCN2A):c.5761T>C (p.Leu1921=) rs776934629 0.00001
NM_001040142.2(SCN2A):c.5889C>T (p.Thr1963=) rs776509462 0.00001
NM_001040142.2(SCN2A):c.5922G>A (p.Ser1974=) rs1260616318 0.00001
NM_001040142.2(SCN2A):c.783G>C (p.Val261=) rs1250340830 0.00001
NM_001040142.2(SCN2A):c.849A>G (p.Pro283=) rs1697368581 0.00001
NM_001040142.2(SCN2A):c.877A>G (p.Thr293Ala) rs1305687130 0.00001
NM_001040142.2(SCN2A):c.892A>G (p.Asn298Asp) rs754706708 0.00001
NM_001040142.2(SCN2A):c.971-10C>T rs1305298237 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001
NM_000702.4(ATP1A2):c.2284+44G>A rs1651914525
NM_000702.4(ATP1A2):c.2284+62T>A rs1651915554
NM_001040142.2(SCN2A):c.1034+15C>T
NM_001040142.2(SCN2A):c.1035-13A>G
NM_001040142.2(SCN2A):c.1050A>T (p.Gly350=) rs1284650444
NM_001040142.2(SCN2A):c.1053C>T (p.Tyr351=) rs1574566686
NM_001040142.2(SCN2A):c.1071T>G (p.Gly357=) rs779499394
NM_001040142.2(SCN2A):c.108A>G (p.Arg36=) rs2106149149
NM_001040142.2(SCN2A):c.1113T>C (p.Ser371=) rs1438036303
NM_001040142.2(SCN2A):c.1167T>C (p.Leu389=) rs1186490705
NM_001040142.2(SCN2A):c.1174C>T (p.Leu392=)
NM_001040142.2(SCN2A):c.1176+11A>T
NM_001040142.2(SCN2A):c.1176+12T>C
NM_001040142.2(SCN2A):c.1176+13A>T
NM_001040142.2(SCN2A):c.1177-16C>T
NM_001040142.2(SCN2A):c.1180C>T (p.Leu394=)
NM_001040142.2(SCN2A):c.1200G>T (p.Thr400=) rs532681917
NM_001040142.2(SCN2A):c.1218G>A (p.Val406=)
NM_001040142.2(SCN2A):c.1224C>A (p.Val408=)
NM_001040142.2(SCN2A):c.1224C>T (p.Val408=)
NM_001040142.2(SCN2A):c.1227T>C (p.Ile409=) rs1559355886
NM_001040142.2(SCN2A):c.1231T>C (p.Leu411=)
NM_001040142.2(SCN2A):c.1251A>C (p.Ile417=) rs1290406159
NM_001040142.2(SCN2A):c.1281C>T (p.Ala427=) rs2105255954
NM_001040142.2(SCN2A):c.12A>G (p.Ser4=)
NM_001040142.2(SCN2A):c.1302C>T (p.Ala434=) rs1488671443
NM_001040142.2(SCN2A):c.1305A>G (p.Thr435=) rs1574567854
NM_001040142.2(SCN2A):c.1326G>A (p.Lys442=)
NM_001040142.2(SCN2A):c.1350C>T (p.Leu450=) rs750850028
NM_001040142.2(SCN2A):c.1383+7T>C rs2105256264
NM_001040142.2(SCN2A):c.1384-11C>T rs780656967
NM_001040142.2(SCN2A):c.1384-12G>T
NM_001040142.2(SCN2A):c.1384-15T>C
NM_001040142.2(SCN2A):c.1384-19A>G
NM_001040142.2(SCN2A):c.1384-7C>T rs1283931859
NM_001040142.2(SCN2A):c.1428T>A (p.Gly476=)
NM_001040142.2(SCN2A):c.1437G>A (p.Gly479=) rs940572077
NM_001040142.2(SCN2A):c.1445T>G (p.Val482Gly)
NM_001040142.2(SCN2A):c.147C>T (p.Gly49=)
NM_001040142.2(SCN2A):c.1485C>T (p.Ser495=) rs756904745
NM_001040142.2(SCN2A):c.1524G>A (p.Lys508=) rs2105259852
NM_001040142.2(SCN2A):c.1533A>G (p.Lys511=) rs2105259899
NM_001040142.2(SCN2A):c.1561G>C (p.Asp521His) rs1574572514
NM_001040142.2(SCN2A):c.159C>T (p.Asn53=)
NM_001040142.2(SCN2A):c.1629A>G (p.Gly543=)
NM_001040142.2(SCN2A):c.1641A>G (p.Thr547=)
NM_001040142.2(SCN2A):c.1644T>C (p.Tyr548=)
NM_001040142.2(SCN2A):c.1668C>T (p.His556=) rs1574572897
NM_001040142.2(SCN2A):c.1671+14A>T
NM_001040142.2(SCN2A):c.1671+19A>G
NM_001040142.2(SCN2A):c.1672-13T>C
NM_001040142.2(SCN2A):c.1672-13T>G rs1168838956
NM_001040142.2(SCN2A):c.1672-4A>G
NM_001040142.2(SCN2A):c.1672-6T>A rs2105276596
NM_001040142.2(SCN2A):c.1672-7T>C rs1553571855
NM_001040142.2(SCN2A):c.1672-8A>T rs761226454
NM_001040142.2(SCN2A):c.1674C>T (p.Ser558=)
NM_001040142.2(SCN2A):c.1695C>A (p.Ser565=) rs267598960
NM_001040142.2(SCN2A):c.1725G>C (p.Ala575=) rs543538780
NM_001040142.2(SCN2A):c.1761T>C (p.Ile587=)
NM_001040142.2(SCN2A):c.1764C>T (p.Gly588=) rs2105276848
NM_001040142.2(SCN2A):c.1767T>C (p.Ser589=)
NM_001040142.2(SCN2A):c.177A>C (p.Gly59=) rs796053110
NM_001040142.2(SCN2A):c.1815C>T (p.Asp605=)
NM_001040142.2(SCN2A):c.1833G>A (p.Leu611=) rs1057522258
NM_001040142.2(SCN2A):c.1839G>A (p.Val613=)
NM_001040142.2(SCN2A):c.1842G>A (p.Pro614=) rs114315466
NM_001040142.2(SCN2A):c.1871A>G (p.Asn624Ser)
NM_001040142.2(SCN2A):c.1881G>A (p.Gln627=) rs1466478648
NM_001040142.2(SCN2A):c.1893C>T (p.Ala631=)
NM_001040142.2(SCN2A):c.189A>G (p.Pro63=) rs2106149322
NM_001040142.2(SCN2A):c.1941T>C (p.Ala647=)
NM_001040142.2(SCN2A):c.1956T>C (p.Gly652=)
NM_001040142.2(SCN2A):c.1956T>G (p.Gly652=)
NM_001040142.2(SCN2A):c.1965C>A (p.Ser655=) rs914170392
NM_001040142.2(SCN2A):c.1966C>T (p.Leu656=) rs748739874
NM_001040142.2(SCN2A):c.1968G>C (p.Leu656=)
NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val) rs368887417
NM_001040142.2(SCN2A):c.1986C>A (p.Thr662=) rs530608927
NM_001040142.2(SCN2A):c.198T>C (p.Tyr66=)
NM_001040142.2(SCN2A):c.1995T>G (p.Ser665=) rs2105277323
NM_001040142.2(SCN2A):c.2005C>T (p.Leu669Phe) rs766470088
NM_001040142.2(SCN2A):c.2010A>G (p.Leu670=)
NM_001040142.2(SCN2A):c.2016+13A>G
NM_001040142.2(SCN2A):c.2016+17T>C rs2105277430
NM_001040142.2(SCN2A):c.2016+18T>G
NM_001040142.2(SCN2A):c.2025T>C (p.Thr675=) rs1698384424
NM_001040142.2(SCN2A):c.2049A>G (p.Arg683=)
NM_001040142.2(SCN2A):c.2052G>A (p.Arg684=)
NM_001040142.2(SCN2A):c.2058T>C (p.Ser686=) rs1334530455
NM_001040142.2(SCN2A):c.2070T>A (p.Val690=) rs1574600370
NM_001040142.2(SCN2A):c.2079T>C (p.Asp693=) rs1553573107
NM_001040142.2(SCN2A):c.2103G>A (p.Arg701=)
NM_001040142.2(SCN2A):c.2112A>G (p.Ala704=)
NM_001040142.2(SCN2A):c.2119A>T (p.Ile707Leu)
NM_001040142.2(SCN2A):c.213A>T (p.Pro71=) rs1574525422
NM_001040142.2(SCN2A):c.2149+11A>C
NM_001040142.2(SCN2A):c.2149+9A>G
NM_001040142.2(SCN2A):c.2150-10T>G rs1057523367
NM_001040142.2(SCN2A):c.2150-17A>C
NM_001040142.2(SCN2A):c.2157A>G (p.Glu719=) rs779574574
NM_001040142.2(SCN2A):c.2277A>G (p.Pro759=)
NM_001040142.2(SCN2A):c.2346C>T (p.Pro782=) rs750905569
NM_001040142.2(SCN2A):c.2352G>A (p.Thr784=) rs369101059
NM_001040142.2(SCN2A):c.2388+20T>G
NM_001040142.2(SCN2A):c.2388+8T>C
NM_001040142.2(SCN2A):c.2389-7C>A
NM_001040142.2(SCN2A):c.2389-9C>T
NM_001040142.2(SCN2A):c.2403C>A (p.Ile801=) rs572550754
NM_001040142.2(SCN2A):c.2406C>T (p.Phe802=)
NM_001040142.2(SCN2A):c.2409A>T (p.Thr803=)
NM_001040142.2(SCN2A):c.2451T>C (p.Tyr817=)
NM_001040142.2(SCN2A):c.24G>T (p.Pro8=)
NM_001040142.2(SCN2A):c.2517T>G (p.Gly839=) rs745823892
NM_001040142.2(SCN2A):c.2562+11T>G
NM_001040142.2(SCN2A):c.2563-13C>T rs1699472180
NM_001040142.2(SCN2A):c.2563-4C>T
NM_001040142.2(SCN2A):c.2568A>G (p.Arg856=)
NM_001040142.2(SCN2A):c.2574C>T (p.Phe858=) rs748244795
NM_001040142.2(SCN2A):c.2598T>C (p.Thr866=) rs1306050789
NM_001040142.2(SCN2A):c.2604T>C (p.Asn868=)
NM_001040142.2(SCN2A):c.2616G>A (p.Lys872=) rs1574641438
NM_001040142.2(SCN2A):c.2637G>T (p.Gly879=)
NM_001040142.2(SCN2A):c.2641C>T (p.Leu881=)
NM_001040142.2(SCN2A):c.267+17G>A rs1240522073
NM_001040142.2(SCN2A):c.268-16G>A
NM_001040142.2(SCN2A):c.268-9C>G
NM_001040142.2(SCN2A):c.2694C>G (p.Val898=) rs1051662437
NM_001040142.2(SCN2A):c.2751T>C (p.Asp917=)
NM_001040142.2(SCN2A):c.2757A>G (p.Glu919=) rs1057520595
NM_001040142.2(SCN2A):c.2787C>T (p.Phe929=)
NM_001040142.2(SCN2A):c.2826G>A (p.Glu942=)
NM_001040142.2(SCN2A):c.2838C>A (p.Thr946=) rs777944503
NM_001040142.2(SCN2A):c.2838C>T (p.Thr946=)
NM_001040142.2(SCN2A):c.2856G>A (p.Glu952=)
NM_001040142.2(SCN2A):c.2886C>T (p.Val962=)
NM_001040142.2(SCN2A):c.2916A>G (p.Leu972=) rs1574642369
NM_001040142.2(SCN2A):c.2919+7A>G
NM_001040142.2(SCN2A):c.2920-4T>G
NM_001040142.2(SCN2A):c.2920-7G>A rs1574664160
NM_001040142.2(SCN2A):c.2928C>T (p.Asn976=) rs2105336790
NM_001040142.2(SCN2A):c.2940C>G (p.Ala980=) rs1574664203
NM_001040142.2(SCN2A):c.2943G>A (p.Leu981=) rs2105336814
NM_001040142.2(SCN2A):c.2985T>C (p.Asp995=) rs1336113495
NM_001040142.2(SCN2A):c.2991T>C (p.Asp997=)
NM_001040142.2(SCN2A):c.2994C>T (p.Asn998=)
NM_001040142.2(SCN2A):c.3027G>A (p.Arg1009=)
NM_001040142.2(SCN2A):c.3039A>G (p.Gly1013=)
NM_001040142.2(SCN2A):c.3042C>T (p.Ile1014=) rs370200920
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.3091A>C (p.Arg1031=) rs1700076343
NM_001040142.2(SCN2A):c.3123G>T (p.Pro1041=) rs147576541
NM_001040142.2(SCN2A):c.315C>T (p.Ala105=)
NM_001040142.2(SCN2A):c.3192C>T (p.Asp1064=)
NM_001040142.2(SCN2A):c.3216T>C (p.Asn1072=) rs1700082579
NM_001040142.2(SCN2A):c.3231C>A (p.Gly1077=) rs775367520
NM_001040142.2(SCN2A):c.3246A>G (p.Val1082=)
NM_001040142.2(SCN2A):c.3297T>C (p.Pro1099=)
NM_001040142.2(SCN2A):c.3303C>T (p.Leu1101=) rs1364091068
NM_001040142.2(SCN2A):c.3399+15_3399+18del
NM_001040142.2(SCN2A):c.3400-12A>G
NM_001040142.2(SCN2A):c.3400-13G>A
NM_001040142.2(SCN2A):c.3400-4T>C rs1178159762
NM_001040142.2(SCN2A):c.3400-4dup rs2105355679
NM_001040142.2(SCN2A):c.3432C>T (p.Ser1144=)
NM_001040142.2(SCN2A):c.3435G>T (p.Thr1145=) rs1345931602
NM_001040142.2(SCN2A):c.3441T>C (p.Asp1147=)
NM_001040142.2(SCN2A):c.3446G>C (p.Gly1149Ala)
NM_001040142.2(SCN2A):c.3447A>G (p.Gly1149=)
NM_001040142.2(SCN2A):c.3456C>A (p.Ala1152=)
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3471T>A (p.Pro1157=)
NM_001040142.2(SCN2A):c.3474G>A (p.Glu1158=)
NM_001040142.2(SCN2A):c.3489A>G (p.Glu1163=)
NM_001040142.2(SCN2A):c.348C>T (p.Asn116=)
NM_001040142.2(SCN2A):c.3516A>G (p.Thr1172=)
NM_001040142.2(SCN2A):c.351T>C (p.Pro117=)
NM_001040142.2(SCN2A):c.3520+14T>C
NM_001040142.2(SCN2A):c.3520+18A>G
NM_001040142.2(SCN2A):c.3520+20A>G
NM_001040142.2(SCN2A):c.3521-10C>T
NM_001040142.2(SCN2A):c.3521-13C>T
NM_001040142.2(SCN2A):c.3530G>C (p.Arg1177Pro) rs773202451
NM_001040142.2(SCN2A):c.3566G>A (p.Gly1189Asp) rs540994733
NM_001040142.2(SCN2A):c.3600A>G (p.Thr1200=)
NM_001040142.2(SCN2A):c.3615G>T (p.Val1205=) rs1700782112
NM_001040142.2(SCN2A):c.3621C>T (p.His1207=)
NM_001040142.2(SCN2A):c.3636C>A (p.Thr1212=)
NM_001040142.2(SCN2A):c.3657G>A (p.Leu1219=)
NM_001040142.2(SCN2A):c.3675+13T>C rs2105359866
NM_001040142.2(SCN2A):c.3675+19A>C
NM_001040142.2(SCN2A):c.3676-19A>G
NM_001040142.2(SCN2A):c.3676-4A>G
NM_001040142.2(SCN2A):c.3690A>T (p.Ile1230=)
NM_001040142.2(SCN2A):c.3696T>C (p.Ile1232=)
NM_001040142.2(SCN2A):c.36C>G (p.Asp12Glu) rs1334730213
NM_001040142.2(SCN2A):c.36C>T (p.Asp12=) rs1334730213
NM_001040142.2(SCN2A):c.3702G>A (p.Gln1234=) rs1198199936
NM_001040142.2(SCN2A):c.3732T>C (p.Tyr1244=)
NM_001040142.2(SCN2A):c.376T>C (p.Leu126=) rs2106151267
NM_001040142.2(SCN2A):c.3810T>C (p.Phe1270=) rs1230638602
NM_001040142.2(SCN2A):c.3819C>T (p.Ala1273=) rs2105365337
NM_001040142.2(SCN2A):c.381A>G (p.Val127=) rs2106151272
NM_001040142.2(SCN2A):c.3831A>G (p.Leu1277=)
NM_001040142.2(SCN2A):c.3846T>A (p.Val1282=)
NM_001040142.2(SCN2A):c.3849+13del
NM_001040142.2(SCN2A):c.3849+15del
NM_001040142.2(SCN2A):c.3849+19G>A
NM_001040142.2(SCN2A):c.3849+19G>C
NM_001040142.2(SCN2A):c.386+18G>A
NM_001040142.2(SCN2A):c.3861T>A (p.Val1287=)
NM_001040142.2(SCN2A):c.3861T>C (p.Val1287=)
NM_001040142.2(SCN2A):c.3861T>G (p.Val1287=) rs1701137260
NM_001040142.2(SCN2A):c.387-11C>T
NM_001040142.2(SCN2A):c.3870T>C (p.Thr1290=) rs1225687118
NM_001040142.2(SCN2A):c.3939A>G (p.Pro1313=) rs1553593075
NM_001040142.2(SCN2A):c.3940C>T (p.Leu1314=) rs1574712123
NM_001040142.2(SCN2A):c.3954C>T (p.Ser1318=) rs139507841
NM_001040142.2(SCN2A):c.3972+9G>A rs1261133567
NM_001040142.2(SCN2A):c.3972+9G>T rs1261133567
NM_001040142.2(SCN2A):c.3973-14T>A
NM_001040142.2(SCN2A):c.3975T>G (p.Val1325=) rs1553593569
NM_001040142.2(SCN2A):c.3981A>G (p.Val1327=)
NM_001040142.2(SCN2A):c.402C>A (p.Leu134=)
NM_001040142.2(SCN2A):c.402C>T (p.Leu134=)
NM_001040142.2(SCN2A):c.4045C>T (p.Leu1349=) rs946393942
NM_001040142.2(SCN2A):c.405T>C (p.Ile135=) rs1225501159
NM_001040142.2(SCN2A):c.411C>T (p.Cys137=) rs1253966876
NM_001040142.2(SCN2A):c.4140C>G (p.Val1380=)
NM_001040142.2(SCN2A):c.4187C>T (p.Ala1396Val) rs914316483
NM_001040142.2(SCN2A):c.4224A>G (p.Val1408=) rs1060504830
NM_001040142.2(SCN2A):c.4245A>C (p.Leu1415=)
NM_001040142.2(SCN2A):c.4254+13T>C
NM_001040142.2(SCN2A):c.4254+15T>C
NM_001040142.2(SCN2A):c.4255-4A>G
NM_001040142.2(SCN2A):c.4260G>A (p.Thr1420=) rs138241682
NM_001040142.2(SCN2A):c.4308+10G>T rs2105378539
NM_001040142.2(SCN2A):c.4309-11A>G
NM_001040142.2(SCN2A):c.4311A>G (p.Val1437=)
NM_001040142.2(SCN2A):c.4320A>G (p.Gln1440=)
NM_001040142.2(SCN2A):c.4329T>C (p.Tyr1443=) rs2105384580
NM_001040142.2(SCN2A):c.432A>G (p.Val144=) rs757533588
NM_001040142.2(SCN2A):c.4341G>T (p.Leu1447=) rs2105384602
NM_001040142.2(SCN2A):c.4353T>G (p.Leu1451=) rs2105384625
NM_001040142.2(SCN2A):c.4383A>T (p.Ser1461=)
NM_001040142.2(SCN2A):c.43C>T (p.Arg15Cys)
NM_001040142.2(SCN2A):c.4404C>T (p.Phe1468=) rs2105384719
NM_001040142.2(SCN2A):c.4446+11T>C
NM_001040142.2(SCN2A):c.4446+15A>G
NM_001040142.2(SCN2A):c.4446+16C>T
NM_001040142.2(SCN2A):c.4446+18T>A
NM_001040142.2(SCN2A):c.4447-20T>G rs2105385618
NM_001040142.2(SCN2A):c.4447-6C>T rs1173151782
NM_001040142.2(SCN2A):c.4491C>T (p.Tyr1497=) rs1372606065
NM_001040142.2(SCN2A):c.44G>A (p.Arg15His)
NM_001040142.2(SCN2A):c.4515T>C (p.Gly1505=)
NM_001040142.2(SCN2A):c.4545A>T (p.Arg1515=)
NM_001040142.2(SCN2A):c.4551+12A>G
NM_001040142.2(SCN2A):c.4551+19C>A rs753272771
NM_001040142.2(SCN2A):c.4551+20A>G
NM_001040142.2(SCN2A):c.4551+8T>G rs1064797263
NM_001040142.2(SCN2A):c.4552-10T>C
NM_001040142.2(SCN2A):c.4552-12T>C
NM_001040142.2(SCN2A):c.4552-14del
NM_001040142.2(SCN2A):c.4552-15T>C
NM_001040142.2(SCN2A):c.4552-16A>G
NM_001040142.2(SCN2A):c.4552-4C>A
NM_001040142.2(SCN2A):c.4552-5T>C
NM_001040142.2(SCN2A):c.4557A>G (p.Lys1519=) rs1574746483
NM_001040142.2(SCN2A):c.4572C>A (p.Val1524=)
NM_001040142.2(SCN2A):c.4572C>T (p.Val1524=) rs776254144
NM_001040142.2(SCN2A):c.4575T>C (p.Phe1525=)
NM_001040142.2(SCN2A):c.4596C>A (p.Val1532=)
NM_001040142.2(SCN2A):c.4596C>G (p.Val1532=) rs371690453
NM_001040142.2(SCN2A):c.4656C>G (p.Thr1552=) rs765041838
NM_001040142.2(SCN2A):c.4659T>C (p.Asp1553=)
NM_001040142.2(SCN2A):c.4686T>A (p.Ile1562=)
NM_001040142.2(SCN2A):c.4719G>C (p.Leu1573=)
NM_001040142.2(SCN2A):c.4738C>T (p.Leu1580=)
NM_001040142.2(SCN2A):c.474G>A (p.Val158=)
NM_001040142.2(SCN2A):c.477-15G>A
NM_001040142.2(SCN2A):c.477-15G>T rs1475312967
NM_001040142.2(SCN2A):c.477-5C>T rs2105243234
NM_001040142.2(SCN2A):c.4779A>T (p.Gly1593=)
NM_001040142.2(SCN2A):c.4797T>C (p.Phe1599=)
NM_001040142.2(SCN2A):c.4822+8G>A rs2105398667
NM_001040142.2(SCN2A):c.4823-15G>T rs375524288
NM_001040142.2(SCN2A):c.4823-6C>A
NM_001040142.2(SCN2A):c.4836T>A (p.Ala1612=) rs144133411
NM_001040142.2(SCN2A):c.483C>G (p.Thr161=)
NM_001040142.2(SCN2A):c.4842G>A (p.Leu1614=)
NM_001040142.2(SCN2A):c.4842G>C (p.Leu1614=)
NM_001040142.2(SCN2A):c.4872G>C (p.Leu1624=) rs1702002389
NM_001040142.2(SCN2A):c.4935G>A (p.Gly1645=)
NM_001040142.2(SCN2A):c.4938C>T (p.Ile1646=)
NM_001040142.2(SCN2A):c.4956T>A (p.Ala1652=)
NM_001040142.2(SCN2A):c.5007G>T (p.Leu1669=) rs1423260538
NM_001040142.2(SCN2A):c.5016C>T (p.Phe1672=)
NM_001040142.2(SCN2A):c.5070G>A (p.Gly1690=)
NM_001040142.2(SCN2A):c.5073C>T (p.Ile1691=) rs1702013086
NM_001040142.2(SCN2A):c.5097C>T (p.Thr1699=)
NM_001040142.2(SCN2A):c.5136C>A (p.Thr1712=)
NM_001040142.2(SCN2A):c.5163A>T (p.Ala1721=)
NM_001040142.2(SCN2A):c.5169T>C (p.Ile1723=)
NM_001040142.2(SCN2A):c.5183C>T (p.Pro1728Leu) rs2105402674
NM_001040142.2(SCN2A):c.5184T>A (p.Pro1728=)
NM_001040142.2(SCN2A):c.5187A>C (p.Pro1729=)
NM_001040142.2(SCN2A):c.5187A>T (p.Pro1729=)
NM_001040142.2(SCN2A):c.5190C>T (p.Asp1730=) rs757159972
NM_001040142.2(SCN2A):c.5271C>G (p.Val1757=) rs2105402892
NM_001040142.2(SCN2A):c.5292C>T (p.Phe1764=)
NM_001040142.2(SCN2A):c.5304G>A (p.Val1768=)
NM_001040142.2(SCN2A):c.5322C>T (p.Val1774=)
NM_001040142.2(SCN2A):c.5346T>C (p.Ala1782=)
NM_001040142.2(SCN2A):c.534C>T (p.Gly178=) rs1559351963
NM_001040142.2(SCN2A):c.5421C>T (p.Pro1807=)
NM_001040142.2(SCN2A):c.5466A>G (p.Ala1822=)
NM_001040142.2(SCN2A):c.546A>G (p.Glu182=)
NM_001040142.2(SCN2A):c.5481T>G (p.Pro1827=)
NM_001040142.2(SCN2A):c.549T>C (p.Asp183=) rs1237372557
NM_001040142.2(SCN2A):c.5514G>A (p.Gln1838=) rs547095921
NM_001040142.2(SCN2A):c.5517C>A (p.Leu1839=) rs148424455
NM_001040142.2(SCN2A):c.555A>G (p.Thr185=) rs1485827292
NM_001040142.2(SCN2A):c.555A>T (p.Thr185=)
NM_001040142.2(SCN2A):c.5592T>C (p.Arg1864=)
NM_001040142.2(SCN2A):c.5619T>C (p.Asp1873=)
NM_001040142.2(SCN2A):c.5644C>A (p.Arg1882=)
NM_001040142.2(SCN2A):c.5682G>A (p.Glu1894=)
NM_001040142.2(SCN2A):c.5697G>T (p.Thr1899=) rs746574956
NM_001040142.2(SCN2A):c.570A>G (p.Pro190=)
NM_001040142.2(SCN2A):c.5721G>T (p.Val1907=) rs1060504829
NM_001040142.2(SCN2A):c.5742G>A (p.Arg1914=)
NM_001040142.2(SCN2A):c.5745T>C (p.Ala1915=) rs1020615406
NM_001040142.2(SCN2A):c.5769A>G (p.Gln1923=)
NM_001040142.2(SCN2A):c.5772A>G (p.Lys1924=)
NM_001040142.2(SCN2A):c.5778A>G (p.Lys1926=)
NM_001040142.2(SCN2A):c.5805C>T (p.Asp1935=)
NM_001040142.2(SCN2A):c.580T>C (p.Leu194=) rs1015952309
NM_001040142.2(SCN2A):c.5832C>G (p.Pro1944=) rs1268874177
NM_001040142.2(SCN2A):c.5835C>T (p.Ile1945=) rs972057381
NM_001040142.2(SCN2A):c.5844T>C (p.Asp1948=)
NM_001040142.2(SCN2A):c.5862G>A (p.Leu1954=)
NM_001040142.2(SCN2A):c.5868G>A (p.Glu1956=)
NM_001040142.2(SCN2A):c.5898G>A (p.Thr1966=) rs761947985
NM_001040142.2(SCN2A):c.5901T>G (p.Pro1967=)
NM_001040142.2(SCN2A):c.591A>G (p.Thr197=)
NM_001040142.2(SCN2A):c.5928T>C (p.Asp1976=) rs755379418
NM_001040142.2(SCN2A):c.5955A>G (p.Lys1985=) rs572474239
NM_001040142.2(SCN2A):c.6009T>C (p.Ser2003=) rs748224005
NM_001040142.2(SCN2A):c.6015G>A (p.Lys2005=) rs1301968587
NM_001040142.2(SCN2A):c.605+14_605+15insTA
NM_001040142.2(SCN2A):c.605+15A>T
NM_001040142.2(SCN2A):c.605+16C>T
NM_001040142.2(SCN2A):c.606-13C>A
NM_001040142.2(SCN2A):c.606-13_606-12insT rs2105244802
NM_001040142.2(SCN2A):c.606-18G>A
NM_001040142.2(SCN2A):c.606-6_606-4del rs2105244825
NM_001040142.2(SCN2A):c.606-7A>T
NM_001040142.2(SCN2A):c.606-8del rs1697308967
NM_001040142.2(SCN2A):c.636T>C (p.Asn212=) rs2105244918
NM_001040142.2(SCN2A):c.645G>A (p.Ala215=) rs370724112
NM_001040142.2(SCN2A):c.646T>C (p.Leu216=)
NM_001040142.2(SCN2A):c.654A>G (p.Thr218=) rs2105244995
NM_001040142.2(SCN2A):c.666C>T (p.Leu222=) rs2105245029
NM_001040142.2(SCN2A):c.681A>G (p.Thr227=) rs2228987
NM_001040142.2(SCN2A):c.684T>A (p.Ile228=) rs2105245070
NM_001040142.2(SCN2A):c.687A>G (p.Ser229=) rs779972161
NM_001040142.2(SCN2A):c.697+11G>T
NM_001040142.2(SCN2A):c.698-14G>T rs1697359238
NM_001040142.2(SCN2A):c.780C>T (p.Ser260=)
NM_001040142.2(SCN2A):c.792A>G (p.Leu264=)
NM_001040142.2(SCN2A):c.795A>C (p.Ile265=)
NM_001040142.2(SCN2A):c.816C>A (p.Gly272=) rs2105247434
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=) rs1162322343
NM_001040142.2(SCN2A):c.876C>A (p.Ile292=)
NM_001040142.2(SCN2A):c.909T>C (p.Asn303=) rs756068683
NM_001040142.2(SCN2A):c.916A>T (p.Thr306Ser) rs370114048
NM_001040142.2(SCN2A):c.924T>C (p.Asn308=)
NM_001040142.2(SCN2A):c.966T>C (p.Asp322=)
NM_001040142.2(SCN2A):c.970+11C>G
NM_001040142.2(SCN2A):c.970+15A>G
NM_001040142.2(SCN2A):c.970+20C>A
NM_001040142.2(SCN2A):c.970+20C>G rs190639791
NM_001040142.2(SCN2A):c.970+8A>C
NM_001040142.2(SCN2A):c.970+8A>G
NM_001040142.2(SCN2A):c.971-10C>G
NM_001040142.2(SCN2A):c.971-20A>G
NM_001040142.2(SCN2A):c.971-6A>C
NM_001040142.2(SCN2A):c.972T>C (p.Ser324=)
NM_032776.3(JMJD1C):c.1516C>G (p.Pro506Ala) rs1847769670
NM_145239.3(PRRT2):c.647C>A (p.Pro216His) rs76335820
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820

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.