ClinVar Miner

List of variants in gene SCN2A studied for not specified

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Gene type:
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Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371 0.82016
NM_001040142.2(SCN2A):c.1672-16C>T rs1867864 0.56164
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198 0.25169
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
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_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_001040142.2(SCN2A):c.3675+19A>G rs142439830 0.00367
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137 0.00096
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515 0.00079
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389 0.00076
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=) rs140417984 0.00069
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924 0.00068
NM_001040142.2(SCN2A):c.386+17C>T rs201918346 0.00066
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001040142.2(SCN2A):c.2389-18A>C rs376273827 0.00063
NM_001040142.2(SCN2A):c.2388+9C>A rs191955969 0.00054
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414 0.00050
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_001040142.2(SCN2A):c.2149+8A>G rs199897920 0.00033
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.2923C>T (p.Leu975=) rs375858093 0.00025
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552 0.00023
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455 0.00017
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile) rs142128956 0.00016
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.2149+19G>A rs188453890 0.00015
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939 0.00015
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667 0.00014
NM_001040142.2(SCN2A):c.3520+11C>T rs187452739 0.00013
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.5364G>A (p.Glu1788=) rs199925238 0.00012
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892 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.4989C>T (p.Ile1663=) rs373347369 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.1384-4C>G rs113191507 0.00008
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780 0.00008
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00008
NM_001040142.2(SCN2A):c.-51-1658G>T rs796053109 0.00007
NM_001040142.2(SCN2A):c.3521-12C>T rs370419172 0.00007
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
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.3456C>T (p.Ala1152=) rs144325450 0.00006
NM_001040142.2(SCN2A):c.1177-16C>G rs553983883 0.00005
NM_001040142.2(SCN2A):c.1536A>G (p.Glu512=) rs201680546 0.00004
NM_001040142.2(SCN2A):c.1841C>T (p.Pro614Leu) rs143734912 0.00004
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156 0.00004
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352 0.00004
NM_001040142.2(SCN2A):c.3676-20T>C rs1057522535 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.5097C>G (p.Thr1699=) rs950010627 0.00004
NM_001040142.2(SCN2A):c.5672T>A (p.Val1891Asp) rs758908934 0.00004
NM_001040142.2(SCN2A):c.2304C>T (p.Cys768=) rs764479273 0.00003
NM_001040142.2(SCN2A):c.2563-4C>A rs561375550 0.00003
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407 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.5166T>C (p.Pro1722=) rs760587370 0.00003
NM_001040142.2(SCN2A):c.1436G>T (p.Gly479Val) rs763114190 0.00002
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His) rs150040573 0.00002
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574 0.00002
NM_001040142.2(SCN2A):c.252C>T (p.Tyr84=) rs143065769 0.00002
NM_001040142.2(SCN2A):c.270G>A (p.Thr90=) rs776081713 0.00002
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421 0.00002
NM_001040142.2(SCN2A):c.4552-9T>C rs760228082 0.00002
NM_001040142.2(SCN2A):c.5119C>T (p.Leu1707=) rs2227897 0.00002
NM_001040142.2(SCN2A):c.698-20C>T rs748075978 0.00002
NM_001040142.2(SCN2A):c.-51-1657G>T rs962697383 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.1177-15T>G rs1398497493 0.00001
NM_001040142.2(SCN2A):c.1383+20G>A rs567354567 0.00001
NM_001040142.2(SCN2A):c.1578G>A (p.Ser526=) rs141269163 0.00001
NM_001040142.2(SCN2A):c.1866C>T (p.His622=) rs377388875 0.00001
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=) rs149230197 0.00001
NM_001040142.2(SCN2A):c.2016+10A>G rs886042771 0.00001
NM_001040142.2(SCN2A):c.2388+12T>C rs749226972 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.2859C>T (p.Val953=) rs139967593 0.00001
NM_001040142.2(SCN2A):c.2919+16A>G rs1343240110 0.00001
NM_001040142.2(SCN2A):c.3255T>C (p.Tyr1085=) rs1057521230 0.00001
NM_001040142.2(SCN2A):c.3870T>A (p.Thr1290=) rs1225687118 0.00001
NM_001040142.2(SCN2A):c.4121T>A (p.Met1374Lys) rs555250264 0.00001
NM_001040142.2(SCN2A):c.477-13T>C rs973711914 0.00001
NM_001040142.2(SCN2A):c.4977G>A (p.Ala1659=) rs1250394077 0.00001
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233 0.00001
NM_001040142.2(SCN2A):c.5697G>A (p.Thr1899=) rs746574956 0.00001
NM_001040142.2(SCN2A):c.5787A>G (p.Ser1929=) rs1553463866 0.00001
NM_001040142.2(SCN2A):c.5960A>G (p.Glu1987Gly) rs757068860 0.00001
NM_001040142.2(SCN2A):c.605+13A>G rs1553567417 0.00001
NM_001040142.2(SCN2A):c.672A>G (p.Ala224=) rs2228986 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001
GRCh37/hg19 2q24.3(chr2:166181967-166210982)
NM_001040142.2(SCN2A):c.-41T>C rs777439927
NM_001040142.2(SCN2A):c.1156T>C (p.Trp386Arg)
NM_001040142.2(SCN2A):c.1165C>A (p.Leu389Ile)
NM_001040142.2(SCN2A):c.1219C>T (p.Leu407=) rs587781155
NM_001040142.2(SCN2A):c.1351G>A (p.Glu451Lys) rs1057518350
NM_001040142.2(SCN2A):c.1389A>G (p.Ala463=) rs9333575
NM_001040142.2(SCN2A):c.1599A>G (p.Arg533=) rs1553569785
NM_001040142.2(SCN2A):c.1672-7T>C rs1553571855
NM_001040142.2(SCN2A):c.177A>C (p.Gly59=) rs796053110
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_001040142.2(SCN2A):c.1833G>A (p.Leu611=) rs1057522258
NM_001040142.2(SCN2A):c.1966C>T (p.Leu656=) rs748739874
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala) rs796053111
NM_001040142.2(SCN2A):c.2079T>C (p.Asp693=) rs1553573107
NM_001040142.2(SCN2A):c.2150-10T>G rs1057523367
NM_001040142.2(SCN2A):c.2225G>A (p.Cys742Tyr) rs1553574575
NM_001040142.2(SCN2A):c.2352G>A (p.Thr784=) rs369101059
NM_001040142.2(SCN2A):c.2637G>C (p.Gly879=) rs1490972796
NM_001040142.2(SCN2A):c.268-19G>A rs898178511
NM_001040142.2(SCN2A):c.2757A>G (p.Glu919=) rs1057520595
NM_001040142.2(SCN2A):c.2760C>T (p.Leu920=) rs1057523075
NM_001040142.2(SCN2A):c.2764C>T (p.Arg922Cys) rs1008211605
NM_001040142.2(SCN2A):c.3040A>T (p.Ile1014Phe) rs2105336961
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3630C>G (p.Phe1210Leu) rs371422797
NM_001040142.2(SCN2A):c.3702G>A (p.Gln1234=) rs1198199936
NM_001040142.2(SCN2A):c.3850-13T>C
NM_001040142.2(SCN2A):c.3852C>T (p.Val1284=) rs1057521569
NM_001040142.2(SCN2A):c.3897T>A (p.Leu1299=) rs1553593036
NM_001040142.2(SCN2A):c.3939A>G (p.Pro1313=) rs1553593075
NM_001040142.2(SCN2A):c.4045C>T (p.Leu1349=) rs946393942
NM_001040142.2(SCN2A):c.4309-10T>C rs1057522929
NM_001040142.2(SCN2A):c.4312G>A (p.Glu1438Lys) rs1553462096
NM_001040142.2(SCN2A):c.432A>G (p.Val144=) rs757533588
NM_001040142.2(SCN2A):c.4386C>G (p.Phe1462Leu) rs1701553066
NM_001040142.2(SCN2A):c.4447-6C>T rs1173151782
NM_001040142.2(SCN2A):c.4461C>T (p.Asp1487=) rs1553462203
NM_001040142.2(SCN2A):c.4596C>A (p.Val1532=)
NM_001040142.2(SCN2A):c.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle) rs796053195
NM_001040142.2(SCN2A):c.4736T>C (p.Val1579Ala) rs1384116109
NM_001040142.2(SCN2A):c.481A>T (p.Thr161Ser) rs1006842752
NM_001040142.2(SCN2A):c.4823-15G>T rs375524288
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.489A>G (p.Thr163=) rs1057520898
NM_001040142.2(SCN2A):c.4915C>T (p.Leu1639=) rs796053108
NM_001040142.2(SCN2A):c.4944G>A (p.Thr1648=) rs565309819
NM_001040142.2(SCN2A):c.5187A>G (p.Pro1729=) rs587780449
NM_001040142.2(SCN2A):c.5388G>A (p.Glu1796=) rs587781153
NM_001040142.2(SCN2A):c.5493A>G (p.Ile1831Met) rs1553463680
NM_001040142.2(SCN2A):c.605+15_605+16delinsTATT rs1553567419
NM_001040142.2(SCN2A):c.607T>G (p.Tyr203Asp) rs1553567515
NM_001040142.2(SCN2A):c.681A>C (p.Thr227=) rs2228987
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=) rs1162322343
NM_001040142.2(SCN2A):c.913ACT[3] (p.Thr306dup) rs1469280756
NM_001040142.2(SCN2A):c.916A>T (p.Thr306Ser) rs370114048
NM_001040142.2(SCN2A):c.975C>T (p.His325=) rs1553568322

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