ClinVar Miner

List of variants in gene SCN2A studied for Benign familial neonatal-infantile seizures

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Gene type:
ClinVar version:
Total variants: 172
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HGVS dbSNP
NC_000002.11:g.(?_166152283)_(166246384_?)dup
NM_001040142.1(SCN2A):c.*2490G>A rs189308010
NM_001040142.2(SCN2A):c.*1000G>T rs886055003
NM_001040142.2(SCN2A):c.*1003G>C rs886055004
NM_001040142.2(SCN2A):c.*1036T>C
NM_001040142.2(SCN2A):c.*1056T>C
NM_001040142.2(SCN2A):c.*1209C>T
NM_001040142.2(SCN2A):c.*1264A>G
NM_001040142.2(SCN2A):c.*1359G>T
NM_001040142.2(SCN2A):c.*1433A>G rs886055005
NM_001040142.2(SCN2A):c.*1474G>A rs138232803
NM_001040142.2(SCN2A):c.*1507T>G rs149580267
NM_001040142.2(SCN2A):c.*1592G>A
NM_001040142.2(SCN2A):c.*1622T>C
NM_001040142.2(SCN2A):c.*1713G>A rs1007722
NM_001040142.2(SCN2A):c.*1753C>T rs74881341
NM_001040142.2(SCN2A):c.*1758C>T rs75263553
NM_001040142.2(SCN2A):c.*1778A>C rs886055006
NM_001040142.2(SCN2A):c.*1825A>G rs886055007
NM_001040142.2(SCN2A):c.*2039A>G rs554913735
NM_001040142.2(SCN2A):c.*2222G>A rs187365022
NM_001040142.2(SCN2A):c.*2358A>C rs191911206
NM_001040142.2(SCN2A):c.*2364T>G rs73969402
NM_001040142.2(SCN2A):c.*2374T>G
NM_001040142.2(SCN2A):c.*2422G>T rs73972503
NM_001040142.2(SCN2A):c.*2423A>G rs77976453
NM_001040142.2(SCN2A):c.*2440C>G rs73972504
NM_001040142.2(SCN2A):c.*2454C>T rs886055008
NM_001040142.2(SCN2A):c.*2480A>G
NM_001040142.2(SCN2A):c.*264C>T
NM_001040142.2(SCN2A):c.*291G>T rs886055002
NM_001040142.2(SCN2A):c.*417C>T rs141754622
NM_001040142.2(SCN2A):c.*437G>A
NM_001040142.2(SCN2A):c.*47G>A
NM_001040142.2(SCN2A):c.*47G>T rs377384458
NM_001040142.2(SCN2A):c.*535A>G
NM_001040142.2(SCN2A):c.*535A>T rs770662807
NM_001040142.2(SCN2A):c.*557G>A rs182846824
NM_001040142.2(SCN2A):c.*690G>A
NM_001040142.2(SCN2A):c.*792A>G rs539290679
NM_001040142.2(SCN2A):c.*853C>T rs188104763
NM_001040142.2(SCN2A):c.*874A>G
NM_001040142.2(SCN2A):c.*88G>A rs574867892
NM_001040142.2(SCN2A):c.*987A>G
NM_001040142.2(SCN2A):c.-42A>C
NM_001040142.2(SCN2A):c.-51-1652A>G rs886054999
NM_001040142.2(SCN2A):c.-51-1720dup rs1553563950
NM_001040142.2(SCN2A):c.-51-1721_-51-1720dup rs1553563950
NM_001040142.2(SCN2A):c.-51-1729T>C rs886054998
NM_001040142.2(SCN2A):c.-51-1733A>T
NM_001040142.2(SCN2A):c.-51-1733_-51-1732dup rs886054996
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAA rs1553563951
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAAT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATTT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAGATT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGAT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGATT rs780674346
NM_001040142.2(SCN2A):c.-51-1734G>A rs886054990
NM_001040142.2(SCN2A):c.-51-1734_-51-1733del rs1553563943
NM_001040142.2(SCN2A):c.-51-1734del rs886054994
NM_001040142.2(SCN2A):c.-51-1735_-51-1733del rs886054992
NM_001040142.2(SCN2A):c.-51-1735del rs67417831
NM_001040142.2(SCN2A):c.-51-1736_-51-1735del rs67417831
NM_001040142.2(SCN2A):c.-51-1736_-51-1735dup rs67417831
NM_001040142.2(SCN2A):c.-51-1737_-51-1735dup rs67417831
NM_001040142.2(SCN2A):c.-51-1758A>C
NM_001040142.2(SCN2A):c.-51-1762A>T
NM_001040142.2(SCN2A):c.-51-1914C>T rs886054989
NM_001040142.2(SCN2A):c.-51-1925G>A rs749326085
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_001040142.2(SCN2A):c.1035-15C>G rs761906987
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371
NM_001040142.2(SCN2A):c.122G>A (p.Arg41His)
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_001040142.2(SCN2A):c.1384-2A>G rs1574571769
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820
NM_001040142.2(SCN2A):c.1441G>A (p.Gly481Arg) rs369488860
NM_001040142.2(SCN2A):c.1542T>C (p.Ser514=)
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417
NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val) rs368887417
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala) rs796053111
NM_001040142.2(SCN2A):c.2005C>T (p.Leu669Phe)
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln) rs146949852
NM_001040142.2(SCN2A):c.2157A>G (p.Glu719=) rs779574574
NM_001040142.2(SCN2A):c.2175C>T (p.Cys725=)
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2619C>A (p.Ile873=)
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu) rs1574641605
NM_001040142.2(SCN2A):c.2664G>A (p.Leu888=)
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040142.2(SCN2A):c.2725G>A (p.Glu909Lys) rs1553579374
NM_001040142.2(SCN2A):c.2766C>T (p.Arg922=)
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004
NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile) rs121917754
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.3123G>A (p.Pro1041=) rs147576541
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs) rs587780450
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu) rs995379212
NM_001040142.2(SCN2A):c.3521-15T>C rs886055000
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3637T>G (p.Phe1213Val) rs797044946
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg) rs1574697769
NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=) rs527970192
NM_001040142.2(SCN2A):c.387-10G>A rs2304015
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe) rs121917749
NM_001040142.2(SCN2A):c.4134C>T (p.Ser1378=) rs145465905
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile) rs1574716524
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=) rs138241682
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val) rs121917750
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg) rs1574746935
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4775T>C (p.Ile1592Thr)
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369
NM_001040142.2(SCN2A):c.507del (p.Glu169fs) rs1574554892
NM_001040142.2(SCN2A):c.5113A>C (p.Ile1705Leu) rs1574752113
NM_001040142.2(SCN2A):c.5117G>C (p.Cys1706Ser) rs1553463513
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) rs1574752700
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_001040142.2(SCN2A):c.5544T>C (p.Ser1848=) rs761713186
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp) rs1553463718
NM_001040142.2(SCN2A):c.5620G>A (p.Ala1874Thr) rs753977894
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748
NM_001040142.2(SCN2A):c.5677T>A (p.Tyr1893Asn)
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814
NM_001040142.2(SCN2A):c.5788A>G (p.Ser1930Gly) rs886055001
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg) rs1574754680
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.609T>C (p.Tyr203=)
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala) rs1574556643
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.681A>G (p.Thr227=)
NM_001040142.2(SCN2A):c.754A>G (p.Met252Val) rs387906687
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=) rs201685102
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054

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