ClinVar Miner

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

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Gene type:
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Total variants: 111
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HGVS dbSNP
NC_000002.12:g.(?_165295773)_(165389874_?)dup
NM_001040142.1(SCN2A):c.*2490G>A rs189308010
NM_001040142.1(SCN2A):c.3007C>A (p.Leu1003Ile) rs121917754
NM_001040142.1(SCN2A):c.3988C>T (p.Leu1330Phe) rs121917749
NM_001040142.1(SCN2A):c.562C>T (p.Arg188Trp) rs121917748
NM_001040142.1(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.1(SCN2A):c.754A>G (p.Met252Val) rs387906687
NM_021007.2(SCN2A):c.*1000G>T rs886055003
NM_021007.2(SCN2A):c.*1003G>C rs886055004
NM_021007.2(SCN2A):c.*1433A>G rs886055005
NM_021007.2(SCN2A):c.*1474G>A rs138232803
NM_021007.2(SCN2A):c.*1507T>G rs149580267
NM_021007.2(SCN2A):c.*1713G>A rs1007722
NM_021007.2(SCN2A):c.*1753C>T rs74881341
NM_021007.2(SCN2A):c.*1758C>T rs75263553
NM_021007.2(SCN2A):c.*1778A>C rs886055006
NM_021007.2(SCN2A):c.*1825A>G rs886055007
NM_021007.2(SCN2A):c.*2039A>G rs554913735
NM_021007.2(SCN2A):c.*2222G>A rs187365022
NM_021007.2(SCN2A):c.*2358A>C rs191911206
NM_021007.2(SCN2A):c.*2364T>G rs73969402
NM_021007.2(SCN2A):c.*2422G>T rs73972503
NM_021007.2(SCN2A):c.*2423A>G rs77976453
NM_021007.2(SCN2A):c.*2440C>G rs73972504
NM_021007.2(SCN2A):c.*2454C>T rs886055008
NM_021007.2(SCN2A):c.*291G>T rs886055002
NM_021007.2(SCN2A):c.*417C>T rs141754622
NM_021007.2(SCN2A):c.*47G>T rs377384458
NM_021007.2(SCN2A):c.*535A>T rs770662807
NM_021007.2(SCN2A):c.*557G>A rs182846824
NM_021007.2(SCN2A):c.*792A>G rs539290679
NM_021007.2(SCN2A):c.*853C>T rs188104763
NM_021007.2(SCN2A):c.*88G>A rs574867892
NM_021007.2(SCN2A):c.-134dupT rs1553563950
NM_021007.2(SCN2A):c.-135_-134dupTT rs1553563950
NM_021007.2(SCN2A):c.-143T>C rs886054998
NM_021007.2(SCN2A):c.-147_-146dupAT rs886054996
NM_021007.2(SCN2A):c.-147_-146insAA rs1553563951
NM_021007.2(SCN2A):c.-147_-146insAAAT rs780674346
NM_021007.2(SCN2A):c.-147_-146insAAT rs780674346
NM_021007.2(SCN2A):c.-147_-146insAATT rs780674346
NM_021007.2(SCN2A):c.-147_-146insAATTT rs780674346
NM_021007.2(SCN2A):c.-147_-146insAGATT rs780674346
NM_021007.2(SCN2A):c.-147_-146insGAT rs780674346
NM_021007.2(SCN2A):c.-147_-146insGATT rs780674346
NM_021007.2(SCN2A):c.-148G>A rs886054990
NM_021007.2(SCN2A):c.-148_-147delGA rs1553563943
NM_021007.2(SCN2A):c.-148delG rs886054994
NM_021007.2(SCN2A):c.-149_-147delAGA rs886054992
NM_021007.2(SCN2A):c.-149delA rs67417831
NM_021007.2(SCN2A):c.-150_-149delAA rs67417831
NM_021007.2(SCN2A):c.-150_-149dupAA rs67417831
NM_021007.2(SCN2A):c.-151_-149dupAAA rs67417831
NM_021007.2(SCN2A):c.-328C>T rs886054989
NM_021007.2(SCN2A):c.-339G>A rs749326085
NM_021007.2(SCN2A):c.-66A>G rs886054999
NM_021007.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_021007.2(SCN2A):c.1035-15C>G rs761906987
NM_021007.2(SCN2A):c.1035-3T>C rs2121371
NM_021007.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_021007.2(SCN2A):c.1441G>A (p.Gly481Arg) rs369488860
NM_021007.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780
NM_021007.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642
NM_021007.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466
NM_021007.2(SCN2A):c.1959G>A (p.Val653=) rs200546427
NM_021007.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417
NM_021007.2(SCN2A):c.1984A>G (p.Thr662Ala) rs796053111
NM_021007.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_021007.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732
NM_021007.2(SCN2A):c.2157A>G (p.Glu719=) rs779574574
NM_021007.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_021007.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_021007.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_021007.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004
NM_021007.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_021007.2(SCN2A):c.3123G>A (p.Pro1041=) rs147576541
NM_021007.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352
NM_021007.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286
NM_021007.2(SCN2A):c.3374del (p.Glu1125Glyfs) rs587780450
NM_021007.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_021007.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_021007.2(SCN2A):c.3521-15T>C rs886055000
NM_021007.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137
NM_021007.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_021007.2(SCN2A):c.3735T>C (p.Ala1245=) rs527970192
NM_021007.2(SCN2A):c.387-10G>A rs2304015
NM_021007.2(SCN2A):c.3956G>A (p.Arg1319Gln) rs121917753
NM_021007.2(SCN2A):c.4134C>T (p.Ser1378=) rs145465905
NM_021007.2(SCN2A):c.4260G>T (p.Thr1420=) rs138241682
NM_021007.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984
NM_021007.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_021007.2(SCN2A):c.4687C>G (p.Leu1563Val) rs121917750
NM_021007.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198
NM_021007.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369
NM_021007.2(SCN2A):c.5117G>C (p.Cys1706Ser) rs1553463513
NM_021007.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414
NM_021007.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_021007.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238
NM_021007.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_021007.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_021007.2(SCN2A):c.5544T>C (p.Ser1848=) rs761713186
NM_021007.2(SCN2A):c.5551C>T (p.Arg1851Trp) rs1553463718
NM_021007.2(SCN2A):c.5620G>A (p.Ala1874Thr) rs753977894
NM_021007.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_021007.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814
NM_021007.2(SCN2A):c.5788A>G (p.Ser1930Gly) rs886055001
NM_021007.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869
NM_021007.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892
NM_021007.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_021007.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_021007.2(SCN2A):c.960T>C (p.Ile320=) rs185590667

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