ClinVar Miner

List of variants in gene SCN2A reported as uncertain significance for Benign familial neonatal-infantile seizures

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Gene type:
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Total variants: 73
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HGVS dbSNP
NM_001040142.2(SCN2A):c.*1000G>T rs886055003
NM_001040142.2(SCN2A):c.*1003G>C rs886055004
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.*1592G>A
NM_001040142.2(SCN2A):c.*1622T>C
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.*2358A>C rs191911206
NM_001040142.2(SCN2A):c.*2374T>G
NM_001040142.2(SCN2A):c.*2454C>T rs886055008
NM_001040142.2(SCN2A):c.*264C>T
NM_001040142.2(SCN2A):c.*291G>T rs886055002
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.*690G>A
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.1035-15C>G rs761906987
NM_001040142.2(SCN2A):c.1441G>A (p.Gly481Arg) rs369488860
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312
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.2619C>A (p.Ile873=)
NM_001040142.2(SCN2A):c.2664G>A (p.Leu888=)
NM_001040142.2(SCN2A):c.2725G>A (p.Glu909Lys) rs1553579374
NM_001040142.2(SCN2A):c.2766C>T (p.Arg922=)
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu) rs995379212
NM_001040142.2(SCN2A):c.3521-15T>C rs886055000
NM_001040142.2(SCN2A):c.3637T>G (p.Phe1213Val) rs797044946
NM_001040142.2(SCN2A):c.4134C>T (p.Ser1378=) rs145465905
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=) rs138241682
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.4775T>C (p.Ile1592Thr)
NM_001040142.2(SCN2A):c.5113A>C (p.Ile1705Leu) rs1574752113
NM_001040142.2(SCN2A):c.5620G>A (p.Ala1874Thr) rs753977894
NM_001040142.2(SCN2A):c.5677T>A (p.Tyr1893Asn)
NM_001040142.2(SCN2A):c.5788A>G (p.Ser1930Gly) rs886055001
NM_001040142.2(SCN2A):c.609T>C (p.Tyr203=)

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