ClinVar Miner

List of variants reported as uncertain significance for benign partial infantile seizures by Illumina Laboratory Services, Illumina

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.-51-1734del rs886054994 0.00064
NM_001040142.2(SCN2A):c.*2374T>G rs544322279 0.00039
NM_001040142.2(SCN2A):c.*2039A>G rs554913735 0.00038
NM_001040142.2(SCN2A):c.-51-1762A>T rs1208312868 0.00035
NM_001040142.2(SCN2A):c.*2358A>C rs191911206 0.00016
NM_001040142.2(SCN2A):c.*88G>A rs574867892 0.00014
NM_001040142.2(SCN2A):c.*1000G>T rs886055003 0.00007
NM_001040142.2(SCN2A):c.*1622T>C rs554984144 0.00005
NM_001040142.2(SCN2A):c.*1264A>G rs951534441 0.00004
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312 0.00004
NM_001040142.2(SCN2A):c.5620G>A (p.Ala1874Thr) rs753977894 0.00004
NM_001040142.2(SCN2A):c.*1003G>C rs886055004 0.00003
NM_001040142.2(SCN2A):c.*1433A>G rs886055005 0.00003
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=) rs138241682 0.00003
NM_001040142.2(SCN2A):c.*690G>A rs1322180654 0.00002
NM_001040142.2(SCN2A):c.-51-1729T>C rs886054998 0.00002
NM_001040142.2(SCN2A):c.3521-15T>C rs886055000 0.00002
NM_001040142.2(SCN2A):c.*1778A>C rs886055006 0.00001
NM_001040142.2(SCN2A):c.*535A>G rs770662807 0.00001
NM_001040142.2(SCN2A):c.-51-1758A>C rs867379149 0.00001
NM_001040142.2(SCN2A):c.-51-1914C>T rs886054989 0.00001
NM_001040142.2(SCN2A):c.-51-1925G>A rs749326085 0.00001
NM_001040142.2(SCN2A):c.1035-15C>G rs761906987 0.00001
NM_001040142.2(SCN2A):c.1441G>A (p.Gly481Arg) rs369488860 0.00001
NM_001040142.2(SCN2A):c.2766C>T (p.Arg922=) rs202006528 0.00001
NM_001040142.2(SCN2A):c.4134C>T (p.Ser1378=) rs145465905 0.00001
NM_001040142.2(SCN2A):c.4775T>C (p.Ile1592Thr) rs199641159 0.00001
NM_001040142.2(SCN2A):c.5788A>G (p.Ser1930Gly) rs886055001 0.00001
NM_001040142.2(SCN2A):c.*1209C>T rs1702103045
NM_001040142.2(SCN2A):c.*1359G>T rs1702107512
NM_001040142.2(SCN2A):c.*1592G>A rs902494496
NM_001040142.2(SCN2A):c.*1825A>G rs886055007
NM_001040142.2(SCN2A):c.*2454C>T rs886055008
NM_001040142.2(SCN2A):c.*264C>T rs1702070313
NM_001040142.2(SCN2A):c.*291G>T rs886055002
NM_001040142.2(SCN2A):c.*437G>A rs553239308
NM_001040142.2(SCN2A):c.*47G>A rs377384458
NM_001040142.2(SCN2A):c.*47G>T rs377384458
NM_001040142.2(SCN2A):c.*535A>T rs770662807
NM_001040142.2(SCN2A):c.*987A>G rs958016137
NM_001040142.2(SCN2A):c.-42A>C rs755901960
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.-51-1733A>T rs76193610
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.-51-1735_-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.1976G>T (p.Gly659Val) rs368887417
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala) rs796053111
NM_001040142.2(SCN2A):c.2619C>A (p.Ile873=) rs868404050
NM_001040142.2(SCN2A):c.2664G>A (p.Leu888=) rs1699478461
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.3637T>G (p.Phe1213Val) rs797044946
NM_001040142.2(SCN2A):c.5677T>A (p.Tyr1893Asn) rs1702040004
NM_001040142.2(SCN2A):c.609T>C (p.Tyr203=) rs1697310016

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.