ClinVar Miner

List of variants reported as pathogenic for infancy electroclinical syndrome by Neurology Department, Shenzhen Children's Hospital

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1261T>G (p.Leu421Val) rs2105255913
NM_001040142.2(SCN2A):c.1288G>A (p.Glu430Lys) rs1553568990
NM_001040142.2(SCN2A):c.1307T>C (p.Leu436Ser) rs1553569010
NM_001040142.2(SCN2A):c.1737C>G (p.Ser579Arg) rs2105276771
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser) rs1553579282
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2870C>A (p.Thr957Asn) rs2105319167
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val) rs2105319172
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4015A>G (p.Asn1339Asp) rs2105373027
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) rs796053134
NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val) rs796053135
NM_001040142.2(SCN2A):c.4364T>A (p.Ile1455Asn) rs2105384629
NM_001040142.2(SCN2A):c.4432C>A (p.Gln1478Lys) rs1553462132
NM_001040142.2(SCN2A):c.4498G>A (p.Ala1500Thr) rs2105385811
NM_001040142.2(SCN2A):c.4523A>T (p.Lys1508Ile) rs2105385886
NM_001040142.2(SCN2A):c.4610T>C (p.Ile1537Thr) rs1553463038
NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr) rs2105398463
NM_001040142.2(SCN2A):c.4835C>G (p.Ala1612Gly) rs2105402019
NM_001040142.2(SCN2A):c.4948C>A (p.Leu1650Ile) rs1702008323
NM_001040142.2(SCN2A):c.5144G>T (p.Gly1715Val) rs1702015681
NM_001040142.2(SCN2A):c.5198del (p.Pro1733fs) rs2105402711
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5558A>G (p.His1853Arg) rs2105403389
NM_001040142.2(SCN2A):c.5640A>C (p.Glu1880Asp) rs2105403544
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.640T>C (p.Ser214Pro) rs1057517854
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.707C>G (p.Thr236Ser) rs2105247122
NM_001040142.2(SCN2A):c.752T>C (p.Val251Ala) rs2105247262
NM_001040142.2(SCN2A):c.807G>T (p.Leu269Phe) rs2105247416

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