ClinVar Miner

List of variants studied for benign partial infantile seizures by Mendelics

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu) rs995379212 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys) rs747086776
NM_001040142.2(SCN2A):c.1271T>G (p.Val424Gly) rs796053181
NM_001040142.2(SCN2A):c.1384-2A>G rs1574571769
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr) rs1574641522
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu) rs1574641605
NM_001040142.2(SCN2A):c.2725G>A (p.Glu909Lys) rs1553579374
NM_001040142.2(SCN2A):c.2854G>T (p.Glu952Ter) rs1553579543
NM_001040142.2(SCN2A):c.3209dup (p.Asp1070fs) rs2105337298
NM_001040142.2(SCN2A):c.3399+1del rs2105337639
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg) rs1574697769
NM_001040142.2(SCN2A):c.3997G>T (p.Ala1333Ser) rs796053132
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile) rs1574716524
NM_001040142.2(SCN2A):c.4316T>G (p.Leu1439Ter) rs2105384553
NM_001040142.2(SCN2A):c.4517C>G (p.Ser1506Ter) rs1287017958
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.4688T>G (p.Leu1563Arg) rs1574746935
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro) rs1702006258
NM_001040142.2(SCN2A):c.507del (p.Glu169fs) rs1574554892
NM_001040142.2(SCN2A):c.5113A>C (p.Ile1705Leu) rs1574752113
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) rs1574752700
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg) rs1574754680
NM_001040142.2(SCN2A):c.634A>G (p.Asn212Asp) rs2105244906
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala) rs1574556643
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686

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