ClinVar Miner

List of variants studied for benign familial infantile epilepsy by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405 0.00027
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=) rs138241682 0.00003
NM_001371246.1(SCN2A):c.687T>C (p.Ser229=) rs746904068 0.00002
NM_001040142.2(SCN2A):c.2149+3A>C rs1474808070 0.00001
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp) rs1218269439 0.00001
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser) rs769269501 0.00001
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.4722C>A (p.Phe1574Leu) rs1558884200
NM_001330260.2(SCN8A):c.4282-10C>G rs369145855
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)

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