ClinVar Miner

List of variants studied for benign partial infantile seizures by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp) rs1352614116 0.00001
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831 0.00001
NM_001040142.2(SCN2A):c.2636G>T (p.Gly879Val) rs1559376694
NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs) rs1701138696
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4579T>G (p.Phe1527Val)
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser) rs1064796691
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys) rs1942829767
NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val) rs1565917697
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met) rs1942911383
NM_001330260.2(SCN8A):c.5499T>A (p.Asp1833Glu) rs1198058104
NM_014191.4(SCN8A):c.652G>T (p.Ala218Ser) rs2138716131
NM_145239.3(PRRT2):c.341_342del (p.Val114fs) rs1900077598
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.793C>A (p.Pro265Thr) rs1900112848
NM_145239.3(PRRT2):c.914G>A (p.Gly305Glu)
NM_145239.3(PRRT2):c.986T>A (p.Ile329Asn) rs1900143158

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