ClinVar Miner

List of variants reported as uncertain significance for generalized epilepsy with febrile seizures plus, type 2 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360 0.00004
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.3686T>C (p.Leu1229Pro) rs1692861040
NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln) rs1691045272
NM_001165963.4(SCN1A):c.4417T>C (p.Phe1473Leu) rs1690331351
NM_001165963.4(SCN1A):c.4489G>A (p.Asp1497Asn) rs2105462657
NM_001165963.4(SCN1A):c.4795T>G (p.Tyr1599Asp) rs1689679432
NM_001165963.4(SCN1A):c.5594T>C (p.Leu1865Pro) rs2105425720
NM_001165963.4(SCN1A):c.5653C>G (p.Leu1885Val) rs1689164800
NM_001165963.4(SCN1A):c.5691T>G (p.Asn1897Lys) rs1689157351

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