ClinVar Miner

List of variants reported as likely pathogenic for hereditary generalized epilepsy by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp) rs796053043 0.00001
NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe) rs121917913
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser) rs1689271992
NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser)
NM_198904.4(GABRG2):c.259+5G>T rs2113298784

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