ClinVar Miner

List of variants reported as likely pathogenic for genetic generalized epilepsy by Department of Neurology, Zibo Changguo Hospital

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1037C>A (p.Pro346Gln)
NM_001165963.4(SCN1A):c.2357C>T (p.Ala786Val)
NM_001165963.4(SCN1A):c.4576C>A (p.Pro1526Thr)
NM_001165963.4(SCN1A):c.5116_5117del (p.Asn1706fs)
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp) rs760906812
NM_001165963.4(SCN1A):c.751A>G (p.Met251Val) rs2105890375
NM_198904.4(GABRG2):c.1217_1218del (p.Gln406fs) rs1554101202
NM_198904.4(GABRG2):c.434T>A (p.Ile145Asn)

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