ClinVar Miner

List of variants reported as likely pathogenic for epilepsy by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001161352.2(KCNMA1):c.1054A>G (p.Thr352Ala) rs863224885
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]
NM_014795.4(ZEB2):c.2180del (p.Leu727fs) rs786204810
NM_014795.4(ZEB2):c.2932G>T (p.Asp978Tyr) rs863224942
NM_020705.2(TBC1D24):c.[1218G>C];[1270T>C]

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