ClinVar Miner

List of variants studied for idiopathic generalized epilepsy by Cell and Molecular Biology Laboratory, University of the Punjab Lahore

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001348946.2(ABCB1):c.2678C>A (p.Ser893Tyr) rs2117129739
NM_018100.4(EFHC1):c.1365T>C (p.Pro455=) rs1581846971
NM_018100.4(EFHC1):c.723+18_723+19insG rs1581829739

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