ClinVar Miner

List of variants reported as uncertain significance for idiopathic generalized epilepsy by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.4718G>A (p.Arg1573Gln) rs560884609 0.00003
NM_018100.4(EFHC1):c.730C>T (p.Arg244Ter) rs571448222 0.00002
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val) rs772800839 0.00002
NM_000726.5(CACNB4):c.337G>T (p.Val113Phe) rs886054968
NM_021098.3(CACNA1H):c.4283G>A (p.Arg1428Lys)
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498

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