ClinVar Miner

List of variants studied for idiopathic generalized epilepsy by GenomeConnect, ClinGen

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr) rs59650398 0.01351
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn) rs61056448 0.00086
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953 0.00012
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg) rs1216562585
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)

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