ClinVar Miner

List of variants studied for idiopathic generalized epilepsy by MGZ Medical Genetics Center

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln) rs377732929 0.00008
NM_018100.4(EFHC1):c.583G>C (p.Glu195Gln)
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)

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