ClinVar Miner

List of variants studied for epilepsy, idiopathic generalized, susceptibility to, 13 by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC rs587777363
NM_001127644.2(GABRA1):c.655G>A (p.Asp219Asn) rs587777364
NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp) rs121434579
NM_001127644.2(GABRA1):c.975del (p.Ser326fs) rs1581220270

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