ClinVar Miner

List of variants in gene GABRA1 reported as pathogenic for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000806.5(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_000806.5(GABRA1):c.751G>A (p.Gly251Ser) rs587777307
NM_000806.5(GABRA1):c.902G>A (p.Arg301Lys) rs863225292
NM_000806.5(GABRA1):c.917A>C (p.Lys306Thr) rs587777309
NM_001127644.2(GABRA1):c.1200del (p.Lys401fs) rs879253748

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