ClinVar Miner

List of variants in gene GABRB3 studied for Lennox-Gastaut syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) rs1064794797
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) rs756369937
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe) rs886037939
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) rs769801846
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His)
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys) rs886037940
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr) rs886037941

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