ClinVar Miner

List of variants in gene GABRA6 reported as benign for childhood-onset epilepsy syndrome

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000811.3(GABRA6):c.951G>T (p.Ala317=) rs12522663 0.96771
NM_000811.3(GABRA6):c.*135C>T rs3219151 0.50903
NM_000811.3(GABRA6):c.9G>A (p.Ser3=) rs13188991 0.18038
NM_000811.3(GABRA6):c.1210C>T (p.Pro404Ser) rs34907804 0.08568
NM_000811.3(GABRA6):c.560C>T (p.Thr187Met) rs3811993 0.00892
NM_000811.3(GABRA6):c.594C>A (p.Val198=) rs143830239 0.00577
NM_000811.3(GABRA6):c.639A>G (p.Gln213=) rs34826485 0.00427
NM_000811.3(GABRA6):c.805G>A (p.Val269Ile) rs150866100 0.00227
NM_000811.3(GABRA6):c.60A>G (p.Lys20=) rs112717732 0.00096
NM_000811.3(GABRA6):c.1005C>G (p.Ala335=) rs13184586
NM_000811.3(GABRA6):c.1344C>G (p.Val448=) rs4277944

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