ClinVar Miner

List of variants in gene GABRD reported as benign for genetic generalized epilepsy

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000815.5(GABRD):c.69-19G>A rs2376805 0.81443
NM_000815.5(GABRD):c.330T>C (p.Gly110=) rs2229110 0.66530
NM_000815.5(GABRD):c.1060-14C>T rs28431879 0.11669
NM_000815.5(GABRD):c.816C>T (p.Ser272=) rs28408173 0.11662
NM_000815.5(GABRD):c.1104C>T (p.Ala368=) rs28398772 0.02739
NM_000815.5(GABRD):c.659G>A (p.Arg220His) rs41307846 0.01721
NM_000815.5(GABRD):c.1202C>T (p.Thr401Met) rs116604393 0.00685
NM_000815.5(GABRD):c.414G>A (p.Thr138=) rs77892827 0.00480
NM_000815.5(GABRD):c.405C>T (p.His135=) rs61742636 0.00262
NM_000815.5(GABRD):c.1002C>T (p.Asn334=) rs41315330 0.00194
NM_000815.5(GABRD):c.470+20G>A rs372728395 0.00124
NM_000815.5(GABRD):c.68+18G>A rs952639317 0.00122
NM_000815.5(GABRD):c.1107C>A (p.Gly369=) rs148300882 0.00115
NM_000815.5(GABRD):c.87C>T (p.Gly29=) rs79685811 0.00109
NM_000815.5(GABRD):c.831C>T (p.Pro277=) rs148120771 0.00107
NM_000815.5(GABRD):c.264G>A (p.Thr88=) rs200593470 0.00026
NM_000815.5(GABRD):c.555C>T (p.Tyr185=) rs201112862 0.00017
NM_000815.5(GABRD):c.747G>C (p.Val249=) rs199993714 0.00006
NM_000815.5(GABRD):c.777C>T (p.Val259=) rs553793272 0.00001
NM_000815.5(GABRD):c.972C>G (p.Ala324=) rs368765147 0.00001

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