ClinVar Miner

List of variants reported as benign for Idiopathic generalized epilepsy

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Total variants: 64
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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_018723.4(RBFOX1):c.-64+166491C>A rs7187508 0.62707
NM_001350451.2(RBFOX3):c.622+6A>G rs58352742 0.42513
NM_001350451.2(RBFOX3):c.568+17C>T rs11651975 0.26012
NM_001350451.2(RBFOX3):c.66C>T (p.Tyr22=) rs80198744 0.18638
NM_000815.5(GABRD):c.1060-14C>T rs28431879 0.11669
NM_000815.5(GABRD):c.816C>T (p.Ser272=) rs28408173 0.11662
NM_018723.4(RBFOX1):c.931-19A>G rs2302213 0.10758
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_018723.4(RBFOX1):c.126G>A (p.Thr42=) rs17143930 0.03708
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_018723.4(RBFOX1):c.1071+3G>A rs79369633 0.01704
NM_000726.5(CACNB4):c.1116+18T>C rs115324887 0.01581
NM_018723.4(RBFOX1):c.333A>G (p.Glu111=) rs140174146 0.00959
NM_000815.5(GABRD):c.1202C>T (p.Thr401Met) rs116604393 0.00685
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_001350451.2(RBFOX3):c.998+9G>T rs79080598 0.00519
NM_000815.5(GABRD):c.414G>A (p.Thr138=) rs77892827 0.00480
NM_018723.4(RBFOX1):c.137C>A (p.Pro46His) rs113298071 0.00341
NM_001350451.2(RBFOX3):c.360+16C>T rs550827396 0.00312
NM_000815.5(GABRD):c.405C>T (p.His135=) rs61742636 0.00262
NM_001350451.2(RBFOX3):c.321C>T (p.Pro107=) rs150282906 0.00254
NM_000726.5(CACNB4):c.655A>G (p.Met219Val) rs201870832 0.00239
NM_000815.5(GABRD):c.1002C>T (p.Asn334=) rs41315330 0.00194
NM_000726.5(CACNB4):c.324C>T (p.Asp108=) rs147647355 0.00173
NM_018723.4(RBFOX1):c.282C>T (p.Asp94=) rs145861898 0.00171
NM_001350451.2(RBFOX3):c.623-4G>T rs547643968 0.00164
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
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_000726.5(CACNB4):c.792T>C (p.Ser264=) rs139448267 0.00110
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_001350451.2(RBFOX3):c.552G>T (p.Gly184=) rs375171072 0.00060
NM_018723.4(RBFOX1):c.96C>G (p.Pro32=) rs143695164 0.00052
NM_018723.4(RBFOX1):c.270+10C>G rs113881725 0.00051
NM_001350451.2(RBFOX3):c.960C>T (p.Tyr320=) rs539897924 0.00038
NM_018723.4(RBFOX1):c.264C>T (p.Thr88=) rs202136920 0.00038
NM_018723.4(RBFOX1):c.144C>T (p.Pro48=) rs61742359 0.00027
NM_000815.5(GABRD):c.264G>A (p.Thr88=) rs200593470 0.00026
NM_018723.4(RBFOX1):c.70C>T (p.Pro24Ser) rs148751394 0.00026
NM_000815.5(GABRD):c.555C>T (p.Tyr185=) rs201112862 0.00017
NM_145893.3(RBFOX1):c.57G>A (p.Pro19=) rs147261087 0.00016
NM_018723.4(RBFOX1):c.708G>A (p.Glu236=) rs368113568 0.00009
NM_000815.5(GABRD):c.747G>C (p.Val249=) rs199993714 0.00006
NM_018723.4(RBFOX1):c.1032C>T (p.His344=) rs534312610 0.00006
NM_018723.4(RBFOX1):c.996-19A>C rs200846246 0.00006
NM_018723.4(RBFOX1):c.354G>A (p.Arg118=) rs200053144 0.00004
NM_001350451.2(RBFOX3):c.10C>A (p.Pro4Thr) rs368372440 0.00002
NM_000815.5(GABRD):c.777C>T (p.Val259=) rs553793272 0.00001
NM_000815.5(GABRD):c.972C>G (p.Ala324=) rs368765147 0.00001
NM_001350451.2(RBFOX3):c.641C>A (p.Pro214His) rs370372079 0.00001
NM_000726.5(CACNB4):c.222A>T (p.Arg74=) rs553682728
NM_001350451.2(RBFOX3):c.622+3dup rs1351338220
NM_001350451.2(RBFOX3):c.936+15G>A rs377444179
NM_018723.4(RBFOX1):c.28-11del
NM_018723.4(RBFOX1):c.758-4G>T rs112339093
NM_018723.4(RBFOX1):c.758-5C>T rs368263619
NM_018723.4(RBFOX1):c.879G>A (p.Pro293=) rs200006523
NM_018723.4(RBFOX1):c.879G>C (p.Pro293=) rs200006523

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