ClinVar Miner

List of variants in gene GABRD reported as uncertain significance for Idiopathic generalized epilepsy

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Gene type:
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Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_000815.5(GABRD):c.470+6C>T rs202225187 0.00034
NM_000815.5(GABRD):c.730C>T (p.Arg244Trp) rs150097692 0.00011
NM_000815.5(GABRD):c.1166G>C (p.Gly389Ala) rs372742962 0.00009
NM_000815.5(GABRD):c.1222C>T (p.Arg408Cys) rs200430448 0.00009
NM_000815.5(GABRD):c.668C>T (p.Thr223Met) rs369511458 0.00008
NM_000815.5(GABRD):c.934G>A (p.Val312Ile) rs774201718 0.00007
NM_000815.5(GABRD):c.1135C>T (p.Arg379Trp) rs754636335 0.00004
NM_000815.5(GABRD):c.7G>T (p.Ala3Ser) rs759523853 0.00004
NM_000815.5(GABRD):c.1154G>A (p.Gly385Glu) rs753657631 0.00003
NM_000815.5(GABRD):c.1343C>T (p.Ala448Val) rs756592609 0.00003
NM_000815.5(GABRD):c.847+5G>A rs1231232821 0.00003
NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser) rs759836961 0.00002
NM_000815.5(GABRD):c.448G>A (p.Gly150Ser) rs781431062 0.00002
NM_000815.5(GABRD):c.1001A>G (p.Asn334Ser) rs764783225 0.00001
NM_000815.5(GABRD):c.1003G>A (p.Ala335Thr) rs758908317 0.00001
NM_000815.5(GABRD):c.1060A>G (p.Met354Val) rs768220667 0.00001
NM_000815.5(GABRD):c.1100C>T (p.Ala367Val) rs1020129541 0.00001
NM_000815.5(GABRD):c.1108G>A (p.Val370Ile) rs1057519556 0.00001
NM_000815.5(GABRD):c.1151C>T (p.Pro384Leu) rs764066786 0.00001
NM_000815.5(GABRD):c.1194_1195del (p.Glu400fs) rs1351197180 0.00001
NM_000815.5(GABRD):c.1223G>A (p.Arg408His) rs901937998 0.00001
NM_000815.5(GABRD):c.1246C>T (p.Arg416Cys) rs370735082 0.00001
NM_000815.5(GABRD):c.1247G>A (p.Arg416His) rs1011029441 0.00001
NM_000815.5(GABRD):c.1270G>A (p.Ala424Thr) rs770260377 0.00001
NM_000815.5(GABRD):c.136G>A (p.Gly46Arg) rs1658879135 0.00001
NM_000815.5(GABRD):c.14C>G (p.Ala5Gly) rs1207791272 0.00001
NM_000815.5(GABRD):c.178G>A (p.Gly60Arg) rs749214783 0.00001
NM_000815.5(GABRD):c.244A>G (p.Asn82Asp) rs770620492 0.00001
NM_000815.5(GABRD):c.263C>T (p.Thr88Met) rs373508468 0.00001
NM_000815.5(GABRD):c.367G>A (p.Asp123Asn) rs1658901832 0.00001
NM_000815.5(GABRD):c.425A>G (p.Lys142Arg) rs1183821856 0.00001
NM_000815.5(GABRD):c.590C>T (p.Ser197Leu) rs750394202 0.00001
NM_000815.5(GABRD):c.65C>T (p.Thr22Ile) rs1658715532 0.00001
NM_000815.5(GABRD):c.68+5G>C rs1571022283 0.00001
NM_000815.5(GABRD):c.71C>T (p.Ala24Val) rs748341188 0.00001
NM_000815.5(GABRD):c.728T>C (p.Leu243Pro) rs1248355743 0.00001
NM_000815.5(GABRD):c.931G>A (p.Asp311Asn) rs1248660340 0.00001
NM_000815.5(GABRD):c.94G>A (p.Val32Met) rs1295769740 0.00001
NM_000815.5(GABRD):c.992C>G (p.Ala331Gly) rs1164930036 0.00001
NC_000001.10:g.(?_1950843)_(1961741_?)dup
NC_000001.11:g.(?_2019404)_(2030302_?)del
NC_000001.11:g.(?_2024922)_(2030302_?)dup
NM_000815.5(GABRD):c.1006G>A (p.Asp336Asn) rs1200416339
NM_000815.5(GABRD):c.1027G>C (p.Ala343Pro) rs749316684
NM_000815.5(GABRD):c.1031A>T (p.Lys344Met) rs1659031445
NM_000815.5(GABRD):c.1035C>G (p.Val345=)
NM_000815.5(GABRD):c.1049C>T (p.Pro350Leu)
NM_000815.5(GABRD):c.104A>G (p.Asn35Ser)
NM_000815.5(GABRD):c.1060-13G>A
NM_000815.5(GABRD):c.1060-3C>A
NM_000815.5(GABRD):c.1065C>G (p.Asp355Glu) rs1031482653
NM_000815.5(GABRD):c.1066G>A (p.Val356Met)
NM_000815.5(GABRD):c.1070G>A (p.Arg357Lys)
NM_000815.5(GABRD):c.1089C>G (p.Phe363Leu) rs1359928378
NM_000815.5(GABRD):c.1097_1098del (p.Ser366fs)
NM_000815.5(GABRD):c.1105G>T (p.Gly369Cys) rs759836961
NM_000815.5(GABRD):c.1112C>T (p.Thr371Met)
NM_000815.5(GABRD):c.1115A>G (p.Gln372Arg) rs1659040935
NM_000815.5(GABRD):c.1133G>T (p.Arg378Leu)
NM_000815.5(GABRD):c.1136G>C (p.Arg379Pro)
NM_000815.5(GABRD):c.1141C>T (p.Arg381Cys) rs773818258
NM_000815.5(GABRD):c.1142G>A (p.Arg381His)
NM_000815.5(GABRD):c.1144C>T (p.Arg382Cys) rs1434291863
NM_000815.5(GABRD):c.1145G>A (p.Arg382His)
NM_000815.5(GABRD):c.1147G>A (p.Val383Ile)
NM_000815.5(GABRD):c.1160T>A (p.Leu387Gln)
NM_000815.5(GABRD):c.1174A>G (p.Arg392Gly) rs1553123940
NM_000815.5(GABRD):c.1183G>C (p.Gly395Arg) rs763081509
NM_000815.5(GABRD):c.1186G>T (p.Val396Leu)
NM_000815.5(GABRD):c.1195G>A (p.Gly399Arg) rs1571033517
NM_000815.5(GABRD):c.1202C>G (p.Thr401Arg) rs116604393
NM_000815.5(GABRD):c.1214G>T (p.Gly405Val)
NM_000815.5(GABRD):c.1233C>T (p.Gly411=) rs1052967348
NM_000815.5(GABRD):c.1241G>A (p.Gly414Asp)
NM_000815.5(GABRD):c.1247G>C (p.Arg416Pro) rs1011029441
NM_000815.5(GABRD):c.1264A>G (p.Ile422Val)
NM_000815.5(GABRD):c.1273G>A (p.Asp425Asn) rs1380198645
NM_000815.5(GABRD):c.1294C>G (p.Arg432Gly) rs1002172902
NM_000815.5(GABRD):c.1294C>T (p.Arg432Cys) rs1002172902
NM_000815.5(GABRD):c.1295G>A (p.Arg432His)
NM_000815.5(GABRD):c.1300G>A (p.Val434Met)
NM_000815.5(GABRD):c.1307C>T (p.Pro436Leu)
NM_000815.5(GABRD):c.1310C>T (p.Ala437Val)
NM_000815.5(GABRD):c.1319C>T (p.Ala440Val) rs866487320
NM_000815.5(GABRD):c.1320G>A (p.Ala440=)
NM_000815.5(GABRD):c.1324G>A (p.Val442Ile) rs756881793
NM_000815.5(GABRD):c.1330G>A (p.Val444Ile) rs1659053261
NM_000815.5(GABRD):c.1345G>T (p.Ala449Ser)
NM_000815.5(GABRD):c.137G>A (p.Gly46Glu) rs1441811312
NM_000815.5(GABRD):c.14C>T (p.Ala5Val)
NM_000815.5(GABRD):c.154G>T (p.Ala52Ser)
NM_000815.5(GABRD):c.16C>G (p.Arg6Gly) rs1658714306
NM_000815.5(GABRD):c.173G>A (p.Gly58Asp)
NM_000815.5(GABRD):c.187C>G (p.Pro63Ala)
NM_000815.5(GABRD):c.195T>A (p.Asn65Lys)
NM_000815.5(GABRD):c.202C>A (p.Leu68Ile) rs1658892135
NM_000815.5(GABRD):c.232A>G (p.Ile78Val)
NM_000815.5(GABRD):c.250-1G>A
NM_000815.5(GABRD):c.332T>G (p.Leu111Arg) rs2102147878
NM_000815.5(GABRD):c.340C>T (p.Arg114Cys) rs1373382584
NM_000815.5(GABRD):c.379G>A (p.Val127Met) rs562124721
NM_000815.5(GABRD):c.389A>C (p.Lys130Thr)
NM_000815.5(GABRD):c.392C>T (p.Ser131Leu) rs201306411
NM_000815.5(GABRD):c.406G>A (p.Asp136Asn) rs1420010820
NM_000815.5(GABRD):c.430_432dup (p.Ile144_Arg145insIle)
NM_000815.5(GABRD):c.479C>T (p.Ser160Phe) rs2102150266
NM_000815.5(GABRD):c.49C>A (p.Gln17Lys)
NM_000815.5(GABRD):c.523G>A (p.Glu175Lys) rs1658963820
NM_000815.5(GABRD):c.553+20G>A
NM_000815.5(GABRD):c.556G>A (p.Gly186Ser)
NM_000815.5(GABRD):c.56T>G (p.Leu19Arg)
NM_000815.5(GABRD):c.574A>G (p.Ile192Val) rs766753329
NM_000815.5(GABRD):c.591G>A (p.Ser197=) rs756079485
NM_000815.5(GABRD):c.59G>A (p.Arg20His)
NM_000815.5(GABRD):c.604C>G (p.His202Asp)
NM_000815.5(GABRD):c.61G>A (p.Gly21Ser) rs1214046618
NM_000815.5(GABRD):c.638A>G (p.Gln213Arg) rs1557447332
NM_000815.5(GABRD):c.649A>T (p.Thr217Ser) rs1658982650
NM_000815.5(GABRD):c.64A>G (p.Thr22Ala)
NM_000815.5(GABRD):c.651dup (p.Ser218fs) rs2102151065
NM_000815.5(GABRD):c.664A>G (p.Thr222Ala)
NM_000815.5(GABRD):c.67A>G (p.Arg23Gly)
NM_000815.5(GABRD):c.69-6C>A
NM_000815.5(GABRD):c.696C>T (p.Gly232=) rs144046110
NM_000815.5(GABRD):c.718C>T (p.His240Tyr) rs1659011884
NM_000815.5(GABRD):c.731G>A (p.Arg244Gln)
NM_000815.5(GABRD):c.733A>G (p.Arg245Gly)
NM_000815.5(GABRD):c.739C>T (p.Arg247Cys)
NM_000815.5(GABRD):c.751ATC[1] (p.Ile252del) rs1201664324
NM_000815.5(GABRD):c.758A>T (p.Gln253Leu)
NM_000815.5(GABRD):c.766A>G (p.Met256Val)
NM_000815.5(GABRD):c.770C>T (p.Pro257Leu)
NM_000815.5(GABRD):c.818A>G (p.Gln273Arg)
NM_000815.5(GABRD):c.819G>C (p.Gln273His) rs1659015905
NM_000815.5(GABRD):c.821C>T (p.Ala274Val) rs749733672
NM_000815.5(GABRD):c.823G>A (p.Ala275Thr)
NM_000815.5(GABRD):c.847+4C>T
NM_000815.5(GABRD):c.848-5G>A
NM_000815.5(GABRD):c.848-9G>A rs1659025020
NM_000815.5(GABRD):c.869_871del (p.Met290del)
NM_000815.5(GABRD):c.88G>A (p.Asp30Asn) rs74786356
NM_000815.5(GABRD):c.896C>T (p.Ser299Phe)
NM_000815.5(GABRD):c.907C>T (p.Arg303Trp)
NM_000815.5(GABRD):c.968C>T (p.Ala323Val)
NM_000815.5(GABRD):c.969C>A (p.Ala323=) rs146381127
NM_000815.5(GABRD):c.985G>A (p.Ala329Thr)

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