ClinVar Miner

List of variants reported as likely benign for Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) rs113886269 0.00087
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862 0.00028
NM_001127644.2(GABRA1):c.886T>C (p.Leu296=) rs149677108 0.00021
NM_001127644.2(GABRA1):c.704-17T>G rs115043829 0.00015
NM_001127644.2(GABRA1):c.231C>T (p.Phe77=) rs566224462 0.00013
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His) rs80337021 0.00012
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425 0.00008
NM_001127644.2(GABRA1):c.846A>G (p.Arg282=) rs139467768 0.00007
NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=) rs74873701 0.00005
NM_001127644.2(GABRA1):c.216C>T (p.Ile72=) rs200716712 0.00004
NM_001127644.2(GABRA1):c.476+16C>T rs780581747 0.00004
NM_001127644.2(GABRA1):c.59C>T (p.Thr20Ile) rs756553428 0.00004
NM_001127644.2(GABRA1):c.840A>G (p.Pro280=) rs150497014 0.00004
NM_001127644.2(GABRA1):c.857-20del rs766979006 0.00004
NM_001127644.2(GABRA1):c.873C>T (p.Leu291=) rs777911034 0.00004
NM_001127644.2(GABRA1):c.966C>T (p.Ala322=) rs201133616 0.00004
NM_001127644.2(GABRA1):c.1218A>G (p.Pro406=) rs371392768 0.00003
NM_001127644.2(GABRA1):c.384C>T (p.Phe128=) rs1219475284 0.00003
NM_001127644.2(GABRA1):c.390T>C (p.Asn130=) rs778019249 0.00003
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=) rs587780947 0.00003
NM_001127644.2(GABRA1):c.756C>T (p.Tyr252=) rs775895535 0.00003
NM_001127644.2(GABRA1):c.834T>C (p.Ser278=) rs749956729 0.00003
NM_001127644.2(GABRA1):c.93A>C (p.Leu31Phe) rs747927213 0.00003
NM_001127644.2(GABRA1):c.1008T>C (p.Tyr336=) rs200228901 0.00002
NM_001127644.2(GABRA1):c.1261C>A (p.Arg421=) rs756295089 0.00002
NM_001127644.2(GABRA1):c.1360C>T (p.Pro454Ser) rs773012684 0.00002
NM_001127644.2(GABRA1):c.198C>T (p.Thr66=) rs770208588 0.00002
NM_001127644.2(GABRA1):c.237C>T (p.Pro79=) rs536603724 0.00002
NM_001127644.2(GABRA1):c.297T>C (p.Asp99=) rs750394365 0.00002
NM_001127644.2(GABRA1):c.33T>C (p.Leu11=) rs766418049 0.00002
NM_001127644.2(GABRA1):c.429C>T (p.Asn143=) rs772653297 0.00002
NM_001127644.2(GABRA1):c.477-14A>G rs757378039 0.00002
NM_001127644.2(GABRA1):c.74+13T>A rs1372415306 0.00002
NM_001127644.2(GABRA1):c.1026T>C (p.Tyr342=) rs750925935 0.00001
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met) rs1755340949 0.00001
NM_001127644.2(GABRA1):c.1104C>T (p.Tyr368=) rs771832995 0.00001
NM_001127644.2(GABRA1):c.1151C>T (p.Pro384Leu) rs755336024 0.00001
NM_001127644.2(GABRA1):c.1152G>A (p.Pro384=) rs777957860 0.00001
NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val) rs771316858 0.00001
NM_001127644.2(GABRA1):c.1179A>C (p.Ala393=) rs779528536 0.00001
NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=) rs541335259 0.00001
NM_001127644.2(GABRA1):c.1251C>T (p.Ser417=) rs1439460739 0.00001
NM_001127644.2(GABRA1):c.219C>T (p.Phe73=) rs1436904885 0.00001
NM_001127644.2(GABRA1):c.256-9A>T rs1325544924 0.00001
NM_001127644.2(GABRA1):c.288C>T (p.Ser96=) rs534779853 0.00001
NM_001127644.2(GABRA1):c.32T>C (p.Leu11Pro) rs762939760 0.00001
NM_001127644.2(GABRA1):c.346C>T (p.Leu116=) rs1048661957 0.00001
NM_001127644.2(GABRA1):c.372G>A (p.Pro124=) rs1378731581 0.00001
NM_001127644.2(GABRA1):c.378A>G (p.Thr126=) rs756299135 0.00001
NM_001127644.2(GABRA1):c.408C>T (p.Ala136=) rs771269673 0.00001
NM_001127644.2(GABRA1):c.435C>G (p.Leu145=) rs1345523666 0.00001
NM_001127644.2(GABRA1):c.459C>T (p.Thr153=) rs761693717 0.00001
NM_001127644.2(GABRA1):c.463C>T (p.Leu155=) rs2532239778 0.00001
NM_001127644.2(GABRA1):c.476+13G>A rs758229064 0.00001
NM_001127644.2(GABRA1):c.476+17T>C rs752753999 0.00001
NM_001127644.2(GABRA1):c.477-5T>C rs779231183 0.00001
NM_001127644.2(GABRA1):c.478C>T (p.Leu160=) rs1269683161 0.00001
NM_001127644.2(GABRA1):c.522T>A (p.Pro174=) rs1216592199 0.00001
NM_001127644.2(GABRA1):c.531C>T (p.Ala177=) rs747452052 0.00001
NM_001127644.2(GABRA1):c.559+15A>G rs1158989604 0.00001
NM_001127644.2(GABRA1):c.559+16T>C rs759425091 0.00001
NM_001127644.2(GABRA1):c.560-13T>C rs2113414291 0.00001
NM_001127644.2(GABRA1):c.576A>T (p.Ala192=) rs1319609279 0.00001
NM_001127644.2(GABRA1):c.703+18A>G rs773303293 0.00001
NM_001127644.2(GABRA1):c.704-18G>A rs758058259 0.00001
NM_001127644.2(GABRA1):c.74+10C>G rs557887445 0.00001
NM_001127644.2(GABRA1):c.75-11T>C rs765763751 0.00001
NM_001127644.2(GABRA1):c.75-7T>C rs749903817 0.00001
NM_001127644.2(GABRA1):c.753C>T (p.Gly251=) rs2113446431 0.00001
NM_001127644.2(GABRA1):c.78T>C (p.Tyr26=) rs779666888 0.00001
NM_001127644.2(GABRA1):c.856+11A>G rs564871157 0.00001
NM_001127644.2(GABRA1):c.857-5T>C rs543710675 0.00001
NM_001127644.2(GABRA1):c.87G>A (p.Pro29=) rs374399356 0.00001
NM_001127644.2(GABRA1):c.927T>C (p.Tyr309=) rs997561187 0.00001
NM_001127644.2(GABRA1):c.972G>T (p.Val324=) rs145617915 0.00001
NM_001127644.2(GABRA1):c.999A>T (p.Thr333=) rs748550764 0.00001
NM_001127644.2(GABRA1):c.1020A>G (p.Arg340=) rs1561587910
NM_001127644.2(GABRA1):c.1029A>G (p.Ala343=) rs1304537393
NM_001127644.2(GABRA1):c.1059+14T>C rs2532292534
NM_001127644.2(GABRA1):c.1059+7G>A rs1755341466
NM_001127644.2(GABRA1):c.1059+8C>A rs758699164
NM_001127644.2(GABRA1):c.1059+8C>G
NM_001127644.2(GABRA1):c.1060-10del rs1581221506
NM_001127644.2(GABRA1):c.1060-14C>T rs1755401207
NM_001127644.2(GABRA1):c.1065G>A (p.Lys355=) rs1554087785
NM_001127644.2(GABRA1):c.1068A>G (p.Lys356=) rs2532295509
NM_001127644.2(GABRA1):c.1146C>A (p.Gly382=) rs79593368
NM_001127644.2(GABRA1):c.1164C>T (p.Thr388=)
NM_001127644.2(GABRA1):c.1191T>C (p.Pro397=)
NM_001127644.2(GABRA1):c.1206C>A (p.Pro402=) rs541335259
NM_001127644.2(GABRA1):c.1212A>G (p.Thr404=) rs776260370
NM_001127644.2(GABRA1):c.1239T>C (p.Phe413=) rs2113470244
NM_001127644.2(GABRA1):c.1257T>C (p.Ile419=) rs1755413332
NM_001127644.2(GABRA1):c.1260C>T (p.Asp420=) rs760920254
NM_001127644.2(GABRA1):c.1263A>T (p.Arg421=) rs1581221881
NM_001127644.2(GABRA1):c.1264C>T (p.Leu422=) rs754135872
NM_001127644.2(GABRA1):c.1288C>T (p.Leu430=) rs1237838684
NM_001127644.2(GABRA1):c.1305C>T (p.Asn435=)
NM_001127644.2(GABRA1):c.1329A>G (p.Leu443=) rs2113470613
NM_001127644.2(GABRA1):c.1347A>G (p.Leu449=) rs746560774
NM_001127644.2(GABRA1):c.1365T>C (p.His455=) rs1337227873
NM_001127644.2(GABRA1):c.147C>A (p.Leu49=) rs2113307246
NM_001127644.2(GABRA1):c.148C>T (p.Leu50=) rs2113307265
NM_001127644.2(GABRA1):c.150A>G (p.Leu50=) rs1006797468
NM_001127644.2(GABRA1):c.153T>C (p.Asp51=) rs2532205050
NM_001127644.2(GABRA1):c.187+16G>T rs1554084016
NM_001127644.2(GABRA1):c.187+5G>T rs368360804
NM_001127644.2(GABRA1):c.187+8G>A rs2532205137
NM_001127644.2(GABRA1):c.188-12C>G rs1486507520
NM_001127644.2(GABRA1):c.188-14T>C rs2532225414
NM_001127644.2(GABRA1):c.188-15T>A rs2532225403
NM_001127644.2(GABRA1):c.188-19C>T rs1339601818
NM_001127644.2(GABRA1):c.188-9C>A rs2532225429
NM_001127644.2(GABRA1):c.18T>C (p.Gly6=)
NM_001127644.2(GABRA1):c.197C>A (p.Thr66Asn) rs2113354062
NM_001127644.2(GABRA1):c.201A>G (p.Glu67=) rs766903604
NM_001127644.2(GABRA1):c.216C>A (p.Ile72=) rs200716712
NM_001127644.2(GABRA1):c.225C>G (p.Thr75=)
NM_001127644.2(GABRA1):c.255+10C>A rs1753811057
NM_001127644.2(GABRA1):c.255+12C>G
NM_001127644.2(GABRA1):c.255+14_255+15del
NM_001127644.2(GABRA1):c.255+8G>A rs753705666
NM_001127644.2(GABRA1):c.255+9A>T rs1207742446
NM_001127644.2(GABRA1):c.256-19A>G
NM_001127644.2(GABRA1):c.256-4C>T rs2113380786
NM_001127644.2(GABRA1):c.258A>G (p.Glu86=) rs1754195946
NM_001127644.2(GABRA1):c.261T>C (p.Tyr87=) rs1057523723
NM_001127644.2(GABRA1):c.303G>A (p.Arg101=) rs758360317
NM_001127644.2(GABRA1):c.321T>A (p.Pro107=) rs932397983
NM_001127644.2(GABRA1):c.333C>A (p.Leu111=) rs2532239349
NM_001127644.2(GABRA1):c.348A>G (p.Leu116=) rs1233872919
NM_001127644.2(GABRA1):c.396G>A (p.Lys132=) rs2532239515
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=) rs1581175017
NM_001127644.2(GABRA1):c.439C>A (p.Arg147=) rs139163545
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp) rs139163545
NM_001127644.2(GABRA1):c.447A>G (p.Thr149=)
NM_001127644.2(GABRA1):c.453T>C (p.Asp151=) rs1308271547
NM_001127644.2(GABRA1):c.476+14C>T rs1180737693
NM_001127644.2(GABRA1):c.476+19C>T rs1057522828
NM_001127644.2(GABRA1):c.477-14_477-13del rs771228034
NM_001127644.2(GABRA1):c.477-15T>C
NM_001127644.2(GABRA1):c.477-7C>T rs2532244393
NM_001127644.2(GABRA1):c.48C>T (p.Leu16=) rs1554083720
NM_001127644.2(GABRA1):c.513G>A (p.Glu171=) rs1437514452
NM_001127644.2(GABRA1):c.537T>C (p.Ala179=) rs945438671
NM_001127644.2(GABRA1):c.559+18G>A rs767478000
NM_001127644.2(GABRA1):c.559+19A>G rs1554085838
NM_001127644.2(GABRA1):c.559+20C>T rs2113389380
NM_001127644.2(GABRA1):c.560-12G>C rs2113414298
NM_001127644.2(GABRA1):c.560-15A>G
NM_001127644.2(GABRA1):c.560-9T>C rs1581207011
NM_001127644.2(GABRA1):c.560-9del rs1230461981
NM_001127644.2(GABRA1):c.576A>G (p.Ala192=) rs1319609279
NM_001127644.2(GABRA1):c.612C>G (p.Arg204=) rs374616425
NM_001127644.2(GABRA1):c.624A>G (p.Val208=) rs2532261829
NM_001127644.2(GABRA1):c.627A>G (p.Ala209=) rs2532261844
NM_001127644.2(GABRA1):c.651G>A (p.Gln217=) rs2532261920
NM_001127644.2(GABRA1):c.703+8C>A rs376693195
NM_001127644.2(GABRA1):c.703+8C>T rs376693195
NM_001127644.2(GABRA1):c.703+9G>A rs768499906
NM_001127644.2(GABRA1):c.704-14G>A
NM_001127644.2(GABRA1):c.708A>G (p.Glu236=) rs1755059942
NM_001127644.2(GABRA1):c.723C>A (p.Thr241=) rs2113446356
NM_001127644.2(GABRA1):c.729T>C (p.His243=) rs772218052
NM_001127644.2(GABRA1):c.732C>T (p.Phe244=) rs1581215256
NM_001127644.2(GABRA1):c.74+10C>T rs557887445
NM_001127644.2(GABRA1):c.74+16T>A rs778424701
NM_001127644.2(GABRA1):c.74+9A>C rs41275339
NM_001127644.2(GABRA1):c.75-13T>C rs1232863591
NM_001127644.2(GABRA1):c.75-14_75-13del rs2532204730
NM_001127644.2(GABRA1):c.75-17T>G rs1328079272
NM_001127644.2(GABRA1):c.75-18C>A
NM_001127644.2(GABRA1):c.75-18C>G rs2532204718
NM_001127644.2(GABRA1):c.75-8T>G rs2532204774
NM_001127644.2(GABRA1):c.768A>G (p.Gln256=) rs1435641090
NM_001127644.2(GABRA1):c.775C>T (p.Leu259=) rs2532280356
NM_001127644.2(GABRA1):c.816C>T (p.Phe272=)
NM_001127644.2(GABRA1):c.822C>T (p.Leu274=)
NM_001127644.2(GABRA1):c.834T>G (p.Ser278=) rs749956729
NM_001127644.2(GABRA1):c.84G>A (p.Gln28=)
NM_001127644.2(GABRA1):c.856+8C>T rs1554087151
NM_001127644.2(GABRA1):c.857-10T>A rs2113464132
NM_001127644.2(GABRA1):c.857-18T>A rs78782356
NM_001127644.2(GABRA1):c.857-8C>T rs752572964
NM_001127644.2(GABRA1):c.867T>A (p.Thr289=) rs2532291904
NM_001127644.2(GABRA1):c.885A>G (p.Thr295=)
NM_001127644.2(GABRA1):c.906C>T (p.Asn302=) rs2532292037
NM_001127644.2(GABRA1):c.950T>C (p.Ile317Thr) rs1755335825
NM_001127644.2(GABRA1):c.978A>G (p.Ser326=) rs2532292266

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