ClinVar Miner

List of variants in gene GABRA1 reported as likely benign for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 194
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.*937C>A rs41315924 0.03642
NM_001127644.2(GABRA1):c.-53C>A rs75583203 0.01969
NM_000806.5(GABRA1):c.-446G>C rs28364635 0.00203
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.231C>T (p.Phe77=) rs566224462 0.00015
NM_001127644.2(GABRA1):c.704-17T>G rs115043829 0.00015
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 0.00011
NM_001127644.2(GABRA1):c.846A>G (p.Arg282=) rs139467768 0.00007
NM_001127644.2(GABRA1):c.1218A>G (p.Pro406=) rs371392768 0.00004
NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=) rs74873701 0.00004
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.873C>T (p.Leu291=) rs777911034 0.00004
NM_001127644.2(GABRA1):c.966C>T (p.Ala322=) rs201133616 0.00004
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.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.1151C>T (p.Pro384Leu) rs755336024 0.00002
NM_001127644.2(GABRA1):c.1261C>A (p.Arg421=) rs756295089 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.477-14A>G rs757378039 0.00002
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=) rs587780947 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.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.219C>T (p.Phe73=) rs1436904885 0.00001
NM_001127644.2(GABRA1):c.256-9A>T rs1325544924 0.00001
NM_001127644.2(GABRA1):c.32T>C (p.Leu11Pro) rs762939760 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.459C>T (p.Thr153=) rs761693717 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.531C>T (p.Ala177=) rs747452052 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.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.972G>T (p.Val324=) rs145617915 0.00001
NM_001127644.2(GABRA1):c.1008T>C (p.Tyr336=)
NM_001127644.2(GABRA1):c.1020A>G (p.Arg340=)
NM_001127644.2(GABRA1):c.1029A>G (p.Ala343=) rs1304537393
NM_001127644.2(GABRA1):c.1059+14T>C
NM_001127644.2(GABRA1):c.1059+7G>A
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=)
NM_001127644.2(GABRA1):c.1146C>A (p.Gly382=)
NM_001127644.2(GABRA1):c.1152G>A (p.Pro384=) rs777957860
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=)
NM_001127644.2(GABRA1):c.1212A>G (p.Thr404=)
NM_001127644.2(GABRA1):c.1239T>C (p.Phe413=) rs2113470244
NM_001127644.2(GABRA1):c.1251C>T (p.Ser417=)
NM_001127644.2(GABRA1):c.1257T>C (p.Ile419=) rs1755413332
NM_001127644.2(GABRA1):c.1260C>T (p.Asp420=)
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=)
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=)
NM_001127644.2(GABRA1):c.1360C>T (p.Pro454Ser)
NM_001127644.2(GABRA1):c.1365T>C (p.His455=)
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=)
NM_001127644.2(GABRA1):c.187+16G>T
NM_001127644.2(GABRA1):c.187+5G>T rs368360804
NM_001127644.2(GABRA1):c.187+8G>A
NM_001127644.2(GABRA1):c.188-12C>G
NM_001127644.2(GABRA1):c.188-14T>C
NM_001127644.2(GABRA1):c.188-15T>A
NM_001127644.2(GABRA1):c.188-19C>T
NM_001127644.2(GABRA1):c.188-9C>A
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=)
NM_001127644.2(GABRA1):c.225C>G (p.Thr75=)
NM_001127644.2(GABRA1):c.255+10C>A
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
NM_001127644.2(GABRA1):c.255+9A>T
NM_001127644.2(GABRA1):c.256-19A>G
NM_001127644.2(GABRA1):c.256-4C>T
NM_001127644.2(GABRA1):c.258A>G (p.Glu86=)
NM_001127644.2(GABRA1):c.261T>C (p.Tyr87=) rs1057523723
NM_001127644.2(GABRA1):c.288C>T (p.Ser96=)
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=)
NM_001127644.2(GABRA1):c.346C>T (p.Leu116=) rs1048661957
NM_001127644.2(GABRA1):c.348A>G (p.Leu116=) rs1233872919
NM_001127644.2(GABRA1):c.396G>A (p.Lys132=)
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=) rs1581175017
NM_001127644.2(GABRA1):c.429C>T (p.Asn143=)
NM_001127644.2(GABRA1):c.435C>G (p.Leu145=)
NM_001127644.2(GABRA1):c.439C>A (p.Arg147=)
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.463C>T (p.Leu155=)
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
NM_001127644.2(GABRA1):c.477-15T>C
NM_001127644.2(GABRA1):c.477-7C>T
NM_001127644.2(GABRA1):c.48C>T (p.Leu16=) rs1554083720
NM_001127644.2(GABRA1):c.513G>A (p.Glu171=)
NM_001127644.2(GABRA1):c.522T>A (p.Pro174=)
NM_001127644.2(GABRA1):c.537T>C (p.Ala179=) rs945438671
NM_001127644.2(GABRA1):c.559+15A>G
NM_001127644.2(GABRA1):c.559+16T>C
NM_001127644.2(GABRA1):c.559+18G>A
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
NM_001127644.2(GABRA1):c.560-13T>C rs2113414291
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.576A>T (p.Ala192=)
NM_001127644.2(GABRA1):c.612C>G (p.Arg204=)
NM_001127644.2(GABRA1):c.624A>G (p.Val208=)
NM_001127644.2(GABRA1):c.627A>G (p.Ala209=)
NM_001127644.2(GABRA1):c.651G>A (p.Gln217=)
NM_001127644.2(GABRA1):c.703+18A>G
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
NM_001127644.2(GABRA1):c.704-14G>A
NM_001127644.2(GABRA1):c.708A>G (p.Glu236=)
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+13T>A
NM_001127644.2(GABRA1):c.74+16T>A
NM_001127644.2(GABRA1):c.74+9A>C
NM_001127644.2(GABRA1):c.74+9A>T rs41275339
NM_001127644.2(GABRA1):c.75-11T>C
NM_001127644.2(GABRA1):c.75-13T>C
NM_001127644.2(GABRA1):c.75-14_75-13del
NM_001127644.2(GABRA1):c.75-17T>G
NM_001127644.2(GABRA1):c.75-18C>A
NM_001127644.2(GABRA1):c.75-18C>G
NM_001127644.2(GABRA1):c.75-7T>C
NM_001127644.2(GABRA1):c.75-8T>G
NM_001127644.2(GABRA1):c.753C>T (p.Gly251=) rs2113446431
NM_001127644.2(GABRA1):c.768A>G (p.Gln256=)
NM_001127644.2(GABRA1):c.775C>T (p.Leu259=)
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.857-20del
NM_001127644.2(GABRA1):c.857-8C>T rs752572964
NM_001127644.2(GABRA1):c.867T>A (p.Thr289=)
NM_001127644.2(GABRA1):c.885A>G (p.Thr295=)
NM_001127644.2(GABRA1):c.906C>T (p.Asn302=)
NM_001127644.2(GABRA1):c.927T>C (p.Tyr309=)
NM_001127644.2(GABRA1):c.950T>C (p.Ile317Thr) rs1755335825
NM_001127644.2(GABRA1):c.978A>G (p.Ser326=)
NM_001127644.2(GABRA1):c.999A>T (p.Thr333=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.