ClinVar Miner

List of variants in gene GABRG2 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 204
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(?_162066642)_(162156539_?)del
NC_000005.10:g.(?_162067980)_(162068126_?)del
NC_000005.10:g.(?_162101215)_(162104046_?)del
NC_000005.10:g.(?_162101225)_(162153368_?)del
NC_000005.10:g.(?_162142144)_(162153388_?)del
NC_000005.9:g.(?_161381199_161531016del
NC_000005.9:g.(?_161495006)_(161580374_?)del
NC_000005.9:g.(?_161528235)_(161580379_?)dup
NC_000005.9:g.(?_161528241)_(161582545_?)dup
NM_198903.2(GABRG2):c.1027G>A (p.Ala343Thr) rs1581439874
NM_198903.2(GABRG2):c.1042+6A>G rs375294947
NM_198903.2(GABRG2):c.1047C>G (p.Ile349Met) rs1554100910
NM_198903.2(GABRG2):c.1062A>G (p.Thr354=) rs377502016
NM_198903.2(GABRG2):c.1068C>A (p.Thr356=) rs1207623268
NM_198903.2(GABRG2):c.106G>A (p.Gly36Ser) rs866056788
NM_198903.2(GABRG2):c.1072C>G (p.Leu358Val) rs1561660795
NM_198903.2(GABRG2):c.1074C>T (p.Leu358=) rs749531013
NM_198903.2(GABRG2):c.1087C>T (p.Arg363Trp) rs796052510
NM_198903.2(GABRG2):c.1088G>A (p.Arg363Gln) rs397514737
NM_198903.2(GABRG2):c.1094C>T (p.Ser365Leu) rs1581453572
NM_198903.2(GABRG2):c.1095G>A (p.Ser365=) rs774809218
NM_198903.2(GABRG2):c.1105G>T (p.Val369Phe) rs768061156
NM_198903.2(GABRG2):c.1120G>A (p.Ala374Thr) rs398123523
NM_198903.2(GABRG2):c.1127A>G (p.Asp376Gly) rs1060501890
NM_198903.2(GABRG2):c.1145del (p.Cys382fs) rs1060501889
NM_198903.2(GABRG2):c.1155del (p.Phe385fs) rs1581453822
NM_198903.2(GABRG2):c.1181G>T (p.Gly394Val) rs1060501888
NM_198903.2(GABRG2):c.11C>T (p.Pro4Leu) rs375295110
NM_198903.2(GABRG2):c.1207C>T (p.Arg403Trp) rs374512652
NM_198903.2(GABRG2):c.1208G>A (p.Arg403Gln) rs780199000
NM_198903.2(GABRG2):c.1233_1235del (p.Lys414del) rs727503941
NM_198903.2(GABRG2):c.1242A>G (p.Lys414=) rs776166431
NM_198903.2(GABRG2):c.1248+9C>T rs771223451
NM_198903.2(GABRG2):c.1273-2A>G rs1554101185
NM_198903.2(GABRG2):c.1273-7G>A rs372884176
NM_198903.2(GABRG2):c.1273-8C>G rs771660227
NM_198903.2(GABRG2):c.1273-8C>T rs771660227
NM_198903.2(GABRG2):c.1276C>T (p.Pro426Ser) rs757311213
NM_198903.2(GABRG2):c.1290C>A (p.Ile430=) rs1312081444
NM_198903.2(GABRG2):c.1292G>A (p.Arg431His) rs528036202
NM_198903.2(GABRG2):c.1302A>G (p.Ser434=) rs1458041410
NM_198903.2(GABRG2):c.1315A>G (p.Met439Val) rs753097258
NM_198903.2(GABRG2):c.1317G>T (p.Met439Ile) rs1581462722
NM_198903.2(GABRG2):c.1327A>G (p.Thr443Ala) rs757868774
NM_198903.2(GABRG2):c.1356C>T (p.Tyr452=) rs749951528
NM_198903.2(GABRG2):c.135C>T (p.Asp45=) rs375308385
NM_198903.2(GABRG2):c.1374C>T (p.Asp458=) rs113085352
NM_198903.2(GABRG2):c.1399T>C (p.Cys467Arg) rs1200142311
NM_198903.2(GABRG2):c.1404T>C (p.Cys468=) rs141138508
NM_198903.2(GABRG2):c.1418G>A (p.Arg473Gln) rs774474550
NM_198903.2(GABRG2):c.1440G>A (p.Gly480=) rs150727562
NM_198903.2(GABRG2):c.1454G>T (p.Arg485Leu) rs587780341
NM_198903.2(GABRG2):c.1470C>T (p.Asp490=) rs202246006
NM_198903.2(GABRG2):c.1480C>T (p.Arg494Trp) rs796052515
NM_198903.2(GABRG2):c.1513A>T (p.Asn505Tyr) rs1581463309
NM_198903.2(GABRG2):c.1518G>T (p.Leu506=) rs1581463326
NM_198903.2(GABRG2):c.1535dup (p.Tyr512Ter) rs1210628894
NM_198903.2(GABRG2):c.162A>G (p.Thr54=) rs748255945
NM_198903.2(GABRG2):c.173C>A (p.Thr58Asn) rs763218917
NM_198903.2(GABRG2):c.17T>C (p.Ile6Thr) rs759392289
NM_198903.2(GABRG2):c.191G>A (p.Gly64Asp) rs1408343754
NM_198903.2(GABRG2):c.219G>A (p.Leu73=) rs753076158
NM_198903.2(GABRG2):c.243T>A (p.Leu81=) rs143295869
NM_198903.2(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198903.2(GABRG2):c.260-9T>C rs1581345919
NM_198903.2(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198903.2(GABRG2):c.315C>T (p.Asn105=) rs11135176
NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198903.2(GABRG2):c.333C>T (p.Tyr111=) rs777192588
NM_198903.2(GABRG2):c.353C>T (p.Ala118Val) rs772800839
NM_198903.2(GABRG2):c.354G>A (p.Ala118=) rs61735412
NM_198903.2(GABRG2):c.360G>A (p.Thr120=) rs77298346
NM_198903.2(GABRG2):c.365A>G (p.Tyr122Cys) rs1554097875
NM_198903.2(GABRG2):c.36A>T (p.Ser12=) rs762058667
NM_198903.2(GABRG2):c.375T>A (p.Arg125=) rs767423340
NM_198903.2(GABRG2):c.37G>A (p.Val13Ile) rs796052502
NM_198903.2(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_198903.2(GABRG2):c.406C>T (p.Arg136Ter) rs796052504
NM_198903.2(GABRG2):c.409T>C (p.Leu137=) rs200828542
NM_198903.2(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979
NM_198903.2(GABRG2):c.420C>T (p.Asn140=) rs1581350860
NM_198903.2(GABRG2):c.455T>C (p.Phe152Ser) rs1581350948
NM_198903.2(GABRG2):c.470A>C (p.Lys157Thr) rs770364855
NM_198903.2(GABRG2):c.501C>A (p.Asn167Lys) rs1581351046
NM_198903.2(GABRG2):c.52G>C (p.Val18Leu) rs141106898
NM_198903.2(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165
NM_198903.2(GABRG2):c.530del (p.Arg177fs) rs878854144
NM_198903.2(GABRG2):c.549-3T>G rs750459631
NM_198903.2(GABRG2):c.579A>G (p.Gln193=) rs751723547
NM_198903.2(GABRG2):c.582G>A (p.Leu194=) rs781498456
NM_198903.2(GABRG2):c.583C>A (p.His195Asn) rs981863613
NM_198903.2(GABRG2):c.588C>T (p.Asn196=) rs211037
NM_198903.2(GABRG2):c.596T>C (p.Met199Thr) rs770506471
NM_198903.2(GABRG2):c.608C>G (p.Ser203Cys) rs1334273668
NM_198903.2(GABRG2):c.71C>A (p.Thr24Lys) rs1060501891
NM_198903.2(GABRG2):c.752-8C>T rs779617978
NM_198903.2(GABRG2):c.764G>C (p.Arg255Pro) rs1561645172
NM_198903.2(GABRG2):c.764G>T (p.Arg255Leu) rs1561645172
NM_198903.2(GABRG2):c.797_801del (p.Ser265_Ser266insTer) rs1554098222
NM_198903.2(GABRG2):c.810C>T (p.Gly270=) rs747988447
NM_198903.2(GABRG2):c.811G>A (p.Asp271Asn) rs773065895
NM_198903.2(GABRG2):c.837A>G (p.Gln279=) rs78261481
NM_198903.2(GABRG2):c.84G>C (p.Leu28=) rs1554096092
NM_198903.2(GABRG2):c.868G>A (p.Glu290Lys) rs549251133
NM_198903.2(GABRG2):c.888C>T (p.Ser296=) rs201672465
NM_198903.2(GABRG2):c.889G>A (p.Gly297Arg) rs1554098235
NM_198903.2(GABRG2):c.890-7G>A rs751069405
NM_198903.2(GABRG2):c.909T>G (p.Ser303=) rs754514348
NM_198903.2(GABRG2):c.90G>C (p.Leu30=) rs115976622
NM_198903.2(GABRG2):c.918T>C (p.Phe306=) rs115126975
NM_198903.2(GABRG2):c.928A>C (p.Arg310=) rs796052520
NM_198903.2(GABRG2):c.937G>T (p.Gly313Ter) rs1469287853
NM_198903.2(GABRG2):c.958T>G (p.Tyr320Asp) rs1581439671
NM_198903.2(GABRG2):c.960T>C (p.Tyr320=) rs558779533
NM_198903.2(GABRG2):c.963C>A (p.Ile321=) rs749127891
NM_198903.2(GABRG2):c.964C>T (p.Pro322Ser) rs796052508
NM_198903.2(GABRG2):c.99C>T (p.Leu33=) rs368162707
NM_198903.2(GABRG2):c.9G>A (p.Ser3=) rs55716248
NM_198904.4(GABRG2):c.1001C>T (p.Ala334Val)
NM_198904.4(GABRG2):c.1010T>G (p.Leu337Arg)
NM_198904.4(GABRG2):c.1012T>C (p.Phe338Leu)
NM_198904.4(GABRG2):c.1045G>A (p.Ala349Thr)
NM_198904.4(GABRG2):c.1053G>A (p.Val351=)
NM_198904.4(GABRG2):c.107+1G>A
NM_198904.4(GABRG2):c.1087del (p.Arg363fs)
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr)
NM_198904.4(GABRG2):c.1115A>G (p.Lys372Arg)
NM_198904.4(GABRG2):c.1158T>C (p.Pro386=)
NM_198904.4(GABRG2):c.1179A>T (p.Arg393Ser)
NM_198904.4(GABRG2):c.1189A>G (p.Ile397Val)
NM_198904.4(GABRG2):c.1208C>T (p.Thr403Ile)
NM_198904.4(GABRG2):c.1224_1225insCA (p.Asp409fs)
NM_198904.4(GABRG2):c.126TGA[2] (p.Asp45del)
NM_198904.4(GABRG2):c.1277del (p.Phe426fs)
NM_198904.4(GABRG2):c.1305A>G (p.Gly435=)
NM_198904.4(GABRG2):c.1331T>C (p.Ile444Thr)
NM_198904.4(GABRG2):c.1356T>C (p.Tyr452=)
NM_198904.4(GABRG2):c.1362G>C (p.Arg454=)
NM_198904.4(GABRG2):c.1365C>A (p.Ile455=)
NM_198904.4(GABRG2):c.1383C>G (p.Phe461Leu)
NM_198904.4(GABRG2):c.140A>G (p.Glu47Gly)
NM_198904.4(GABRG2):c.1413C>T (p.Ser471=)
NM_198904.4(GABRG2):c.184C>G (p.Pro62Ala)
NM_198904.4(GABRG2):c.185C>G (p.Pro62Arg)
NM_198904.4(GABRG2):c.243T>C (p.Leu81=)
NM_198904.4(GABRG2):c.248C>T (p.Pro83Leu)
NM_198904.4(GABRG2):c.259+1G>C
NM_198904.4(GABRG2):c.259+2T>A
NM_198904.4(GABRG2):c.260-8C>G
NM_198904.4(GABRG2):c.270G>A (p.Thr90=)
NM_198904.4(GABRG2):c.28G>A (p.Gly10Arg)
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser)
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn)
NM_198904.4(GABRG2):c.394A>G (p.Ile132Val)
NM_198904.4(GABRG2):c.394A>T (p.Ile132Phe)
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe)
NM_198904.4(GABRG2):c.429dup (p.Lys144fs)
NM_198904.4(GABRG2):c.432A>C (p.Lys144Asn)
NM_198904.4(GABRG2):c.447C>A (p.Asp149Glu)
NM_198904.4(GABRG2):c.49C>G (p.Pro17Ala)
NM_198904.4(GABRG2):c.505A>T (p.Met169Leu)
NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter)
NM_198904.4(GABRG2):c.549G>A (p.Arg183=)
NM_198904.4(GABRG2):c.552G>A (p.Leu184=)
NM_198904.4(GABRG2):c.567G>A (p.Glu189=)
NM_198904.4(GABRG2):c.571C>T (p.Gln191Ter)
NM_198904.4(GABRG2):c.573A>G (p.Gln191=)
NM_198904.4(GABRG2):c.631+4A>C
NM_198904.4(GABRG2):c.631+6T>C
NM_198904.4(GABRG2):c.632-10C>A
NM_198904.4(GABRG2):c.632-2A>T
NM_198904.4(GABRG2):c.632-6C>T
NM_198904.4(GABRG2):c.643C>T (p.Arg215Cys)
NM_198904.4(GABRG2):c.644G>A (p.Arg215His)
NM_198904.4(GABRG2):c.650A>G (p.Glu217Gly)
NM_198904.4(GABRG2):c.697del (p.Arg233fs)
NM_198904.4(GABRG2):c.727G>T (p.Val243Phe)
NM_198904.4(GABRG2):c.72G>C (p.Thr24=)
NM_198904.4(GABRG2):c.748G>T (p.Glu250Ter)
NM_198904.4(GABRG2):c.753A>C (p.Val251=)
NM_198904.4(GABRG2):c.759G>A (p.Lys253=)
NM_198904.4(GABRG2):c.75G>A (p.Val25=)
NM_198904.4(GABRG2):c.761C>T (p.Thr254Ile)
NM_198904.4(GABRG2):c.765T>G (p.Thr255=)
NM_198904.4(GABRG2):c.769+1G>A
NM_198904.4(GABRG2):c.769+5G>C
NM_198904.4(GABRG2):c.769+9C>A
NM_198904.4(GABRG2):c.79A>G (p.Ile27Val)
NM_198904.4(GABRG2):c.859G>A (p.Val287Ile)
NM_198904.4(GABRG2):c.861C>T (p.Val287=)
NM_198904.4(GABRG2):c.872G>C (p.Trp291Ser)
NM_198904.4(GABRG2):c.890A>G (p.Asn297Ser)
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr)
NM_198904.4(GABRG2):c.93G>A (p.Leu31=)
NM_198904.4(GABRG2):c.950C>G (p.Thr317Ser)
NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter)
NM_198904.4(GABRG2):c.962T>C (p.Ile321Thr)
NM_198904.4(GABRG2):c.965C>A (p.Ala322Asp)
NM_198904.4(GABRG2):c.967C>G (p.Arg323Gly)
NM_198904.4(GABRG2):c.972A>G (p.Lys324=)
NM_198904.4(GABRG2):c.981C>G (p.Pro327=)
NM_198904.4(GABRG2):c.987C>A (p.Val329=)
NM_198904.4(GABRG2):c.996C>T (p.Val332=)
NM_198904.4(GABRG2):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.