ClinVar Miner

List of variants in gene GABRG2 studied for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 526
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.631+1248A>G rs211035 0.82291
NM_198904.4(GABRG2):c.*661T>A rs424740 0.44730
NM_198904.4(GABRG2):c.*609C>T rs418210 0.32390
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_198904.4(GABRG2):c.-154C>T rs3219203 0.05943
NM_198904.4(GABRG2):c.*1497C>T rs11956247 0.01779
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01699
NM_198904.4(GABRG2):c.328-20T>G rs74810777 0.01604
NM_198904.4(GABRG2):c.*1974G>A rs150875037 0.00909
NM_198904.4(GABRG2):c.*794A>G rs73316347 0.00873
NM_198904.4(GABRG2):c.360G>A (p.Thr120=) rs77298346 0.00541
NM_198904.4(GABRG2):c.717A>G (p.Gln239=) rs78261481 0.00489
NM_198904.4(GABRG2):c.*343A>G rs41275341 0.00432
NM_198904.4(GABRG2):c.*385G>A rs185169107 0.00360
NM_198904.4(GABRG2):c.*348A>G rs192973258 0.00328
NM_198904.4(GABRG2):c.*261G>A rs148001179 0.00153
NM_198904.4(GABRG2):c.*1636T>C rs551794496 0.00113
NM_198904.4(GABRG2):c.*2095C>G rs138297122 0.00105
NM_198904.4(GABRG2):c.798T>C (p.Phe266=) rs115126975 0.00067
NM_198904.4(GABRG2):c.-104T>G rs886060380 0.00066
NM_198904.4(GABRG2):c.259+20G>A rs200011382 0.00063
NM_198904.4(GABRG2):c.631+18T>A rs145582456 0.00054
NM_198904.4(GABRG2):c.*1427C>T rs375013278 0.00037
NM_198904.4(GABRG2):c.*1518A>G rs567153845 0.00035
NM_198904.4(GABRG2):c.*296G>T rs1025917717 0.00035
NM_198904.4(GABRG2):c.*247T>C rs371389067 0.00032
NM_198904.4(GABRG2):c.922+20G>A rs11575991 0.00029
NM_198904.4(GABRG2):c.*422C>T rs752382943 0.00026
NM_198904.4(GABRG2):c.954C>T (p.Leu318=) rs749531013 0.00025
NM_198904.4(GABRG2):c.769+20A>C rs182866753 0.00024
NM_198904.4(GABRG2):c.922+6A>G rs375294947 0.00023
NM_198904.4(GABRG2):c.*374A>G rs573126853 0.00021
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=) rs150727562 0.00020
NM_198904.4(GABRG2):c.*384C>T rs773854777 0.00019
NM_198904.4(GABRG2):c.107+12C>T rs369466385 0.00018
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_198904.4(GABRG2):c.*1468A>G rs372041761 0.00016
NM_198904.4(GABRG2):c.768C>T (p.Ser256=) rs201672465 0.00015
NM_198904.4(GABRG2):c.11C>T (p.Pro4Leu) rs375295110 0.00014
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_000816.3(GABRG2):c.-282C>T rs772816792 0.00013
NM_198904.4(GABRG2):c.1122A>G (p.Lys374=) rs776166431 0.00011
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala) rs757868774 0.00011
NM_198904.4(GABRG2):c.162A>G (p.Thr54=) rs748255945 0.00011
NM_198904.4(GABRG2):c.1356T>C (p.Tyr452=) rs762386331 0.00009
NM_198904.4(GABRG2):c.1153-7G>A rs372884176 0.00007
NM_198904.4(GABRG2):c.135C>T (p.Asp45=) rs375308385 0.00007
NM_198904.4(GABRG2):c.769+18A>G rs2422105 0.00007
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.36A>T (p.Ser12=) rs762058667 0.00006
NM_198904.4(GABRG2):c.409T>C (p.Leu137=) rs200828542 0.00006
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979 0.00006
NM_198904.4(GABRG2):c.632-6C>T rs199883385 0.00006
NM_198904.4(GABRG2):c.643C>T (p.Arg215Cys) rs746626989 0.00006
NM_198904.4(GABRG2):c.690C>T (p.Gly230=) rs747988447 0.00006
NM_198904.4(GABRG2):c.999A>T (p.Thr333=) rs377638785 0.00006
NM_198904.4(GABRG2):c.*239C>G rs889255383 0.00005
NM_198904.4(GABRG2):c.549-3T>G rs750459631 0.00005
NM_198904.4(GABRG2):c.632-10C>A rs144248417 0.00005
NM_198904.4(GABRG2):c.*1407T>A rs748908802 0.00004
NM_198904.4(GABRG2):c.107+11C>A rs376576632 0.00004
NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp) rs374512652 0.00004
NM_198904.4(GABRG2):c.1153-8C>T rs771660227 0.00004
NM_198904.4(GABRG2):c.1189A>G (p.Ile397Val) rs375785093 0.00004
NM_198904.4(GABRG2):c.219G>A (p.Leu73=) rs753076158 0.00004
NM_198904.4(GABRG2):c.259+19C>T rs758196181 0.00004
NM_198904.4(GABRG2):c.52G>C (p.Val18Leu) rs141106898 0.00004
NM_198904.4(GABRG2):c.579A>G (p.Gln193=) rs751723547 0.00004
NM_198904.4(GABRG2):c.770-18A>C rs765653579 0.00004
NM_198904.4(GABRG2):c.942A>G (p.Thr314=) rs377502016 0.00004
NM_198904.4(GABRG2):c.972A>G (p.Lys324=) rs369614121 0.00004
NM_198904.4(GABRG2):c.*1320G>A rs886060385 0.00003
NM_198904.4(GABRG2):c.-217C>G rs748771306 0.00003
NM_198904.4(GABRG2):c.394A>T (p.Ile132Phe) rs752621588 0.00003
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter) rs796052504 0.00003
NM_198904.4(GABRG2):c.975G>A (p.Ser325=) rs774809218 0.00003
NM_198904.4(GABRG2):c.981C>G (p.Pro327=) rs1359283950 0.00003
NM_000816.3(GABRG2):c.-250C>T rs886060376 0.00002
NM_198904.4(GABRG2):c.*117A>G rs187224842 0.00002
NM_198904.4(GABRG2):c.1053G>A (p.Val351=) rs149472714 0.00002
NM_198904.4(GABRG2):c.1088G>A (p.Arg363Gln) rs780199000 0.00002
NM_198904.4(GABRG2):c.1350C>T (p.Asp450=) rs202246006 0.00002
NM_198904.4(GABRG2):c.24C>A (p.Ser8Arg) rs183259247 0.00002
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val) rs772800839 0.00002
NM_198904.4(GABRG2):c.582G>A (p.Leu194=) rs781498456 0.00002
NM_198904.4(GABRG2):c.631+19C>A rs1157159527 0.00002
NM_198904.4(GABRG2):c.691G>A (p.Asp231Asn) rs773065895 0.00002
NM_198904.4(GABRG2):c.753A>C (p.Val251=) rs764267675 0.00002
NM_198904.4(GABRG2):c.759G>A (p.Lys253=) rs202124575 0.00002
NM_000816.3(GABRG2):c.-334C>T rs886060374 0.00001
NM_000816.3(GABRG2):c.-355A>C rs1241101902 0.00001
NM_198904.4(GABRG2):c.*119G>A rs1168516188 0.00001
NM_198904.4(GABRG2):c.*164C>A rs1765522712 0.00001
NM_198904.4(GABRG2):c.*1678A>G rs1196588654 0.00001
NM_198904.4(GABRG2):c.*32T>C rs749257839 0.00001
NM_198904.4(GABRG2):c.*367G>A rs1365753500 0.00001
NM_198904.4(GABRG2):c.*468T>G rs1167572595 0.00001
NM_198904.4(GABRG2):c.*797G>T rs118064447 0.00001
NM_198904.4(GABRG2):c.-114T>C rs886060379 0.00001
NM_198904.4(GABRG2):c.-196C>T rs1478556756 0.00001
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523 0.00001
NM_198904.4(GABRG2):c.1002G>A (p.Ala334=) rs371601817 0.00001
NM_198904.4(GABRG2):c.1014T>C (p.Phe338=) rs1057521488 0.00001
NM_198904.4(GABRG2):c.107+10G>A rs369898285 0.00001
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) rs1415854808 0.00001
NM_198904.4(GABRG2):c.1110T>C (p.Asp370=) rs201824364 0.00001
NM_198904.4(GABRG2):c.1111A>G (p.Lys371Glu) rs1164039510 0.00001
NM_198904.4(GABRG2):c.1128+14T>C rs779125212 0.00001
NM_198904.4(GABRG2):c.1128+9C>T rs771223451 0.00001
NM_198904.4(GABRG2):c.1156C>T (p.Pro386Ser) rs757311213 0.00001
NM_198904.4(GABRG2):c.1158T>C (p.Pro386=) rs1406802023 0.00001
NM_198904.4(GABRG2):c.1170C>A (p.Ile390=) rs1312081444 0.00001
NM_198904.4(GABRG2):c.1171C>T (p.Arg391Cys) rs768576864 0.00001
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His) rs528036202 0.00001
NM_198904.4(GABRG2):c.1179A>T (p.Arg393Ser) rs770952397 0.00001
NM_198904.4(GABRG2):c.1182A>G (p.Ser394=) rs1458041410 0.00001
NM_198904.4(GABRG2):c.1195A>G (p.Met399Val) rs753097258 0.00001
NM_198904.4(GABRG2):c.1202A>T (p.Asn401Ile) rs778999273 0.00001
NM_198904.4(GABRG2):c.1208C>T (p.Thr403Ile) rs1765495907 0.00001
NM_198904.4(GABRG2):c.1273T>G (p.Phe425Val) rs780991820 0.00001
NM_198904.4(GABRG2):c.1284T>C (p.Cys428=) rs141138508 0.00001
NM_198904.4(GABRG2):c.1298G>A (p.Arg433Gln) rs774474550 0.00001
NM_198904.4(GABRG2):c.1334G>A (p.Arg445His) rs587780341 0.00001
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=) rs765904792 0.00001
NM_198904.4(GABRG2):c.1413C>T (p.Ser471=) rs765926862 0.00001
NM_198904.4(GABRG2):c.173C>A (p.Thr58Asn) rs763218917 0.00001
NM_198904.4(GABRG2):c.17T>C (p.Ile6Thr) rs759392289 0.00001
NM_198904.4(GABRG2):c.191G>A (p.Gly64Asp) rs1408343754 0.00001
NM_198904.4(GABRG2):c.260-14G>A rs1266683191 0.00001
NM_198904.4(GABRG2):c.270G>A (p.Thr90=) rs758084555 0.00001
NM_198904.4(GABRG2):c.333C>T (p.Tyr111=) rs777192588 0.00001
NM_198904.4(GABRG2):c.359C>T (p.Thr120Met) rs1194128280 0.00001
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser) rs754884716 0.00001
NM_198904.4(GABRG2):c.375T>A (p.Arg125=) rs767423340 0.00001
NM_198904.4(GABRG2):c.37G>A (p.Val13Ile) rs796052502 0.00001
NM_198904.4(GABRG2):c.420C>T (p.Asn140=) rs1581350860 0.00001
NM_198904.4(GABRG2):c.470A>C (p.Lys157Thr) rs770364855 0.00001
NM_198904.4(GABRG2):c.505A>T (p.Met169Leu) rs1369739056 0.00001
NM_198904.4(GABRG2):c.525T>C (p.Asp175=) rs770485021 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 0.00001
NM_198904.4(GABRG2):c.552G>A (p.Leu184=) rs758574181 0.00001
NM_198904.4(GABRG2):c.571C>T (p.Gln191Ter) rs1334776746 0.00001
NM_198904.4(GABRG2):c.644G>A (p.Arg215His) rs1561645172 0.00001
NM_198904.4(GABRG2):c.683A>C (p.Glu228Ala) rs903838076 0.00001
NM_198904.4(GABRG2):c.75G>A (p.Val25=) rs1452669998 0.00001
NM_198904.4(GABRG2):c.769+10A>G rs765703079 0.00001
NM_198904.4(GABRG2):c.769+12T>G rs1761627675 0.00001
NM_198904.4(GABRG2):c.770-7G>A rs751069405 0.00001
NM_198904.4(GABRG2):c.780G>A (p.Val260=) rs1426450541 0.00001
NM_198904.4(GABRG2):c.789T>G (p.Ser263=) rs754514348 0.00001
NM_198904.4(GABRG2):c.79A>G (p.Ile27Val) rs766990192 0.00001
NM_198904.4(GABRG2):c.808A>C (p.Arg270=) rs796052520 0.00001
NM_198904.4(GABRG2):c.985G>T (p.Val329Phe) rs768061156 0.00001
NM_198904.4(GABRG2):c.987C>A (p.Val329=) rs774964109 0.00001
NM_198904.4(GABRG2):c.99C>T (p.Leu33=) rs368162707 0.00001
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)_(161531016_?)del
NC_000005.9:g.(?_161495006)_(161495132_?)del
NC_000005.9:g.(?_161495006)_(161528343_?)del
NC_000005.9:g.(?_161495006)_(161531052_?)del
NC_000005.9:g.(?_161495006)_(161569342_?)del
NC_000005.9:g.(?_161495006)_(161580374_?)del
NC_000005.9:g.(?_161495006)_(161580374_?)dup
NC_000005.9:g.(?_161520814)_(161531052_?)del
NC_000005.9:g.(?_161520814)_(161531052_?)dup
NC_000005.9:g.(?_161520814)_(161580374_?)del
NC_000005.9:g.(?_161528235)_(161580379_?)dup
NC_000005.9:g.(?_161528241)_(161582545_?)dup
NC_000005.9:g.(?_161530875)_(161580374_?)del
NC_000005.9:g.(?_161569150)_(161580374_?)del
NM_000816.3(GABRG2):c.-241A>C rs886060377
NM_000816.3(GABRG2):c.-268C>A rs886060375
NM_198904.4(GABRG2):c.*1392A>T rs886060386
NM_198904.4(GABRG2):c.*1763A>T rs886060387
NM_198904.4(GABRG2):c.*1838T>A rs1039081493
NM_198904.4(GABRG2):c.*1889C>A rs886060388
NM_198904.4(GABRG2):c.*194G>A rs758832535
NM_198904.4(GABRG2):c.*1981G>C rs886060389
NM_198904.4(GABRG2):c.*250A>C rs886060384
NM_198904.4(GABRG2):c.*441T>C rs188825588
NM_198904.4(GABRG2):c.-179T>A rs886060378
NM_198904.4(GABRG2):c.1001C>T (p.Ala334Val) rs1415043929
NM_198904.4(GABRG2):c.1007A>G (p.Asp336Gly) rs1060501890
NM_198904.4(GABRG2):c.1008T>A (p.Asp336Glu)
NM_198904.4(GABRG2):c.1010T>G (p.Leu337Arg) rs1765180862
NM_198904.4(GABRG2):c.1012T>C (p.Phe338Leu) rs1765181104
NM_198904.4(GABRG2):c.1025G>A (p.Cys342Tyr) rs2113633149
NM_198904.4(GABRG2):c.1025del (p.Cys342fs) rs1060501889
NM_198904.4(GABRG2):c.102C>T (p.Tyr34=) rs780713471
NM_198904.4(GABRG2):c.1035del (p.Phe345fs) rs1581453822
NM_198904.4(GABRG2):c.1036G>T (p.Val346Phe)
NM_198904.4(GABRG2):c.1037T>G (p.Val346Gly)
NM_198904.4(GABRG2):c.1045G>A (p.Ala349Thr) rs756959300
NM_198904.4(GABRG2):c.1046C>A (p.Ala349Asp)
NM_198904.4(GABRG2):c.104C>T (p.Pro35Leu)
NM_198904.4(GABRG2):c.1056G>A (p.Glu352=) rs2113633277
NM_198904.4(GABRG2):c.1057T>C (p.Tyr353His)
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val) rs1060501888
NM_198904.4(GABRG2):c.106G>A (p.Gly36Ser) rs866056788
NM_198904.4(GABRG2):c.107+13C>A
NM_198904.4(GABRG2):c.107+15T>G
NM_198904.4(GABRG2):c.107+1G>A rs1758364128
NM_198904.4(GABRG2):c.107+6A>G rs868452487
NM_198904.4(GABRG2):c.107+6A>T
NM_198904.4(GABRG2):c.107+8G>A rs2113081716
NM_198904.4(GABRG2):c.107G>A (p.Gly36Asp) rs1266267390
NM_198904.4(GABRG2):c.108-12G>A
NM_198904.4(GABRG2):c.108-14A>G
NM_198904.4(GABRG2):c.108-15T>C
NM_198904.4(GABRG2):c.108-17A>G rs2113297683
NM_198904.4(GABRG2):c.108-1G>T
NM_198904.4(GABRG2):c.1087C>G (p.Arg363Gly) rs374512652
NM_198904.4(GABRG2):c.1087del (p.Arg363fs) rs1765186475
NM_198904.4(GABRG2):c.1112A>C (p.Lys371Thr) rs796052512
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del) rs727503941
NM_198904.4(GABRG2):c.1115A>G (p.Lys372Arg) rs1765190002
NM_198904.4(GABRG2):c.1116GAA[1] (p.Lys374del)
NM_198904.4(GABRG2):c.1127C>T (p.Pro376Leu)
NM_198904.4(GABRG2):c.1128+11T>C
NM_198904.4(GABRG2):c.1128+6T>C
NM_198904.4(GABRG2):c.1153-11C>A
NM_198904.4(GABRG2):c.1153-15C>G
NM_198904.4(GABRG2):c.1153-17C>T
NM_198904.4(GABRG2):c.1153-2A>G rs1554101185
NM_198904.4(GABRG2):c.1153-4C>G
NM_198904.4(GABRG2):c.1153-8C>G rs771660227
NM_198904.4(GABRG2):c.1156C>G (p.Pro386Ala)
NM_198904.4(GABRG2):c.1173C>A (p.Arg391=)
NM_198904.4(GABRG2):c.1181C>A (p.Ser394Ter)
NM_198904.4(GABRG2):c.1186A>G (p.Thr396Ala)
NM_198904.4(GABRG2):c.1192C>T (p.Gln398Ter) rs121909674
NM_198904.4(GABRG2):c.1197G>T (p.Met399Ile) rs1581462722
NM_198904.4(GABRG2):c.1202dup (p.Asn401fs)
NM_198904.4(GABRG2):c.1203T>C (p.Asn401=)
NM_198904.4(GABRG2):c.1204G>A (p.Ala402Thr)
NM_198904.4(GABRG2):c.1217_1218del (p.Gln406fs) rs1554101202
NM_198904.4(GABRG2):c.1224_1225insCA (p.Asp409fs) rs2113650735
NM_198904.4(GABRG2):c.1236C>A (p.Tyr412Ter)
NM_198904.4(GABRG2):c.1237G>A (p.Gly413Ser)
NM_198904.4(GABRG2):c.1268C>T (p.Ala423Val)
NM_198904.4(GABRG2):c.126TGA[2] (p.Asp45del) rs769160013
NM_198904.4(GABRG2):c.1271G>T (p.Ser424Ile)
NM_198904.4(GABRG2):c.1277T>C (p.Phe426Ser) rs2113650980
NM_198904.4(GABRG2):c.1277_1278insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTCTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCCAGTTTTTT (p.Phe426_Cys427insPhePhePhePhePhePheXaaXaaXaaXaaPhePhePhePheSerPhePhePheTyrPhePheIlePhePhePhePhePheIleIleLeuTer)
NM_198904.4(GABRG2):c.1277del (p.Phe426fs) rs1285618109
NM_198904.4(GABRG2):c.1279T>C (p.Cys427Arg) rs1200142311
NM_198904.4(GABRG2):c.1282T>C (p.Cys428Arg)
NM_198904.4(GABRG2):c.128A>T (p.Asp43Val)
NM_198904.4(GABRG2):c.1295G>T (p.Cys432Phe)
NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter) rs1554101224
NM_198904.4(GABRG2):c.1302A>T (p.Thr434=)
NM_198904.4(GABRG2):c.1305A>G (p.Gly435=) rs2113651080
NM_198904.4(GABRG2):c.1313G>A (p.Arg438Lys) rs796052514
NM_198904.4(GABRG2):c.1318G>A (p.Gly440Arg)
NM_198904.4(GABRG2):c.1324A>G (p.Ile442Val)
NM_198904.4(GABRG2):c.1331T>C (p.Ile444Thr) rs1765504023
NM_198904.4(GABRG2):c.1333C>T (p.Arg445Cys) rs1561662358
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu) rs587780341
NM_198904.4(GABRG2):c.1337T>A (p.Ile446Asn) rs2113651245
NM_198904.4(GABRG2):c.1348G>A (p.Asp450Asn)
NM_198904.4(GABRG2):c.1348G>C (p.Asp450His)
NM_198904.4(GABRG2):c.134A>G (p.Asp45Gly)
NM_198904.4(GABRG2):c.1353del (p.Tyr452fs)
NM_198904.4(GABRG2):c.1357del (p.Ala453fs)
NM_198904.4(GABRG2):c.1358C>A (p.Ala453Asp)
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val) rs2113651364
NM_198904.4(GABRG2):c.1359T>G (p.Ala453=)
NM_198904.4(GABRG2):c.1360C>T (p.Arg454Trp) rs796052515
NM_198904.4(GABRG2):c.1361G>A (p.Arg454Gln) rs904388241
NM_198904.4(GABRG2):c.1362G>C (p.Arg454=) rs2113651413
NM_198904.4(GABRG2):c.1365C>A (p.Ile455=) rs1242649084
NM_198904.4(GABRG2):c.1367_1370del (p.Phe456fs)
NM_198904.4(GABRG2):c.1383C>G (p.Phe461Leu) rs1765508103
NM_198904.4(GABRG2):c.1393A>T (p.Asn465Tyr) rs1581463309
NM_198904.4(GABRG2):c.1398G>T (p.Leu466=) rs1581463326
NM_198904.4(GABRG2):c.1400T>G (p.Val467Gly)
NM_198904.4(GABRG2):c.1404T>C (p.Tyr468=) rs1220037383
NM_198904.4(GABRG2):c.1405T>C (p.Trp469Arg) rs2113651577
NM_198904.4(GABRG2):c.1409T>C (p.Val470Ala)
NM_198904.4(GABRG2):c.140A>G (p.Glu47Gly) rs1760798437
NM_198904.4(GABRG2):c.1415dup (p.Tyr472Ter) rs1210628894
NM_198904.4(GABRG2):c.141A>G (p.Glu47=)
NM_198904.4(GABRG2):c.1422C>T (p.Tyr474=)
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=) rs886060383
NM_198904.4(GABRG2):c.144T>A (p.Asp48Glu)
NM_198904.4(GABRG2):c.150T>A (p.Ala50=)
NM_198904.4(GABRG2):c.168C>T (p.Val56=) rs2113298209
NM_198904.4(GABRG2):c.173C>T (p.Thr58Ile)
NM_198904.4(GABRG2):c.178A>T (p.Lys60Ter)
NM_198904.4(GABRG2):c.179A>T (p.Lys60Ile)
NM_198904.4(GABRG2):c.184C>G (p.Pro62Ala) rs1184632361
NM_198904.4(GABRG2):c.185C>G (p.Pro62Arg) rs771317794
NM_198904.4(GABRG2):c.185C>T (p.Pro62Leu) rs771317794
NM_198904.4(GABRG2):c.189G>C (p.Glu63Asp) rs774756037
NM_198904.4(GABRG2):c.1A>G (p.Met1Val) rs1581275976
NM_198904.4(GABRG2):c.206T>C (p.Ile69Thr)
NM_198904.4(GABRG2):c.216C>A (p.Asn72Lys)
NM_198904.4(GABRG2):c.230_231del (p.Gly76_Tyr77insTer)
NM_198904.4(GABRG2):c.241C>T (p.Leu81Phe)
NM_198904.4(GABRG2):c.243T>C (p.Leu81=) rs143295869
NM_198904.4(GABRG2):c.244C>T (p.Arg82Trp) rs146470870
NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198904.4(GABRG2):c.245G>T (p.Arg82Leu)
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.248C>T (p.Pro83Leu) rs1760808499
NM_198904.4(GABRG2):c.251A>T (p.Asp84Val)
NM_198904.4(GABRG2):c.259+1G>C rs2113298764
NM_198904.4(GABRG2):c.259+2T>A rs2113298770
NM_198904.4(GABRG2):c.259+2T>C rs2113298770
NM_198904.4(GABRG2):c.259+5G>A
NM_198904.4(GABRG2):c.259+5G>T rs2113298784
NM_198904.4(GABRG2):c.25A>C (p.Thr9Pro) rs2113080489
NM_198904.4(GABRG2):c.260-11T>C
NM_198904.4(GABRG2):c.260-16_260-15del rs747283752
NM_198904.4(GABRG2):c.260-1G>A rs2113309064
NM_198904.4(GABRG2):c.260-8C>G rs201449891
NM_198904.4(GABRG2):c.260-9T>C rs1581345919
NM_198904.4(GABRG2):c.260T>G (p.Val87Gly)
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.276T>G (p.Ile92Met)
NM_198904.4(GABRG2):c.287T>C (p.Met96Thr)
NM_198904.4(GABRG2):c.28G>A (p.Gly10Arg) rs1262705178
NM_198904.4(GABRG2):c.290A>T (p.Tyr97Phe) rs2113309275
NM_198904.4(GABRG2):c.291T>A (p.Tyr97Ter)
NM_198904.4(GABRG2):c.293T>A (p.Val98Glu)
NM_198904.4(GABRG2):c.299G>T (p.Ser100Ile)
NM_198904.4(GABRG2):c.302T>C (p.Ile101Thr)
NM_198904.4(GABRG2):c.303T>C (p.Ile101=) rs1760937526
NM_198904.4(GABRG2):c.306_311del (p.Pro103_Val104del)
NM_198904.4(GABRG2):c.308C>T (p.Pro103Leu)
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.327+12A>C rs188717038
NM_198904.4(GABRG2):c.327+12A>G
NM_198904.4(GABRG2):c.327+1del
NM_198904.4(GABRG2):c.327+6T>C rs1760938978
NM_198904.4(GABRG2):c.328-1G>A
NM_198904.4(GABRG2):c.328-3C>G
NM_198904.4(GABRG2):c.334A>C (p.Thr112Pro)
NM_198904.4(GABRG2):c.339T>C (p.Ile113=)
NM_198904.4(GABRG2):c.33C>T (p.Ser11=)
NM_198904.4(GABRG2):c.349T>G (p.Phe117Val)
NM_198904.4(GABRG2):c.351dup (p.Ala118fs) rs1554097873
NM_198904.4(GABRG2):c.363G>A (p.Trp121Ter)
NM_198904.4(GABRG2):c.365A>G (p.Tyr122Cys) rs1554097875
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.374G>A (p.Arg125His)
NM_198904.4(GABRG2):c.381A>G (p.Lys127=)
NM_198904.4(GABRG2):c.386del (p.Asn129fs)
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn) rs1194428749
NM_198904.4(GABRG2):c.394A>G (p.Ile132Val) rs752621588
NM_198904.4(GABRG2):c.3G>T (p.Met1Ile) rs1758351092
NM_198904.4(GABRG2):c.401T>C (p.Val134Ala) rs2113325670
NM_198904.4(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe) rs74930063
NM_198904.4(GABRG2):c.419A>G (p.Asn140Ser) rs1554097879
NM_198904.4(GABRG2):c.421A>G (p.Met141Val)
NM_198904.4(GABRG2):c.428G>A (p.Gly143Glu) rs747372679
NM_198904.4(GABRG2):c.429dup (p.Lys144fs) rs2113326012
NM_198904.4(GABRG2):c.432A>C (p.Lys144Asn) rs1761105874
NM_198904.4(GABRG2):c.441T>C (p.Ile147=)
NM_198904.4(GABRG2):c.445G>C (p.Asp149His) rs2113326238
NM_198904.4(GABRG2):c.447C>A (p.Asp149Glu) rs1761106635
NM_198904.4(GABRG2):c.451T>G (p.Phe151Val) rs2113326347
NM_198904.4(GABRG2):c.452_455del (p.Phe151fs)
NM_198904.4(GABRG2):c.453C>T (p.Phe151=)
NM_198904.4(GABRG2):c.455T>C (p.Phe152Ser) rs1581350948
NM_198904.4(GABRG2):c.462T>C (p.Asn154=)
NM_198904.4(GABRG2):c.464C>T (p.Ser155Phe) rs267600531
NM_198904.4(GABRG2):c.471del (p.Ala158fs) rs1554097890
NM_198904.4(GABRG2):c.476A>C (p.Asp159Ala)
NM_198904.4(GABRG2):c.48_49inv (p.Pro17Thr)
NM_198904.4(GABRG2):c.495C>A (p.Thr165=)
NM_198904.4(GABRG2):c.496_498dup (p.Pro166dup) rs2113326854
NM_198904.4(GABRG2):c.498del (p.Asn167fs) rs2113326854
NM_198904.4(GABRG2):c.49C>G (p.Pro17Ala) rs1429217294
NM_198904.4(GABRG2):c.501C>A (p.Asn167Lys) rs1581351046
NM_198904.4(GABRG2):c.504G>C (p.Arg168Ser)
NM_198904.4(GABRG2):c.506T>C (p.Met169Thr) rs2113327195
NM_198904.4(GABRG2):c.529C>G (p.Arg177Gly) rs267606837
NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter) rs267606837
NM_198904.4(GABRG2):c.530del (p.Arg177fs) rs878854144
NM_198904.4(GABRG2):c.542C>G (p.Thr181Ser)
NM_198904.4(GABRG2):c.548+4T>C
NM_198904.4(GABRG2):c.548+6C>A rs956763211
NM_198904.4(GABRG2):c.548+8T>C
NM_198904.4(GABRG2):c.548G>T (p.Arg183Met)
NM_198904.4(GABRG2):c.549-1G>T
NM_198904.4(GABRG2):c.549-6A>T
NM_198904.4(GABRG2):c.549G>A (p.Arg183=) rs1761390378
NM_198904.4(GABRG2):c.550T>A (p.Leu184Met)
NM_198904.4(GABRG2):c.567G>A (p.Glu189=) rs868460983
NM_198904.4(GABRG2):c.569G>T (p.Cys190Phe) rs2113352368
NM_198904.4(GABRG2):c.570C>A (p.Cys190Ter)
NM_198904.4(GABRG2):c.573A>G (p.Gln191=) rs1361752531
NM_198904.4(GABRG2):c.583C>A (p.His195Asn) rs981863613
NM_198904.4(GABRG2):c.596T>C (p.Met199Thr) rs770506471
NM_198904.4(GABRG2):c.608C>G (p.Ser203Cys) rs1334273668
NM_198904.4(GABRG2):c.631+1G>T
NM_198904.4(GABRG2):c.631+2T>C
NM_198904.4(GABRG2):c.631+4A>C rs1761398393
NM_198904.4(GABRG2):c.631+5G>C
NM_198904.4(GABRG2):c.631+5_631+8del
NM_198904.4(GABRG2):c.631+6T>C rs1761398589
NM_198904.4(GABRG2):c.632-16T>C
NM_198904.4(GABRG2):c.632-2A>T rs2113370272
NM_198904.4(GABRG2):c.632-4G>A
NM_198904.4(GABRG2):c.632-5G>T
NM_198904.4(GABRG2):c.632-7dup
NM_198904.4(GABRG2):c.632-8C>T rs779617978
NM_198904.4(GABRG2):c.642A>C (p.Pro214=)
NM_198904.4(GABRG2):c.643C>A (p.Arg215Ser)
NM_198904.4(GABRG2):c.644G>C (p.Arg215Pro) rs1561645172
NM_198904.4(GABRG2):c.644G>T (p.Arg215Leu) rs1561645172
NM_198904.4(GABRG2):c.650A>G (p.Glu217Gly) rs1761616421
NM_198904.4(GABRG2):c.654_664del (p.Ile218fs)
NM_198904.4(GABRG2):c.659A>G (p.Tyr220Cys) rs2113370519
NM_198904.4(GABRG2):c.669G>A (p.Lys223=)
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.671G>A (p.Arg224Gln)
NM_198904.4(GABRG2):c.677_681del (p.Ser225_Ser226insTer) rs1554098222
NM_198904.4(GABRG2):c.679G>A (p.Val227Ile)
NM_198904.4(GABRG2):c.690C>A (p.Gly230=) rs747988447
NM_198904.4(GABRG2):c.691G>T (p.Asp231Tyr)
NM_198904.4(GABRG2):c.697del (p.Arg233fs) rs1761620237
NM_198904.4(GABRG2):c.6T>G (p.Ser2Arg)
NM_198904.4(GABRG2):c.704G>A (p.Trp235Ter) rs1554098226
NM_198904.4(GABRG2):c.715C>T (p.Gln239Ter)
NM_198904.4(GABRG2):c.71C>A (p.Thr24Lys) rs1060501891
NM_198904.4(GABRG2):c.71C>G (p.Thr24Arg) rs1060501891
NM_198904.4(GABRG2):c.721T>G (p.Ser241Ala)
NM_198904.4(GABRG2):c.723A>G (p.Ser241=) rs1761622061
NM_198904.4(GABRG2):c.727G>A (p.Val243Ile)
NM_198904.4(GABRG2):c.727G>T (p.Val243Phe) rs1287665753
NM_198904.4(GABRG2):c.72G>C (p.Thr24=) rs1343042707
NM_198904.4(GABRG2):c.733C>T (p.Leu245=)
NM_198904.4(GABRG2):c.744C>T (p.Thr248=)
NM_198904.4(GABRG2):c.748G>A (p.Glu250Lys) rs549251133
NM_198904.4(GABRG2):c.748G>T (p.Glu250Ter) rs549251133
NM_198904.4(GABRG2):c.761C>T (p.Thr254Ile) rs1761625389
NM_198904.4(GABRG2):c.762A>G (p.Thr254=)
NM_198904.4(GABRG2):c.765T>G (p.Thr255=) rs2113371201
NM_198904.4(GABRG2):c.769+17A>G
NM_198904.4(GABRG2):c.769+1G>A rs2113371247
NM_198904.4(GABRG2):c.769+2T>C
NM_198904.4(GABRG2):c.769+2T>G rs1561645243
NM_198904.4(GABRG2):c.769+5G>C rs1761626533
NM_198904.4(GABRG2):c.769+8_769+9delinsAA
NM_198904.4(GABRG2):c.769+9C>A rs1761626925
NM_198904.4(GABRG2):c.769G>A (p.Gly257Arg) rs1554098235
NM_198904.4(GABRG2):c.76T>G (p.Trp26Gly)
NM_198904.4(GABRG2):c.770-17T>C
NM_198904.4(GABRG2):c.770-17T>G
NM_198904.4(GABRG2):c.770-9C>A
NM_198904.4(GABRG2):c.774T>C (p.Asp258=)
NM_198904.4(GABRG2):c.776A>G (p.Tyr259Cys)
NM_198904.4(GABRG2):c.782del (p.Val261fs)
NM_198904.4(GABRG2):c.801T>C (p.Asp267=)
NM_198904.4(GABRG2):c.804G>A (p.Leu268=)
NM_198904.4(GABRG2):c.817G>T (p.Gly273Ter) rs1469287853
NM_198904.4(GABRG2):c.831C>T (p.Ile277=) rs1764620798
NM_198904.4(GABRG2):c.835A>G (p.Thr279Ala)
NM_198904.4(GABRG2):c.836C>T (p.Thr279Ile) rs1254425203
NM_198904.4(GABRG2):c.838T>G (p.Tyr280Asp) rs1581439671
NM_198904.4(GABRG2):c.839A>G (p.Tyr280Cys)
NM_198904.4(GABRG2):c.840T>C (p.Tyr280=) rs558779533
NM_198904.4(GABRG2):c.841A>T (p.Ile281Phe)
NM_198904.4(GABRG2):c.843C>A (p.Ile281=) rs749127891
NM_198904.4(GABRG2):c.843C>T (p.Ile281=)
NM_198904.4(GABRG2):c.844C>T (p.Pro282Ser) rs796052508
NM_198904.4(GABRG2):c.84G>C (p.Leu28=) rs1554096092
NM_198904.4(GABRG2):c.852_858del (p.Leu285fs)
NM_198904.4(GABRG2):c.859G>A (p.Val287Ile) rs1764624249
NM_198904.4(GABRG2):c.85C>T (p.Leu29Phe) rs2113081191
NM_198904.4(GABRG2):c.861C>T (p.Val287=) rs778780107
NM_198904.4(GABRG2):c.862G>A (p.Val288Ile)
NM_198904.4(GABRG2):c.872G>C (p.Trp291Ser) rs1764625911
NM_198904.4(GABRG2):c.874G>T (p.Val292Leu)
NM_198904.4(GABRG2):c.877T>A (p.Ser293Thr) rs2113598950
NM_198904.4(GABRG2):c.888C>A (p.Ile296=)
NM_198904.4(GABRG2):c.888C>G (p.Ile296Met) rs1382620492
NM_198904.4(GABRG2):c.890A>G (p.Asn297Ser) rs1764626977
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr) rs1764627724
NM_198904.4(GABRG2):c.898G>A (p.Ala300Thr) rs2113599106
NM_198904.4(GABRG2):c.89T>C (p.Leu30Pro)
NM_198904.4(GABRG2):c.907G>A (p.Ala303Thr) rs1581439874
NM_198904.4(GABRG2):c.90G>C (p.Leu30=) rs115976622
NM_198904.4(GABRG2):c.915A>G (p.Thr305=) rs1398214382
NM_198904.4(GABRG2):c.915A>T (p.Thr305=)
NM_198904.4(GABRG2):c.916_922+8del rs2113599162
NM_198904.4(GABRG2):c.917C>T (p.Ser306Phe) rs2113599212
NM_198904.4(GABRG2):c.919T>G (p.Leu307Val) rs796052509
NM_198904.4(GABRG2):c.922+17T>G
NM_198904.4(GABRG2):c.922+18A>C
NM_198904.4(GABRG2):c.923-11C>G
NM_198904.4(GABRG2):c.923-12A>G
NM_198904.4(GABRG2):c.923G>A (p.Gly308Asp) rs1765171348
NM_198904.4(GABRG2):c.927C>G (p.Ile309Met) rs1554100910
NM_198904.4(GABRG2):c.929C>G (p.Thr310Ser) rs2113632484
NM_198904.4(GABRG2):c.929C>T (p.Thr310Ile) rs2113632484
NM_198904.4(GABRG2):c.931A>G (p.Thr311Ala) rs2113632510
NM_198904.4(GABRG2):c.935T>A (p.Val312Asp)
NM_198904.4(GABRG2):c.937C>A (p.Leu313Met) rs2113632536
NM_198904.4(GABRG2):c.93G>A (p.Leu31=) rs2113081300
NM_198904.4(GABRG2):c.940A>T (p.Thr314Ser) rs2113632555
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)
NM_198904.4(GABRG2):c.948C>A (p.Thr316=) rs1207623268
NM_198904.4(GABRG2):c.950C>G (p.Thr317Ser) rs1765173859
NM_198904.4(GABRG2):c.952C>G (p.Leu318Val) rs1561660795
NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter) rs1758361435
NM_198904.4(GABRG2):c.962T>C (p.Ile321Thr) rs1765175867
NM_198904.4(GABRG2):c.965C>A (p.Ala322Asp) rs1765176231
NM_198904.4(GABRG2):c.967C>G (p.Arg323Gly) rs796052510
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737
NM_198904.4(GABRG2):c.974C>T (p.Ser325Leu) rs1581453572
NM_198904.4(GABRG2):c.983A>T (p.Lys328Met) rs121909672
NM_198904.4(GABRG2):c.988T>A (p.Ser330Thr)
NM_198904.4(GABRG2):c.991T>A (p.Tyr331Asn)
NM_198904.4(GABRG2):c.992A>G (p.Tyr331Cys) rs1390117240
NM_198904.4(GABRG2):c.996C>T (p.Val332=) rs138964417
NM_198904.4(GABRG2):c.9G>A (p.Ser3=) rs55716248

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