ClinVar Miner

List of variants in gene GABRG2 reported as uncertain significance for childhood-onset epilepsy syndrome

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 248
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.*348A>G rs192973258 0.00328
NM_198904.4(GABRG2):c.-104T>G rs886060380 0.00066
NM_198904.4(GABRG2):c.*1427C>T rs375013278 0.00037
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.*422C>T rs752382943 0.00026
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.*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.243T>A (p.Leu81=) rs143295869 0.00014
NM_000816.3(GABRG2):c.-282C>T rs772816792 0.00013
NM_198904.4(GABRG2):c.135C>T (p.Asp45=) rs375308385 0.00007
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979 0.00006
NM_198904.4(GABRG2):c.643C>T (p.Arg215Cys) rs746626989 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.*1407T>A rs748908802 0.00004
NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp) rs374512652 0.00004
NM_198904.4(GABRG2):c.*1320G>A rs886060385 0.00003
NM_198904.4(GABRG2):c.-217C>G rs748771306 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.24C>A (p.Ser8Arg) rs183259247 0.00002
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val) rs772800839 0.00002
NM_198904.4(GABRG2):c.691G>A (p.Asp231Asn) rs773065895 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.-114T>C rs886060379 0.00001
NM_198904.4(GABRG2):c.-196C>T rs1478556756 0.00001
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) rs1415854808 0.00001
NM_198904.4(GABRG2):c.1111A>G (p.Lys371Glu) rs1164039510 0.00001
NM_198904.4(GABRG2):c.1156C>T (p.Pro386Ser) rs757311213 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.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.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.173C>A (p.Thr58Asn) rs763218917 0.00001
NM_198904.4(GABRG2):c.191G>A (p.Gly64Asp) rs1408343754 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.37G>A (p.Val13Ile) rs796052502 0.00001
NM_198904.4(GABRG2):c.470A>C (p.Lys157Thr) rs770364855 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 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.769+10A>G rs765703079 0.00001
NM_198904.4(GABRG2):c.985G>T (p.Val329Phe) rs768061156 0.00001
NC_000005.9:g.(?_161528235)_(161580379_?)dup
NC_000005.9:g.(?_161528241)_(161582545_?)dup
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.-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.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.1057T>C (p.Tyr353His)
NM_198904.4(GABRG2):c.106G>A (p.Gly36Ser) rs866056788
NM_198904.4(GABRG2):c.107+6A>G rs868452487
NM_198904.4(GABRG2):c.107+6A>T
NM_198904.4(GABRG2):c.107G>A (p.Gly36Asp) rs1266267390
NM_198904.4(GABRG2):c.1087C>G (p.Arg363Gly) rs374512652
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.1127C>T (p.Pro376Leu)
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.1153-2A>G rs1554101185
NM_198904.4(GABRG2):c.1156C>G (p.Pro386Ala)
NM_198904.4(GABRG2):c.1186A>G (p.Thr396Ala)
NM_198904.4(GABRG2):c.1197G>T (p.Met399Ile) rs1581462722
NM_198904.4(GABRG2):c.1204G>A (p.Ala402Thr)
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.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.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.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.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.1360C>T (p.Arg454Trp) rs796052515
NM_198904.4(GABRG2):c.1361G>A (p.Arg454Gln) rs904388241
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.1400T>G (p.Val467Gly)
NM_198904.4(GABRG2):c.1405T>C (p.Trp469Arg) rs2113651577
NM_198904.4(GABRG2):c.1409T>C (p.Val470Ala)
NM_198904.4(GABRG2):c.1415dup (p.Tyr472Ter) rs1210628894
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=) rs886060383
NM_198904.4(GABRG2):c.144T>A (p.Asp48Glu)
NM_198904.4(GABRG2):c.173C>T (p.Thr58Ile)
NM_198904.4(GABRG2):c.179A>T (p.Lys60Ile)
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.241C>T (p.Leu81Phe)
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.251A>T (p.Asp84Val)
NM_198904.4(GABRG2):c.259+5G>A
NM_198904.4(GABRG2):c.25A>C (p.Thr9Pro) rs2113080489
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.290A>T (p.Tyr97Phe) rs2113309275
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.327+6T>C rs1760938978
NM_198904.4(GABRG2):c.328-3C>G
NM_198904.4(GABRG2):c.349T>G (p.Phe117Val)
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.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.432A>C (p.Lys144Asn) rs1761105874
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.455T>C (p.Phe152Ser) rs1581350948
NM_198904.4(GABRG2):c.464C>T (p.Ser155Phe) rs267600531
NM_198904.4(GABRG2):c.476A>C (p.Asp159Ala)
NM_198904.4(GABRG2):c.48_49inv (p.Pro17Thr)
NM_198904.4(GABRG2):c.49C>G (p.Pro17Ala) rs1429217294
NM_198904.4(GABRG2):c.504G>C (p.Arg168Ser)
NM_198904.4(GABRG2):c.506T>C (p.Met169Thr) rs2113327195
NM_198904.4(GABRG2):c.548+4T>C
NM_198904.4(GABRG2):c.548+6C>A rs956763211
NM_198904.4(GABRG2):c.548G>T (p.Arg183Met)
NM_198904.4(GABRG2):c.549G>A (p.Arg183=) rs1761390378
NM_198904.4(GABRG2):c.550T>A (p.Leu184Met)
NM_198904.4(GABRG2):c.569G>T (p.Cys190Phe) rs2113352368
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+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.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.659A>G (p.Tyr220Cys) rs2113370519
NM_198904.4(GABRG2):c.671G>A (p.Arg224Gln)
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.6T>G (p.Ser2Arg)
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.727G>A (p.Val243Ile)
NM_198904.4(GABRG2):c.727G>T (p.Val243Phe) rs1287665753
NM_198904.4(GABRG2):c.748G>A (p.Glu250Lys) rs549251133
NM_198904.4(GABRG2):c.761C>T (p.Thr254Ile) rs1761625389
NM_198904.4(GABRG2):c.769+5G>C rs1761626533
NM_198904.4(GABRG2):c.769+8_769+9delinsAA
NM_198904.4(GABRG2):c.76T>G (p.Trp26Gly)
NM_198904.4(GABRG2):c.770-17T>G
NM_198904.4(GABRG2):c.776A>G (p.Tyr259Cys)
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.841A>T (p.Ile281Phe)
NM_198904.4(GABRG2):c.85C>T (p.Leu29Phe) rs2113081191
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.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.919T>G (p.Leu307Val) rs796052509
NM_198904.4(GABRG2):c.923-11C>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>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.941C>A (p.Thr314Lys)
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.965C>A (p.Ala322Asp) rs1765176231
NM_198904.4(GABRG2):c.988T>A (p.Ser330Thr)
NM_198904.4(GABRG2):c.991T>A (p.Tyr331Asn)

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