ClinVar Miner

List of variants in gene GABRG2 studied for Epilepsy, childhood absence 2; Familial febrile seizures 8

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Total variants: 67
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HGVS dbSNP
NC_000005.9:g.(?_161528241)_(161582545_?)dup
NM_198903.2(GABRG2):c.1027G>A (p.Ala343Thr)
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.106G>A (p.Gly36Ser)
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.1094C>T (p.Ser365Leu)
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)
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.1232A>C (p.Lys411Thr) rs796052512
NM_198903.2(GABRG2):c.1273-2A>G rs1554101185
NM_198903.2(GABRG2):c.1273-8C>T rs771660227
NM_198903.2(GABRG2):c.1292G>A (p.Arg431His) rs528036202
NM_198903.2(GABRG2):c.1315A>G (p.Met439Val) rs753097258
NM_198903.2(GABRG2):c.1317G>T (p.Met439Ile)
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)
NM_198903.2(GABRG2):c.1418G>A (p.Arg473Gln)
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.1480C>T (p.Arg494Trp) rs796052515
NM_198903.2(GABRG2):c.1513A>T (p.Asn505Tyr)
NM_198903.2(GABRG2):c.1535dup (p.Tyr512Ter)
NM_198903.2(GABRG2):c.173C>A (p.Thr58Asn)
NM_198903.2(GABRG2):c.17T>C (p.Ile6Thr)
NM_198903.2(GABRG2):c.191G>A (p.Gly64Asp) rs1408343754
NM_198903.2(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198903.2(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198903.2(GABRG2):c.353C>T (p.Ala118Val)
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.409T>C (p.Leu137=) rs200828542
NM_198903.2(GABRG2):c.41A>G (p.Tyr14Cys)
NM_198903.2(GABRG2):c.455T>C (p.Phe152Ser)
NM_198903.2(GABRG2):c.501C>A (p.Asn167Lys)
NM_198903.2(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165
NM_198903.2(GABRG2):c.530del (p.Arg177fs) rs878854144
NM_198903.2(GABRG2):c.579A>G (p.Gln193=)
NM_198903.2(GABRG2):c.583C>A (p.His195Asn) rs981863613
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.764G>C (p.Arg255Pro) rs1561645172
NM_198903.2(GABRG2):c.764G>T (p.Arg255Leu)
NM_198903.2(GABRG2):c.797_801del (p.Ser265_Ser266insTer) rs1554098222
NM_198903.2(GABRG2):c.810C>A (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.890-7G>A rs751069405
NM_198903.2(GABRG2):c.909T>G (p.Ser303=) rs754514348
NM_198903.2(GABRG2):c.937G>T (p.Gly313Ter) rs1469287853
NM_198903.2(GABRG2):c.958T>G (p.Tyr320Asp)
Single allele

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