ClinVar Miner

List of variants in gene GABRG2 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.549-3T>G rs750459631 0.00005
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter) rs796052504 0.00003
NM_198904.4(GABRG2):c.571C>T (p.Gln191Ter) rs1334776746 0.00001
GRCh37/hg19 5q34(chr5:161493370-161531041)x1
GRCh37/hg19 5q34(chr5:161547032-161575610)x1
GRCh37/hg19 5q34(chr5:161547033-161572618)x1
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_000005.9: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.(?_161520814)_(161580374_?)del
NC_000005.9:g.(?_161530875)_(161580374_?)del
NC_000005.9:g.(?_161569150)_(161580374_?)del
NM_198904.4(GABRG2):c.1025del (p.Cys342fs) rs1060501889
NM_198904.4(GABRG2):c.1035del (p.Phe345fs) rs1581453822
NM_198904.4(GABRG2):c.1087del (p.Arg363fs) rs1765186475
NM_198904.4(GABRG2):c.1181C>A (p.Ser394Ter)
NM_198904.4(GABRG2):c.1192C>T (p.Gln398Ter) rs121909674
NM_198904.4(GABRG2):c.1202dup (p.Asn401fs)
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.1228G>T (p.Glu410Ter) rs1561662283
NM_198904.4(GABRG2):c.1236C>A (p.Tyr412Ter)
NM_198904.4(GABRG2):c.1277_1278insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTCTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCCAGTTTTTT (p.Phe426_Cys427insPhePhePhePhePhePheXaaXaaXaaXaaPhePhePhePheSerPhePhePheTyrPhePheIlePhePhePhePhePheIleIleLeuTer)
NM_198904.4(GABRG2):c.1277del (p.Phe426fs) rs1285618109
NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter) rs1554101224
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu) rs587780341
NM_198904.4(GABRG2):c.1353del (p.Tyr452fs)
NM_198904.4(GABRG2):c.1360C>T (p.Arg454Trp) rs796052515
NM_198904.4(GABRG2):c.178A>T (p.Lys60Ter)
NM_198904.4(GABRG2):c.212_215del (p.Asn71fs)
NM_198904.4(GABRG2):c.230_231del (p.Gly76_Tyr77insTer)
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.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.272T>G (p.Leu91Ter) rs796052518
NM_198904.4(GABRG2):c.291T>A (p.Tyr97Ter)
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.327+1del
NM_198904.4(GABRG2):c.334A>C (p.Thr112Pro)
NM_198904.4(GABRG2):c.351dup (p.Ala118fs) rs1554097873
NM_198904.4(GABRG2):c.363G>A (p.Trp121Ter)
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.386del (p.Asn129fs)
NM_198904.4(GABRG2):c.429dup (p.Lys144fs) rs2113326012
NM_198904.4(GABRG2):c.452_455del (p.Phe151fs)
NM_198904.4(GABRG2):c.471del (p.Ala158fs) rs1554097890
NM_198904.4(GABRG2):c.498del (p.Asn167fs) rs2113326854
NM_198904.4(GABRG2):c.501C>A (p.Asn167Lys) rs1581351046
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.570C>A (p.Cys190Ter)
NM_198904.4(GABRG2):c.654_664del (p.Ile218fs)
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.677_681del (p.Ser225_Ser226insTer) rs1554098222
NM_198904.4(GABRG2):c.697del (p.Arg233fs) rs1761620237
NM_198904.4(GABRG2):c.715C>T (p.Gln239Ter)
NM_198904.4(GABRG2):c.748G>T (p.Glu250Ter) rs549251133
NM_198904.4(GABRG2):c.769+2T>C
NM_198904.4(GABRG2):c.769+2T>G rs1561645243
NM_198904.4(GABRG2):c.769G>A (p.Gly257Arg) rs1554098235
NM_198904.4(GABRG2):c.770-1G>A rs796052507
NM_198904.4(GABRG2):c.782del (p.Val261fs)
NM_198904.4(GABRG2):c.817G>T (p.Gly273Ter) rs1469287853
NM_198904.4(GABRG2):c.839A>G (p.Tyr280Cys)
NM_198904.4(GABRG2):c.844C>A (p.Pro282Thr) rs796052508
NM_198904.4(GABRG2):c.844C>T (p.Pro282Ser) rs796052508
NM_198904.4(GABRG2):c.852_858del (p.Leu285fs)
NM_198904.4(GABRG2):c.877T>A (p.Ser293Thr) rs2113598950
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.929C>G (p.Thr310Ser) rs2113632484
NM_198904.4(GABRG2):c.940A>T (p.Thr314Ser) rs2113632555
NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter) rs1758361435
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.992A>G (p.Tyr331Cys) rs1390117240

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