ClinVar Miner

List of variants in gene GABRG2 reported by GeneDx

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Gene type:
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Total variants: 98
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HGVS dbSNP
GRCh37/hg19 5q34(chr5:161493370-161531041)x1
NM_198903.2(GABRG2):c.*20A>C rs796052501
NM_198903.2(GABRG2):c.-154C>T rs3219203
NM_198903.2(GABRG2):c.1005G>A (p.Trp335Ter) rs1554100509
NM_198903.2(GABRG2):c.1035A>G (p.Thr345=) rs1398214382
NM_198903.2(GABRG2):c.1039T>G (p.Leu347Val) rs796052509
NM_198903.2(GABRG2):c.1042+108A>C
NM_198903.2(GABRG2):c.1042+20G>A rs11575991
NM_198903.2(GABRG2):c.1042+6A>G rs375294947
NM_198903.2(GABRG2):c.1062A>G (p.Thr354=) rs377502016
NM_198903.2(GABRG2):c.107+11C>A
NM_198903.2(GABRG2):c.107+12C>T rs369466385
NM_198903.2(GABRG2):c.107+223T>G
NM_198903.2(GABRG2):c.107+3A>G rs796052517
NM_198903.2(GABRG2):c.107+6A>G rs868452487
NM_198903.2(GABRG2):c.1074C>T (p.Leu358=) rs749531013
NM_198903.2(GABRG2):c.108-182G>A
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.1105G>T (p.Val369Phe) rs768061156
NM_198903.2(GABRG2):c.1120G>A (p.Ala374Thr) rs398123523
NM_198903.2(GABRG2):c.1122G>A (p.Ala374=) rs371601817
NM_198903.2(GABRG2):c.1134T>C (p.Phe378=) rs1057521488
NM_198903.2(GABRG2):c.1149C>A (p.Phe383Leu) rs796052511
NM_198903.2(GABRG2):c.1149C>G (p.Phe383Leu) rs796052511
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.1233_1235del (p.Lys414del) rs727503941
NM_198903.2(GABRG2):c.1248+14T>C rs779125212
NM_198903.2(GABRG2):c.1248+99C>A
NM_198903.2(GABRG2):c.1276C>T (p.Pro426Ser) rs757311213
NM_198903.2(GABRG2):c.1337_1338del (p.Gln446fs) rs1554101202
NM_198903.2(GABRG2):c.1356C>T (p.Tyr452=) rs749951528
NM_198903.2(GABRG2):c.1374C>T (p.Asp458=) rs113085352
NM_198903.2(GABRG2):c.13A>T (p.Asn5Tyr) rs774337016
NM_198903.2(GABRG2):c.1404T>C (p.Cys468=) rs141138508
NM_198903.2(GABRG2):c.1433G>A (p.Arg478Lys) rs796052514
NM_198903.2(GABRG2):c.1440G>A (p.Gly480=) rs150727562
NM_198903.2(GABRG2):c.1480C>T (p.Arg494Trp) rs796052515
NM_198903.2(GABRG2):c.1509G>A (p.Leu503=) rs765904792
NM_198903.2(GABRG2):c.15T>C (p.Asn5=) rs1057522820
NM_198903.2(GABRG2):c.162A>G (p.Thr54=) rs748255945
NM_198903.2(GABRG2):c.220C>G (p.Leu74Val) rs796052503
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.259+19C>T rs758196181
NM_198903.2(GABRG2):c.259+20G>A rs200011382
NM_198903.2(GABRG2):c.259+60A>T
NM_198903.2(GABRG2):c.260-16_260-15del rs747283752
NM_198903.2(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198903.2(GABRG2):c.272T>G (p.Leu91Ter) rs796052518
NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198903.2(GABRG2):c.327+12A>C rs188717038
NM_198903.2(GABRG2):c.328-20T>G rs74810777
NM_198903.2(GABRG2):c.333C>T (p.Tyr111=) rs777192588
NM_198903.2(GABRG2):c.351dup (p.Ala118fs) rs1554097873
NM_198903.2(GABRG2):c.360G>A (p.Thr120=) rs77298346
NM_198903.2(GABRG2):c.37G>A (p.Val13Ile) rs796052502
NM_198903.2(GABRG2):c.420C>T (p.Asn140=)
NM_198903.2(GABRG2):c.470A>C (p.Lys157Thr) rs770364855
NM_198903.2(GABRG2):c.471del (p.Ala158fs) rs1554097890
NM_198903.2(GABRG2):c.525T>C (p.Asp175=) rs770485021
NM_198903.2(GABRG2):c.540C>A (p.Tyr180Ter) rs1057520476
NM_198903.2(GABRG2):c.548+14A>G rs1057521821
NM_198903.2(GABRG2):c.548+306C>T
NM_198903.2(GABRG2):c.549-3T>G rs750459631
NM_198903.2(GABRG2):c.571C>A (p.Gln191Lys) rs1334776746
NM_198903.2(GABRG2):c.574T>C (p.Leu192=) rs1554098050
NM_198903.2(GABRG2):c.631+18T>A rs145582456
NM_198903.2(GABRG2):c.632-191C>T
NM_198903.2(GABRG2):c.632-28TTGTT[5] rs1247520830
NM_198903.2(GABRG2):c.649C>T (p.Gln217Ter) rs886645578
NM_198903.2(GABRG2):c.678G>A (p.Ser226=) rs143065876
NM_198903.2(GABRG2):c.679G>T (p.Ala227Ser) rs148215078
NM_198903.2(GABRG2):c.705C>A (p.Gly235=) rs114972096
NM_198903.2(GABRG2):c.70A>G (p.Thr24Ala) rs796052516
NM_198903.2(GABRG2):c.751+129C>T
NM_198903.2(GABRG2):c.751+4C>T rs587780948
NM_198903.2(GABRG2):c.751+52G>A
NM_198903.2(GABRG2):c.752-8C>T
NM_198903.2(GABRG2):c.790C>T (p.Arg264Ter) rs1045493304
NM_198903.2(GABRG2):c.837A>G (p.Gln279=) rs78261481
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.889+18A>G rs2422105
NM_198903.2(GABRG2):c.889+20A>C rs182866753
NM_198903.2(GABRG2):c.890-1G>A rs796052507
NM_198903.2(GABRG2):c.890-230A>T
NM_198903.2(GABRG2):c.890-81A>G
NM_198903.2(GABRG2):c.918T>C (p.Phe306=) rs115126975
NM_198903.2(GABRG2):c.928A>G (p.Arg310Gly) rs796052520
NM_198903.2(GABRG2):c.942C>A (p.Tyr314Ter) rs1064794724
NM_198903.2(GABRG2):c.942C>G (p.Tyr314Ter) rs1064794724
NM_198903.2(GABRG2):c.960T>C (p.Tyr320=) rs558779533
NM_198903.2(GABRG2):c.964C>A (p.Pro322Thr) rs796052508
NM_198903.2(GABRG2):c.99C>T (p.Leu33=) rs368162707

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