ClinVar Miner

List of variants in gene GABRG2 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.643C>T (p.Arg215Cys) rs746626989 0.00006
NM_198904.4(GABRG2):c.549-3T>G rs750459631 0.00005
NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp) rs374512652 0.00004
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val) rs772800839 0.00002
NM_198904.4(GABRG2):c.1156C>T (p.Pro386Ser) rs757311213 0.00001
NM_198904.4(GABRG2):c.359C>T (p.Thr120Met) rs1194128280 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.631+1254C>T rs886645578 0.00001
NM_198904.4(GABRG2):c.748G>A (p.Glu250Lys) rs549251133 0.00001
NM_198904.4(GABRG2):c.985G>T (p.Val329Phe) rs768061156 0.00001
NM_000816.3(GABRG2):c.770_772del
NM_198904.4(GABRG2):c.1006G>A (p.Asp336Asn) rs2532756452
NM_198904.4(GABRG2):c.1008T>A (p.Asp336Glu) rs2532756474
NM_198904.4(GABRG2):c.101A>C (p.Tyr34Ser) rs1459935300
NM_198904.4(GABRG2):c.1029C>G (p.Phe343Leu) rs796052511
NM_198904.4(GABRG2):c.1051G>T (p.Val351Leu) rs2532756688
NM_198904.4(GABRG2):c.107+3A>G rs796052517
NM_198904.4(GABRG2):c.1087C>G (p.Arg363Gly) rs374512652
NM_198904.4(GABRG2):c.1102G>A (p.Asp368Asn)
NM_198904.4(GABRG2):c.1112A>C (p.Lys371Thr) rs796052512
NM_198904.4(GABRG2):c.1152_1152+6del rs2532767283
NM_198904.4(GABRG2):c.1204G>A (p.Ala402Thr) rs143945240
NM_198904.4(GABRG2):c.1222A>G (p.Arg408Gly) rs2532774870
NM_198904.4(GABRG2):c.1237G>A (p.Gly413Ser) rs1229153846
NM_198904.4(GABRG2):c.1243G>A (p.Glu415Lys) rs2113650816
NM_198904.4(GABRG2):c.1257C>T (p.Gly419=) rs1414655532
NM_198904.4(GABRG2):c.1271G>T (p.Ser424Ile) rs369200303
NM_198904.4(GABRG2):c.128A>T (p.Asp43Val) rs1760796569
NM_198904.4(GABRG2):c.1291G>C (p.Asp431His) rs1344138083
NM_198904.4(GABRG2):c.1295G>T (p.Cys432Phe) rs2532775309
NM_198904.4(GABRG2):c.1313G>A (p.Arg438Lys) rs796052514
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.1346T>A (p.Met449Lys) rs2113651281
NM_198904.4(GABRG2):c.1347G>A (p.Met449Ile) rs2113651295
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val) rs2113651364
NM_198904.4(GABRG2):c.1361G>A (p.Arg454Gln) rs904388241
NM_198904.4(GABRG2):c.137A>C (p.Tyr46Ser) rs1218953360
NM_198904.4(GABRG2):c.137A>G (p.Tyr46Cys) rs1218953360
NM_198904.4(GABRG2):c.1393A>T (p.Asn465Tyr) rs1581463309
NM_198904.4(GABRG2):c.1394A>G (p.Asn465Ser) rs2113651504
NM_198904.4(GABRG2):c.13A>T (p.Asn5Tyr) rs774337016
NM_198904.4(GABRG2):c.1403A>G (p.Tyr468Cys) rs749946230
NM_198904.4(GABRG2):c.1407G>A (p.Trp469Ter)
NM_198904.4(GABRG2):c.1415dup (p.Tyr472Ter) rs1210628894
NM_198904.4(GABRG2):c.190G>T (p.Gly64Cys)
NM_198904.4(GABRG2):c.241C>T (p.Leu81Phe) rs1374414439
NM_198904.4(GABRG2):c.290A>G (p.Tyr97Cys)
NM_198904.4(GABRG2):c.2T>C (p.Met1Thr)
NM_198904.4(GABRG2):c.329_334dup (p.Tyr111_Thr112insLysTyr) rs2113324917
NM_198904.4(GABRG2):c.330A>T (p.Glu110Asp) rs2532568475
NM_198904.4(GABRG2):c.343A>G (p.Ile115Val)
NM_198904.4(GABRG2):c.414C>G (p.Asn138Lys)
NM_198904.4(GABRG2):c.432A>T (p.Lys144Asn) rs1761105874
NM_198904.4(GABRG2):c.448A>G (p.Thr150Ala)
NM_198904.4(GABRG2):c.472G>A (p.Ala158Thr) rs2113326740
NM_198904.4(GABRG2):c.557T>C (p.Ile186Thr) rs2113352303
NM_198904.4(GABRG2):c.569G>A (p.Cys190Tyr)
NM_198904.4(GABRG2):c.571C>A (p.Gln191Lys) rs1334776746
NM_198904.4(GABRG2):c.595A>G (p.Met199Val)
NM_198904.4(GABRG2):c.630T>G (p.Ser210Arg)
NM_198904.4(GABRG2):c.644G>T (p.Arg215Leu) rs1561645172
NM_198904.4(GABRG2):c.652A>T (p.Ile218Phe) rs1761616628
NM_198904.4(GABRG2):c.70A>G (p.Thr24Ala) rs796052516
NM_198904.4(GABRG2):c.71C>T (p.Thr24Met)
NM_198904.4(GABRG2):c.806G>T (p.Ser269Ile)
NM_198904.4(GABRG2):c.808A>G (p.Arg270Gly) rs796052520
NM_198904.4(GABRG2):c.875T>G (p.Val292Gly) rs2113598938
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr) rs1764627724
NM_198904.4(GABRG2):c.923-11C>G rs2532755692
NM_198904.4(GABRG2):c.931A>G (p.Thr311Ala) rs2113632510
NM_198904.4(GABRG2):c.934G>C (p.Val312Leu)
NM_198904.4(GABRG2):c.935T>A (p.Val312Asp) rs2532755838
NM_198904.4(GABRG2):c.944T>C (p.Met315Thr) rs1489158656
NM_198904.4(GABRG2):c.988T>A (p.Ser330Thr) rs2532756345

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