ClinVar Miner

List of variants in gene GABRB2 reported as uncertain significance for developmental disorder of mental health

Included ClinVar conditions (728):
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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_001371727.1(GABRB2):c.1103A>G (p.Asn368Ser) rs768489439 0.00006
NM_001371727.1(GABRB2):c.1153A>T (p.Thr385Ser) rs201397195 0.00003
NM_001371727.1(GABRB2):c.85G>T (p.Asp29Tyr) rs775606746 0.00003
NM_001371727.1(GABRB2):c.998G>C (p.Arg333Thr) rs776801560 0.00003
NM_001371727.1(GABRB2):c.1202A>G (p.His401Arg) rs1435021718 0.00002
NM_001371727.1(GABRB2):c.1411G>A (p.Ala471Thr) rs140153076 0.00002
NM_001371727.1(GABRB2):c.1510A>G (p.Ile504Val) rs753338867 0.00002
NM_001371727.1(GABRB2):c.1010G>A (p.Arg337His) rs769682551 0.00001
NM_001371727.1(GABRB2):c.1093A>G (p.Ile365Val) rs776347142 0.00001
NM_001371727.1(GABRB2):c.10G>A (p.Val4Met) rs368787045 0.00001
NM_001371727.1(GABRB2):c.1117C>T (p.Arg373Ter) rs745319567 0.00001
NM_001371727.1(GABRB2):c.1154C>G (p.Thr385Ser) rs373905764 0.00001
NM_001371727.1(GABRB2):c.1378G>A (p.Val460Met) rs982764804 0.00001
NM_001371727.1(GABRB2):c.1381G>T (p.Ala461Ser) rs1580953898 0.00001
NM_001371727.1(GABRB2):c.1513G>A (p.Val505Ile) rs1218503196 0.00001
NM_001371727.1(GABRB2):c.577C>T (p.Arg193Cys) rs193920932 0.00001
NM_001371727.1(GABRB2):c.608C>T (p.Thr203Met) rs772591708 0.00001
NM_001371727.1(GABRB2):c.744A>G (p.Gln248=) rs935553427 0.00001
NM_001371727.1(GABRB2):c.88C>T (p.Pro30Ser) rs1760987338 0.00001
NC_000005.9:g.(?_160721068)_(160721455_?)dup
NM_001371727.1(GABRB2):c.1008A>T (p.Gln336His)
NM_001371727.1(GABRB2):c.1039A>G (p.Ser347Gly) rs780941452
NM_001371727.1(GABRB2):c.1057A>T (p.Met353Leu) rs1014388930
NM_001371727.1(GABRB2):c.1060C>A (p.Arg354Ser) rs41298406
NM_001371727.1(GABRB2):c.1061G>T (p.Arg354Leu) rs371217448
NM_001371727.1(GABRB2):c.1108A>G (p.Thr370Ala) rs143130991
NM_001371727.1(GABRB2):c.1118G>T (p.Arg373Leu)
NM_001371727.1(GABRB2):c.1121C>T (p.Ser374Phe) rs775375467
NM_001371727.1(GABRB2):c.1125G>T (p.Leu375Phe)
NM_001371727.1(GABRB2):c.1153A>G (p.Thr385Ala) rs201397195
NM_001371727.1(GABRB2):c.1171T>C (p.Tyr391His) rs1580981280
NM_001371727.1(GABRB2):c.1174G>C (p.Asp392His) rs150956270
NM_001371727.1(GABRB2):c.1198C>A (p.Pro400Thr) rs1757325283
NM_001371727.1(GABRB2):c.1217T>A (p.Leu406Gln)
NM_001371727.1(GABRB2):c.1231A>G (p.Ile411Val) rs2113333920
NM_001371727.1(GABRB2):c.1243A>G (p.Met415Val) rs1338788033
NM_001371727.1(GABRB2):c.1249A>G (p.Thr417Ala)
NM_001371727.1(GABRB2):c.1252T>C (p.Ser418Pro)
NM_001371727.1(GABRB2):c.1256A>T (p.Glu419Val) rs1757322902
NM_001371727.1(GABRB2):c.1274G>C (p.Gly425Ala) rs2113333823
NM_001371727.1(GABRB2):c.1286G>A (p.Ser429Asn) rs1580954153
NM_001371727.1(GABRB2):c.1293G>A (p.Met431Ile)
NM_001371727.1(GABRB2):c.1303G>A (p.Asp435Asn)
NM_001371727.1(GABRB2):c.1346A>G (p.His449Arg)
NM_001371727.1(GABRB2):c.1349G>C (p.Ser450Thr) rs61735410
NM_001371727.1(GABRB2):c.1364C>T (p.Ala455Val) rs2113333534
NM_001371727.1(GABRB2):c.1396C>T (p.Arg466Cys) rs2113333414
NM_001371727.1(GABRB2):c.1411G>T (p.Ala471Ser)
NM_001371727.1(GABRB2):c.142G>C (p.Asp48His)
NM_001371727.1(GABRB2):c.146T>G (p.Ile49Ser) rs2113490140
NM_001371727.1(GABRB2):c.1475G>A (p.Arg492His) rs1757313373
NM_001371727.1(GABRB2):c.151C>A (p.Leu51Met) rs1760985866
NM_001371727.1(GABRB2):c.1529A>T (p.Tyr510Phe)
NM_001371727.1(GABRB2):c.1531G>A (p.Val511Met) rs77133486
NM_001371727.1(GABRB2):c.155G>C (p.Arg52Thr)
NM_001371727.1(GABRB2):c.170-3C>T
NM_001371727.1(GABRB2):c.172C>T (p.Pro58Ser) rs769551029
NM_001371727.1(GABRB2):c.181G>T (p.Ala61Ser) rs747969321
NM_001371727.1(GABRB2):c.196A>G (p.Ile66Val) rs2113486744
NM_001371727.1(GABRB2):c.197T>C (p.Ile66Thr) rs1760943617
NM_001371727.1(GABRB2):c.224C>T (p.Ser75Phe)
NM_001371727.1(GABRB2):c.226G>C (p.Glu76Gln)
NM_001371727.1(GABRB2):c.235A>T (p.Met79Leu)
NM_001371727.1(GABRB2):c.237G>A (p.Met79Ile)
NM_001371727.1(GABRB2):c.23del (p.Gly8fs) rs1581075690
NM_001371727.1(GABRB2):c.253A>G (p.Met85Val)
NM_001371727.1(GABRB2):c.275G>A (p.Arg92Lys) rs1758064008
NM_001371727.1(GABRB2):c.301A>G (p.Ile101Val) rs2113264009
NM_001371727.1(GABRB2):c.304C>T (p.Pro102Ser)
NM_001371727.1(GABRB2):c.316A>C (p.Thr106Pro)
NM_001371727.1(GABRB2):c.371A>G (p.Asn124Ser)
NM_001371727.1(GABRB2):c.377A>G (p.Lys126Arg)
NM_001371727.1(GABRB2):c.394G>A (p.Gly132Arg) rs868863837
NM_001371727.1(GABRB2):c.421C>T (p.Arg141Cys)
NM_001371727.1(GABRB2):c.422G>A (p.Arg141His) rs1554102156
NM_001371727.1(GABRB2):c.430C>A (p.Pro144Thr)
NM_001371727.1(GABRB2):c.458+4T>A
NM_001371727.1(GABRB2):c.458+4T>G rs2113263590
NM_001371727.1(GABRB2):c.45C>G (p.Phe15Leu)
NM_001371727.1(GABRB2):c.482T>C (p.Met161Thr) rs1057521979
NM_001371727.1(GABRB2):c.503del (p.Pro168fs)
NM_001371727.1(GABRB2):c.51A>C (p.Leu17Phe)
NM_001371727.1(GABRB2):c.535G>A (p.Glu179Lys)
NM_001371727.1(GABRB2):c.542-3C>A
NM_001371727.1(GABRB2):c.553A>G (p.Thr185Ala)
NM_001371727.1(GABRB2):c.566A>T (p.Glu189Val) rs1754004974
NM_001371727.1(GABRB2):c.583G>A (p.Asp195Asn)
NM_001371727.1(GABRB2):c.591T>A (p.Asn197Lys) rs1426438345
NM_001371727.1(GABRB2):c.61G>T (p.Ala21Ser)
NM_001371727.1(GABRB2):c.625C>G (p.Gln209Glu) rs1554094279
NM_001371727.1(GABRB2):c.627_629del (p.Gln209_Phe210delinsHis) rs2113408160
NM_001371727.1(GABRB2):c.658A>G (p.Lys220Glu) rs1754001197
NM_001371727.1(GABRB2):c.663G>C (p.Lys221Asn) rs777977171
NM_001371727.1(GABRB2):c.680-3T>G rs763357499
NM_001371727.1(GABRB2):c.685T>C (p.Tyr229His) rs2113405112
NM_001371727.1(GABRB2):c.689C>A (p.Pro230His) rs1753947094
NM_001371727.1(GABRB2):c.691A>G (p.Arg231Gly)
NM_001371727.1(GABRB2):c.693G>T (p.Arg231Ser)
NM_001371727.1(GABRB2):c.700C>T (p.Leu234Phe)
NM_001371727.1(GABRB2):c.734T>G (p.Phe245Cys) rs1561612106
NM_001371727.1(GABRB2):c.73C>A (p.Gln25Lys)
NM_001371727.1(GABRB2):c.745A>G (p.Thr249Ala)
NM_001371727.1(GABRB2):c.758C>G (p.Ser253Cys) rs1753945485
NM_001371727.1(GABRB2):c.78-3T>C
NM_001371727.1(GABRB2):c.798T>G (p.Ile266Met)
NM_001371727.1(GABRB2):c.815C>T (p.Ala272Val) rs1753943911
NM_001371727.1(GABRB2):c.838A>G (p.Thr280Ala) rs2113397917
NM_001371727.1(GABRB2):c.841A>G (p.Thr281Ala)
NM_001371727.1(GABRB2):c.844G>T (p.Val282Phe) rs1561610490
NM_001371727.1(GABRB2):c.850A>G (p.Thr284Ala) rs1561610483
NM_001371727.1(GABRB2):c.857C>A (p.Thr286Asn) rs1753824585
NM_001371727.1(GABRB2):c.85G>A (p.Asp29Asn) rs775606746
NM_001371727.1(GABRB2):c.880dup (p.Glu294fs)
NM_001371727.1(GABRB2):c.908A>C (p.Lys303Thr) rs1554093885
NM_001371727.1(GABRB2):c.940G>C (p.Val314Leu)
NM_001371727.1(GABRB2):c.95A>G (p.Asn32Ser)
NM_001371727.1(GABRB2):c.987_992del (p.Phe330_Phe331del) rs1753821539
NM_001371727.1(GABRB2):c.99del (p.Met33fs)

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