ClinVar Miner

List of variants in gene GABRB3 studied for Developmental and epileptic encephalopathy, 43

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.1080+15A>G rs3751582 0.34839
NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg) rs759931649 0.00009
NM_000814.6(GABRB3):c.650G>A (p.Arg217His) rs121913125 0.00005
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109 0.00003
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) rs756369937 0.00003
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu) rs1224993536 0.00002
NM_000814.6(GABRB3):c.1280A>G (p.His427Arg) rs1710427903 0.00001
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser) rs763319754
NM_000814.6(GABRB3):c.1340C>T (p.Ala447Val) rs2504113979
NM_000814.6(GABRB3):c.151C>A (p.Arg51Ser)
NM_000814.6(GABRB3):c.151C>G (p.Arg51Gly) rs2140199581
NM_000814.6(GABRB3):c.154C>A (p.Leu52Ile)
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val) rs1057524415
NM_000814.6(GABRB3):c.173-2A>T rs1891176092
NM_000814.6(GABRB3):c.238A>G (p.Met80Val)
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) rs1064794797
NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter) rs942355738
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.360C>G (p.Asp120Glu)
NM_000814.6(GABRB3):c.406G>A (p.Val136Met) rs773544664
NM_000814.6(GABRB3):c.425G>A (p.Arg142His)
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala) rs2504328867
NM_000814.6(GABRB3):c.461+15T>G rs1892473260
NM_000814.6(GABRB3):c.484A>G (p.Met162Val)
NM_000814.6(GABRB3):c.493C>T (p.Leu165Phe) rs2504213487
NM_000814.6(GABRB3):c.496A>G (p.Arg166Gly) rs1890857965
NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe) rs886037939
NM_000814.6(GABRB3):c.553A>G (p.Thr185Ala)
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) rs1555368345
NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln) rs369581041
NM_000814.6(GABRB3):c.589G>T (p.Asp197Tyr) rs375461837
NM_000814.6(GABRB3):c.630G>C (p.Gln210His) rs1890744574
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del) rs2140730286
NM_000814.6(GABRB3):c.675C>G (p.Phe225Leu) rs201004195
NM_000814.6(GABRB3):c.679A>C (p.Thr227Pro) rs1890741727
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_000814.6(GABRB3):c.728T>C (p.Ile243Thr)
NM_000814.6(GABRB3):c.730G>A (p.Gly244Arg)
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His) rs1890229646
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys) rs886037940
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu) rs1064796514
NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln) rs1890228169
NM_000814.6(GABRB3):c.76C>T (p.Gln26Ter) rs867679278
NM_000814.6(GABRB3):c.778C>G (p.Leu260Val) rs2140696722
NM_000814.6(GABRB3):c.824G>C (p.Arg275Thr)
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_000814.6(GABRB3):c.845C>G (p.Thr282Ser)
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile) rs1595440448
NM_000814.6(GABRB3):c.883G>T (p.Glu295Ter) rs990827657
NM_000814.6(GABRB3):c.8del (p.Gly3fs) rs1891196700
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr) rs886037941
NM_000814.6(GABRB3):c.914C>T (p.Ala305Val) rs1555401425
NM_000814.6(GABRB3):c.928C>A (p.Leu310Ile) rs1889964767
NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg) rs2504153506
NM_021912.5(GABRB3):c.11G>T (p.Gly4Val) rs1356927141

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